Fetal Diseases Category (4121 diseases)


Including: Fetal, Embryo, Teratogenic
See other categories (disease lists)

# Family MCID Name MIFTS
1 HYD038 Hydrops Fetalis, Nonimmune 47
2 HYD012 Hydrops Fetalis 50
3 P EMB005 Embryonal Rhabdomyosarcoma 54
4 MCR078 Microphthalmia Microtia Fetal Akinesia 17
5 FTL028 Fetal Retinoid Syndrome 15
6 VLP002 Valproate Embryopathy 46
7 MTH070 Methimazole Antenatal Exposure 17
8 c FTL006 Fetal Alcohol Spectrum Disorder 48
9 ACT091 Acitretin Embryopathy 6
10 FTL007 Fetal Hydantoin Syndrome 31
11 PRG092 Pregnancy Loss, Recurrent 1 30
12 IST007 Isotretinoin Embryopathy-Like Syndrome 25
13 IST006 Isotretinoin Syndrome 22
14 HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 34
15 NCH001 Nuchal Bleb, Familial 27
16 EMB006 Embryonal Testis Carcinoma 25
17 CHL043 Childhood Embryonal Testis Carcinoma 9
18 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 14
19 P CNT003 Central Nervous System Embryonal Carcinoma 10
20 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 8
21 PRP094 Propylthiouracil Embryofetopathy 5
22 P FTL001 Fetal Alcohol Syndrome 59
23 PRS030 Persistent Fetal Circulation Syndrome 42
24 P PNT019 Pontocerebellar Hypoplasia 41
25 OVR050 Ovarian Embryonal Carcinoma 41
26 c PNT034 Pontocerebellar Hypoplasia, Type 2e 41
27 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
28 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
29 c PNT049 Pontocerebellar Hypoplasia, Type 2d 35
30 c PNT010 Pontocerebellar Hypoplasia Type 1 35
31 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
32 c PNT045 Pontocerebellar Hypoplasia, Type 1a 31
33 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
34 c PNT043 Pontocerebellar Hypoplasia, Type 4 29
35 c PNT044 Pontocerebellar Hypoplasia, Type 2a 28
36 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
37 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
38 c PNT032 Pontocerebellar Hypoplasia, Type 9 27
39 c RHB023 Rhabdomyosarcoma, Embryonal, 1 27
40 GRM001 Germ Cell and Embryonal Cancer 26
41 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
42 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
43 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
44 c PNT050 Pontocerebellar Hypoplasia, Type 11 22
45 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
46 c PNT048 Pontocerebellar Hypoplasia, Type 2c 21
47 CHL026 Childhood Ovarian Embryonal Carcinoma 9
48 FTL004 Fetal Erythroblastosis 35
49 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 21
50 ACT206 Acitretin/etretinate Embryopathy 18
51 AMN013 Aminopterin/methotrexate Embryofetopathy 17
52 FTL066 Fetal Akinesia Syndrome, X-Linked 15
53 c ADL007 Adult Central Nervous System Embryonal Carcinoma 7
54 P TXP001 Toxoplasmosis 65
55 c CNG021 Congenital Toxoplasmosis 57
56 CCN007 Cocoon Syndrome 41
57 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
58 P PRM252 Preimplantation Embryonic Lethality 1 16
59 FTL029 Fetal Thalidomide Syndrome 30
60 INT041 Intratubular Embryonal Carcinoma 27
61 P CTR002 Cataract 60
62 c CTR130 Cataract 9, Multiple Types 41
63 c CTR118 Cataract 14, Multiple Types 39
64 c CTR115 Cataract 16, Multiple Types 38
65 c CTR122 Cataract 5, Multiple Types 38
66 c CTR129 Cataract 31, Multiple Types 36
67 c CTR170 Cataract 30, Multiple Types 36
68 c CTR098 Cataract 1, Multiple Types 35
69 c CTR141 Cataract 21, Multiple Types 34
70 c CTR125 Cataract 7 33
71 c CTR174 Cataract 40 33
72 c CTR102 Cataract 2, Multiple Types 32
73 c CTR096 Cataract 6, Multiple Types 32
74 c CTR119 Cataract 32, Multiple Types 32
75 c CTR095 Cataract 8, Multiple Types 31
76 c CTR158 Cataract 37 31
77 c CTR103 Cataract 4, Multiple Types 31
78 c CTR145 Cataract 44 31
79 c CTR132 Cataract 3, Multiple Types 29
80 c CTR121 Cataract 25 28
81 c CTR175 Cataract 24 28
82 c CTR124 Cataract 10, Multiple Types 28
83 c CTR113 Cataract 11, Multiple Types 27
84 FTL062 Fetal Iodine Deficiency Disorder 26
85 c CTR169 Cataract 29 25
86 c CTR166 Cataract 33, Multiple Types 23
87 c CTR131 Cataract 17, Multiple Types 23
88 c CTR181 Cataract 18 22
89 c CTR180 Cataract 22, Multiple Types 22
90 c CTR162 Cataract 47 22
91 c CTR184 Cataract 39, Multiple Types 21
92 c CTR165 Cataract 19, Multiple Types 21
93 c CTR159 Cataract 35 21
94 c CTR182 Cataract 23, Multiple Types 20
95 c CTR116 Cataract 15, Multiple Types 20
96 c CTR183 Cataract 38 20
97 c CTR025 Cataract, Total Congenital 20
98 c CTR105 Cataract 12, Multiple Types 20
99 c CTR136 Cataract 41 20
100 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 20
101 c CTR163 Cataract 46, Juvenile-Onset 20
102 c CTR185 Cataract 30 20
103 c CTR111 Cataract 36 20
104 PRS010 Prostate Embryonal Rhabdomyosarcoma 19
105 c CTR178 Cataract 27 18
106 c CTR097 Cataract 34, Multiple Types 18
107 c CTR157 Cataract 28 18
108 c CTR139 Cataract 42 18
109 c CTR110 Cataract 26, Multiple Types 18
110 c CTR106 Cataract 20, Multiple Types 18
111 c CTR160 Cataract 45 18
112 MYC060 Mycophenolate Mofetil Embryopathy 18
113 c CTR144 Cataract 43 17
114 ORB002 Orbit Embryonal Rhabdomyosarcoma 16
115 FTL016 Fetal Edema 16
116 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 14
117 c CTR128 Cataract 33 14
118 CCN010 Cocaine Embryofetopathy 12
119 c CTR008 Cataract Congenital Autosomal Dominant 7
120 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
121 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 6
122 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 6
123 PDT006 Pediatric Cns Embryonal Cell Carcinoma 6
124 HYD027 Hydrops Fetalis Anemia Immune Disorder Absent Thumb 3
125 VTM006 Vitamin a Embryopathy 2
126 HRP013 Herpetic Embryopathy 2
127 c RBN009 Robinow Syndrome, Autosomal Recessive 42
128 P PRS062 Persistent Hyperplastic Primary Vitreous 41
129 c RBN018 Robinow Syndrome, Autosomal Dominant 1 39
130 c RBN017 Robinow Syndrome, Autosomal Dominant 2 37
131 c RBN020 Robinow Syndrome, Autosomal Dominant 3 27
132 c RBN010 Robinow-Like Syndrome 13
133 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 10
134 ALC001 Alcohol-Related Birth Defect 32
135 PRT001 Partial Fetal Alcohol Syndrome 22
136 FTL058 Fetal Trimethadione Syndrome 17
137 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 16
138 c RHB021 Rhabdomyosarcoma, Embryonal, 2 13
139 c PRM251 Preimplantation Embryonic Lethality 2 11
140 P MCK013 Meckel Syndrome, Type 1 62
141 c LTH008 Lethal Congenital Contracture Syndrome 2 46
142 FTL021 Fetal Macrosomia 46
143 c ATS082 Autosomal Dominant Robinow Syndrome 43
144 BLS003 Blastoma 40
145 c LTH007 Lethal Congenital Contracture Syndrome 1 40
146 P LTH003 Lethal Congenital Contracture Syndrome 28
147 c MCK033 Meckel Syndrome, Type 4 26
148 c LTH027 Lethal Congenital Contracture Syndrome 5 26
149 c MCK032 Meckel Syndrome, Type 3 24
150 c MCK030 Meckel Syndrome, Type 7 24
151 c LTH031 Lethal Congenital Contracture Syndrome 6 24
152 c LTH039 Lethal Congenital Contracture Syndrome 11 24
153 c MCK031 Meckel Syndrome, Type 2 23
154 PRX085 Preaxial Hallucal Polydactyly 23
155 c MCK034 Meckel Syndrome, Type 8 23
156 c LTH047 Lethal Congenital Contracture Syndrome 3 23
157 c MCK026 Meckel Syndrome 12 21
158 c MCK014 Meckel Syndrome, Type 5 21
159 c MCK012 Meckel Syndrome, Type 6 21
160 c LTH029 Lethal Congenital Contracture Syndrome 9 21
161 c MCK035 Meckel Syndrome, Type 10 20
162 c LTH026 Lethal Congenital Contracture Syndrome 4 20
163 c MCK036 Meckel Syndrome, Type 9 20
164 c LTH032 Lethal Congenital Contracture Syndrome 7 20
165 c LTH030 Lethal Congenital Contracture Syndrome 8 20
166 c MCK028 Meckel Syndrome 13 20
167 FTL005 Fetal Adenoma 19
168 c MCK020 Meckel Syndrome, Type 11 19
169 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 17
170 PRV001 Parovarian Cyst 16
171 FTL026 Fetal Parvovirus Syndrome 14
172 c SPR105 Sporadic Fetal Brain Disruption Sequence 14
173 FTL044 Fetal Cytomegalovirus Syndrome 13
174 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 13
175 CHL030 Childhood Botryoid Rhabdomyosarcoma 12
176 EMB014 Embryonary Disorganization Syndrome 12
177 FTL048 Fetal Lung Interstitial Tumor 12
178 THY113 Thymic Aplasia with Fetal Death 10
179 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 8
180 FTL020 Fetal Left Ventricular Aneurysm 7
181 FTL049 Fetal Carbamazepine Syndrome 5
182 LSS032 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome 5
183 MXD015 Mixed Type Rhabdomyosarcoma 5
184 SMT021 Somatomedin, Embryonic 3
185 FTL063 Fetal Nicotine Spectrum Disorder 3
186 RR2001 Ror2-Related Robinow Syndrome 3
187 FTL027 Fetal Phenothiazine Syndrome 2
188 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 2
189 KPS004 Kaposi Sarcoma 73
190 P CRN037 Craniosynostosis 68
191 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
192 P CTS001 Cutis Laxa 62
193 P ANG001 Angelman Syndrome 61
194 P EHL001 Ehlers-Danlos Syndrome 61
195 P MCP040 Mucopolysaccharidosis-Plus Syndrome 61
196 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
197 c SPN294 Spinocerebellar Ataxia 1 58
198 P DST002 Distal Arthrogryposis 57
199 P MLT007 Multiple Epiphyseal Dysplasia 57
200 ANG020 Angiosarcoma 57
201 P MCR010 Microcephaly 57
202 P BRC006 Brachydactyly 57
203 NWB001 Newborn Respiratory Distress Syndrome 56
204 P SPN301 Spinocerebellar Ataxia 2 56
205 P MGL013 Megalencephaly 54
206 P SMP003 Simpson-Golabi-Behmel Syndrome 54
207 c CWD006 Cowden Syndrome 1 54
208 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53
209 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
210 c SPN291 Spinocerebellar Ataxia 7 52
211 CHR005 Chorioamnionitis 52
212 P OMP004 Omphalocele 51
213 NNT012 Neonatal Jaundice 51
214 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 51
215 c ART115 Aortic Valve Disease 1 51
216 HNN001 Hennekam Syndrome 50
217 PLC007 Placental Abruption 50
218 P PRS049 Persistent Mullerian Duct Syndrome 50
219 P EPT020 Epithelioid Hemangioendothelioma 50
220 CLF004 Cleft Lip/palate 49
221 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49
222 P SYR001 Syringomyelia 49
223 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
224 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49
225 P LSS002 Lissencephaly 49
226 P NNT009 Neonatal Diabetes Mellitus 48
227 c MCR256 Microphthalmia, Syndromic 9 48
228 c HYP293 Hypophosphatasia, Adult 48
229 c HYP292 Hypophosphatasia, Infantile 48
230 P ENC008 Encephalocele 48
231 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
232 c SPN309 Spinocerebellar Ataxia 6 48
233 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
234 P CRN074 Coronary Artery Aneurysm 47
235 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
236 c SPN293 Spinocerebellar Ataxia 12 47
237 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
238 PLY012 Polyhydramnios 47
239 c OPT051 Opitz Gbbb Syndrome, Type I 47
240 HYP347 Hypotonia-Cystinuria Syndrome 47
241 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
242 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 47
243 c SPN296 Spinocerebellar Ataxia 17 46
244 P ART084 Arteriovenous Fistula 46
245 c USH021 Usher Syndrome, Type Iid 46
246 PLC001 Placenta Accreta 46
247 c SPN314 Spinocerebellar Ataxia 10 46
248 c ART144 Arthrogryposis, Distal, Type 1a 46
249 P RDL002 Radioulnar Synostosis 46
250 P VSC013 Visceral Heterotaxy 45
251 c USH037 Usher Syndrome, Type Iia 45
252 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 45
253 c USH035 Usher Syndrome Type 2 45
254 MCR165 Microphthalmia with Limb Anomalies 45
255 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 45
256 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 44
257 c MCP047 Mucopolysaccharidosis, Type Iva 44
258 c LKD015 Leukodystrophy, Hypomyelinating, 3 44
259 P DNR001 Duane Retraction Syndrome 44
260 c SPN100 Spinocerebellar Ataxia 27 44
261 WRS002 Warsaw Breakage Syndrome 44
262 MRG013 Mirage Syndrome 44
263 HRT030 Hartsfield Syndrome 43
264 c SPN305 Spinocerebellar Ataxia 11 43
265 c ATS275 Autosomal Recessive Primary Microcephaly 43
266 ANM001 Anemia of Prematurity 43
267 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 43
268 c LKD010 Leukodystrophy, Hypomyelinating, 2 43
269 P INF016 Infantile Epileptic Encephalopathy 43
270 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 43
271 c SPN312 Spinocerebellar Ataxia 14 43
272 CHN065 Choanal Atresia, Posterior 43
273 c LKD019 Leukodystrophy, Hypomyelinating, 6 42
274 c SPN311 Spinocerebellar Ataxia 13 42
275 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
276 P ART018 Aortic Valve Insufficiency 42
277 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
278 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42
279 PLL008 Pallister-Killian Syndrome 41
280 ART002 Arts Syndrome 41
281 c CRN278 Craniosynostosis 1 41
282 c USH039 Usher Syndrome, Type Ic 41
283 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
284 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41
285 c USH020 Usher Syndrome, Type Iic 41
286 c USH040 Usher Syndrome, Type Id 41
287 DND001 Dandy-Walker Syndrome 41
288 P JVN008 Juvenile Glaucoma 41
289 OLG003 Oligohydramnios 41
290 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41
291 c SPN265 Spinocerebellar Ataxia 36 41
292 EPS026 Epispadias 41
293 c SPN103 Spinocerebellar Ataxia 31 40
294 c MCR261 Microphthalmia, Syndromic 2 40
295 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
296 c SPN290 Spinocerebellar Ataxia 15 40
297 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 40
298 c SPN106 Spinocerebellar Ataxia 5 40
299 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
300 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 40
301 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39
302 c MCL016 Mucolipidosis Iii Gamma 39
303 MCR103 Microtia 39
304 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 39
305 c TYP003 Type I Ehlers-Danlos Syndrome 39
306 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
307 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
308 c SPN308 Spinocerebellar Ataxia 28 38
309 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38
310 P MNN007 Meningocele 38
311 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 38
312 VNM003 Van Maldergem Syndrome 1 38
313 c LKD009 Leukodystrophy, Hypomyelinating, 5 38
314 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
315 c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 38
316 P DXT004 Dextro-Looped Transposition of the Great Arteries 38
317 SML028 Semilobar Holoprosencephaly 38
318 c OPT050 Opitz Gbbb Syndrome, Type Ii 38
319 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38
320 GLS018 Glass Syndrome 38
321 P LSS024 Lissencephaly with Cerebellar Hypoplasia 37
322 c MNS014 Monosomy 22 37
323 VTR016 Vater/vacterl Association 37
324 CHR667 Chromosome 3pter-P25 Deletion Syndrome 37
325 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 37
326 P CRC039 Coarctation of Aorta 37
327 P SPL050 Split Hand-Split Foot Malformation 37
328 P PRT042 Parietal Foramina 37
329 ALB014 Alobar Holoprosencephaly 37
330 MND025 Mandibulofacial Dysostosis with Alopecia 37
331 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
332 c USH042 Usher Syndrome, Type Ig 36
333 P HRD086 Hereditary Hypophosphatemic Rickets 36
334 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 36
335 c ATS076 Autosomal Recessive Stickler Syndrome 36
336 c USH041 Usher Syndrome, Type if 36
337 c SPN304 Spinocerebellar Ataxia 8 36
338 c SPN094 Spinocerebellar Ataxia 18 36
339 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
340 c PRM032 Primary Congenital Glaucoma 36
341 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 36
342 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
343 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 36
344 LBR025 Lobar Holoprosencephaly 36
345 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 36
346 PLM013 Pulmonary Immaturity 36
347 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 36
348 P KLF001 Kleefstra Syndrome 36
349 c SPN097 Spinocerebellar Ataxia 23 36
350 DGT009 Digitotalar Dysmorphism 35
351 P GLP001 Geleophysic Dysplasia 35
352 c MCP051 Mucopolysaccharidosis, Type Ix 35
353 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 35
354 P CMM008 Communicating Hydrocephalus 35
355 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 35
356 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
357 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
358 OHD005 Ohdo Syndrome, Sbbys Variant 35
359 CHR387 Chromosome Xp21 Deletion Syndrome 35
360 CHR382 Chromosome 18q Deletion Syndrome 35
361 OGD001 Ogden Syndrome 35
362 c CRN277 Craniosynostosis 2 35
363 P MXD016 Mixed Gonadal Dysgenesis 35
364 c SPN299 Spinocerebellar Ataxia 20 35
365 c CNG379 Congenital Disorder of Glycosylation, Type It 34
366 MCR173 Microform Holoprosencephaly 34
367 TRM011 Terminal Osseous Dysplasia 34
368 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 34
369 SPN331 Spondyloocular Syndrome 34
370 CHR501 Chromosome 17q12 Deletion Syndrome 34
371 c DNR003 Duane Retraction Syndrome 1 34
372 c EHL088 Ehlers-Danlos Syndrome Type 2 34
373 c KLF004 Kleefstra Syndrome 1 34
374 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34
375 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 34
376 c GLP003 Geleophysic Dysplasia 1 34
377 NNT004 Neonatal Respiratory Failure 33
378 P OVR075 Ovarian Dysgenesis 1 33
379 BRC004 Brachydactyly-Syndactyly Syndrome 33
380 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
381 c GLC083 Glaucoma 3, Primary Infantile, B 33
382 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33
383 CHR377 Chromosome 10q26 Deletion Syndrome 33
384 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 33
385 P KNB001 Knobloch Syndrome 33
386 PLM151 Pulmonary Arteriovenous Fistulas 33
387 c MTR051 Maternal Uniparental Disomy of Chromosome 1 33
388 PLC009 Placenta Praevia 33
389 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32
390 c KNB006 Knobloch Syndrome 1 32
391 DST008 Diastematomyelia 32
392 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 32
393 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32
394 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 32
395 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 32
396 c WLL036 Weill-Marchesani Syndrome 1 32
397 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32
398 PLY110 Polymicrogyria, Bilateral Temporooccipital 32
399 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
400 ISL062 Isolated Plagiocephaly 32
401 NNT005 Neonatal Candidiasis 32
402 P OMD003 Omodysplasia 32
403 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
404 CRB147 Cerebellofaciodental Syndrome 32
405 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
406 c SPN104 Spinocerebellar Ataxia 34 32
407 c SPN101 Spinocerebellar Ataxia 29 31
408 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31
409 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
410 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
411 SPT016 Septopreoptic Holoprosencephaly 31
412 c SPN266 Spinocerebellar Ataxia 35 31
413 P ACR093 Acrofrontofacionasal Dysostosis 31
414 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
415 ALG027 Al-Gazali-Bakalinova Syndrome 31
416 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
417 OSC001 Oeis Complex 31
418 GLM012 Glomuvenous Malformations 31
419 c LSS010 Lissencephaly 4 31
420 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30
421 SPN012 Spindle Cell Hemangioma 30
422 TKN001 Takenouchi-Kosaki Syndrome 30
423 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30
424 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
425 NRN022 Neurenteric Cyst 30
426 CLF028 Cleft Soft Palate 30
427 c GLP004 Geleophysic Dysplasia 2 30
428 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
429 c SPN099 Spinocerebellar Ataxia 26 30
430 c SPN105 Spinocerebellar Ataxia 4 30
431 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
432 c PRN053 Porencephaly 1 30
433 P HYP700 Hypomyelinating Leukodystrophy 30
434 c SPN095 Spinocerebellar Ataxia 19 30
435 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 30
436 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
437 c USH031 Usher Syndrome, Type Ij 30
438 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
439 P BRC003 Brachyolmia 30
440 c WLL037 Weill-Marchesani Syndrome 2 30
441 PRP093 Pierpont Syndrome 30
442 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 30
443 THR017 Thoracoabdominal Syndrome 30
444 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
445 c SCK009 Seckel Syndrome 1 30
446 c SPN096 Spinocerebellar Ataxia 21 30
447 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
448 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
449 c SYN084 Synpolydactyly 1 29
450 c SPN283 Spinocerebellar Ataxia 37 29
451 VND005 Van Den Ende-Gupta Syndrome 29
452 ISL109 Isolated Cleft Lip 29
453 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
454 UNV002 Univentricular Heart 29
455 c CNG188 Congenital Disorder of Glycosylation, Type if 29
456 c ACQ027 Acquired Cutis Laxa 29
457 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 29
458 MCR099 Microlissencephaly 29
459 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
460 LRY022 Laryngoonychocutaneous Syndrome 29
461 WTT002 Witteveen-Kolk Syndrome 29
462 CRN264 Craniosynostosis with Fibular Aplasia 29
463 MCR183 Microcephaly-Capillary Malformation Syndrome 29
464 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 29
465 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
466 P RNG031 Ring Chromosome Y Syndrome 29
467 ISL096 Isolated Klippel-Feil Syndrome 29
468 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
469 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28
470 c USH030 Usher Syndrome, Type Ik 28
471 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
472 HYP679 Hypoglossia-Hypodactylia 28
473 CNS013 Constricting Bands, Congenital 28
474 c HTR021 Heterotaxy, Visceral, 5, Autosomal 28
475 ISL061 Isolated Brachycephaly 28
476 RHM015 Rhombencephalosynapsis 28
477 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28
478 c ERL012 Early-Onset Glaucoma 28
479 c ART104 Arthrogryposis, Distal, Type 5d 28
480 P SCL047 Sclerocornea 28
481 c SCK011 Seckel Syndrome 5 28
482 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
483 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28
484 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
485 P TRS029 Trisomy 1q 28
486 c HTR010 Heterotaxy, Visceral, 4, Autosomal 28
487 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 28
488 c SPN284 Spinocerebellar Ataxia 38 27
489 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 27
490 c SPN372 Spinocerebellar Ataxia 43 27
491 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27
492 STL007 Steel Syndrome 27
493 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 27
494 ISL011 Isolated Aniridia 27
495 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
496 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
497 HYP674 Hyperostosis Cranialis Interna 27
498 c PRT059 Parietal Foramina 1 27
499 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
500 UVL009 Uvula, Bifid 27
501 TTT001 Tatton-Brown-Rahman Syndrome 27
502 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 27
503 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
504 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
505 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
506 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 27
507 c MCR252 Microphthalmia, Syndromic 5 27
508 ATR055 Atrial Septal Aneurysm 27
509 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 26
510 c USH044 Usher Syndrome, Type Iiib 26
511 c TRS012 Trisomy 22 26
512 c HTR009 Heterotaxy, Visceral, 2, Autosomal 26
513 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
514 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
515 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26
516 c CWD007 Cowden Syndrome 3 26
517 TTR014 Tetrasomy 18p 26
518 HMF009 Hemifacial Hyperplasia 26
519 c SPN247 Spinocerebellar Ataxia Type 19/22 26
520 TTR027 Tetrasomy 15q26 26
521 c SCK010 Seckel Syndrome 4 26
522 PRT043 Parietal Foramina with Cleidocranial Dysplasia 26
523 MLL011 Mullerian Aplasia and Hyperandrogenism 26
524 ISL089 Isolated Scaphocephaly 26
525 CHR399 Chromosome 4q21 Deletion Syndrome 26
526 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
527 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
528 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
529 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
530 SCR035 Sacral Agenesis with Vertebral Anomalies 26
531 c LKD022 Leukodystrophy, Hypomyelinating, 13 26
532 c SPN098 Spinocerebellar Ataxia 25 26
533 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 26
534 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
535 WLL012 Williams-Beuren Region Duplication Syndrome 26
536 c BRC062 Brachydactyly, Type D 26
537 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26
538 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 26
539 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
540 CRN049 Craniolenticulosutural Dysplasia 26
541 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
542 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
543 c BSL030 Basal Encephalocele 26
544 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
545 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25
546 c SPN383 Spinocerebellar Ataxia 42 25
547 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 25
548 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
549 P NNT006 Neonatal Myasthenia Gravis 25
550 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 25
551 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 25
552 PRM206 Premature Aging Syndrome, Penttinen Type 25
553 ANG062 Angioosteohypertrophic Syndrome 25
554 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
555 c RBN008 Rubinstein-Taybi Syndrome 2 25
556 MCR096 Macrocephaly/autism Syndrome 25
557 c CRN281 Craniosynostosis 7 25
558 c FRN033 Frontonasal Dysplasia 2 25
559 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
560 c MCR212 Microphthalmia, Syndromic 12 25
561 LBN004 Liebenberg Syndrome 25
562 BNB002 Bainbridge-Ropers Syndrome 25
563 FNT003 Fountain Syndrome 25
564 INF021 Infant Gynecomastia 25
565 PNL023 Penile Agenesis 25
566 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
567 P ART034 Aortopulmonary Window 25
568 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
569 SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 25
570 RGH006 Right Aortic Arch 25
571 CLF049 Cleft Lip and Alveolus 25
572 CHR366 Chromosome 5p13 Duplication Syndrome 25
573 PHK008 Phakomatosis Cesioflammea 25
574 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
575 CHR379 Chromosome 15q26-Qter Deletion Syndrome 25
576 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
577 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
578 P PRD037 Periodontal Ehlers-Danlos Syndrome 25
579 c CRN217 Craniosynostosis 3 25
580 P PLM064 Pulmonary Sequestration 25
581 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 25
582 MYL044 Myelocystocele 25
583 DGT002 Digital Clubbing, Isolated Congenital 25
584 OCC011 Occipital Encephalocele 25
585 P TRC031 Trichorhinophalangeal Syndrome 25
586 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
587 c ACR103 Acrofrontofacionasal Dysostosis 1 25
588 c PRT060 Parietal Foramina 2 24
589 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
590 c SPN286 Spinocerebellar Ataxia 40 24
591 P SPN237 Spina Bifida Aperta 24
592 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 24
593 TRC007 Tricuspid Valve Prolapse 24
594 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
595 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 24
596 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
597 c WLL011 Weill-Marchesani-Like Syndrome 24
598 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
599 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
600 c ART122 Arthrogryposis, Distal, Type 8 24
601 CRN266 Craniofacial Dyssynostosis with Short Stature 24
602 CRS011 Criss-Cross Heart 24
603 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 24
604 P KNN002 Kenny-Caffey Syndrome 24
605 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 24
606 PTL010 Patella Aplasia-Hypoplasia 24
607 DNT045 Dental Anomalies and Short Stature 24
608 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 24
609 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 24
610 c FRN037 Frontal Encephalocele 24
611 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
612 c MCR228 Microphthalmia, Syndromic 13 24
613 ALZ030 Alazami Syndrome 24
614 PRT101 Poretti-Boltshauser Syndrome 24
615 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
616 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
617 MCR302 Macrostomia, Isolated 24
618 c SCK015 Seckel Syndrome 2 24
619 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
620 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 24
621 c OVR076 Ovarian Dysgenesis 2 24
622 TTR019 Tetrasomy 5p 24
623 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
624 c STS007 Sotos Syndrome 2 24
625 ASS004 Aase-Smith Syndrome I 24
626 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23
627 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 23
628 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23
629 ISL087 Isolated Oxycephaly 23
630 c LKD020 Leukodystrophy, Hypomyelinating, 10 23
631 CHR487 Chromosome 8q21.11 Deletion Syndrome 23
632 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
633 P PTR018 Paternal Uniparental Disomy of Chromosome 6 23
634 LMB069 Lamb-Shaffer Syndrome 23
635 UTR054 Uterine Hypoplasia 23
636 YNH001 Yuan-Harel-Lupski Syndrome 23
637 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
638 c CWD004 Cowden Syndrome 5 23
639 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23
640 ACR101 Acrocraniofacial Dysostosis 23
641 c STC012 Stickler Syndrome, Type Iv 23
642 MCR310 Microgastria-Limb Reduction Defects Association 23
643 DSN002 Desanto-Shinawi Syndrome 23
644 c MLG145 Malignant Epithelioid Hemangioendothelioma 23
645 c MNS008 Monosomy 21 23
646 XP2002 Xp22.13p22.2 Duplication Syndrome 23
647 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 23
648 DPR014 Diprosopus 23
649 c CWD008 Cowden Syndrome 6 23
650 MLR023 Melorheostosis, Isolated 23
651 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
652 P ACR072 Acrorenal Syndrome 23
653 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 23
654 ADD006 Adducted Thumbs Syndrome 23
655 ULN023 Ulnar Hypoplasia 23
656 BRN129 Branchial Cleft Anomalies 23
657 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 23
658 c BRC052 Brachydactyly, Type B2 23
659 HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 22
660 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 22
661 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 22
662 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 22
663 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
664 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 22
665 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 22
666 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
667 c BRC080 Brachydactyly, Type A1, B 22
668 c FNG009 Feingold Syndrome 2 22
669 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 22
670 c BRC108 Brachydactyly, Type A3 22
671 CHR483 Chromosome 3q13.31 Deletion Syndrome 22
672 BRN133 Bronchomalacia 22
673 TRG019 Trigonocephaly with Short Stature and Developmental Delay 22
674 c WLL038 Weill-Marchesani Syndrome 3 22
675 c LSS009 Lissencephaly 3 22
676 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 22
677 CHR502 Chromosome 17q12 Duplication Syndrome 22
678 MSL005 Mseleni Joint Disease 22
679 c ART131 Arthrogryposis, Distal, Type 4 22
680 c LKD023 Leukodystrophy, Hypomyelinating, 12 22
681 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 22
682 c LKD021 Leukodystrophy, Hypomyelinating, 11 22
683 c SCK029 Seckel Syndrome 7 22
684 c SCN048 Secondary Syringomyelia 22
685 c STC011 Stickler Syndrome, Type V 22
686 c MCR217 Microphthalmia, Syndromic 11 22
687 c HTR018 Heterotaxy, Visceral, 7, Autosomal 22
688 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 22
689 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 22
690 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
691 c SPN323 Spinocerebellar Ataxia 41 22
692 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 22
693 c LKD016 Leukodystrophy, Hypomyelinating, 9 22
694 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 22
695 c FRN032 Frontonasal Dysplasia 3 22
696 c SYN088 Synpolydactyly 2 22
697 c EPP012 Epiphyseal Dysplasia, Multiple, 2 22
698 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
699 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
700 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 22
701 P ACR020 Acropectorovertebral Dysplasia 22
702 c SCK038 Seckel Syndrome 10 22
703 INT276 Interatrial Communication 22
704 MNS012 Monostotic Fibrous Dysplasia 22
705 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 22
706 MSC089 Mosaic Monosomy X 22
707 c SPN259 Spinocerebellar Ataxia 32 21
708 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 21
709 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
710 c EPP015 Epiphyseal Dysplasia, Multiple, 3 21
711 P OTP001 Otopalatodigital Syndrome 21
712 P MNS011 Monosomy 9q22.3 21
713 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21
714 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 21
715 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
716 c BRC075 Brachydactyly, Type A1, C 21
717 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 21
718 c LSS035 Lissencephaly 8 21
719 CRL006 Caroli Disease, Isolated 21
720 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 21
721 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 21
722 c EHL065 Ehlers-Danlos Syndrome, Type V 21
723 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 21
724 c DNR004 Duane Retraction Syndrome 2 21
725 c CRN256 Craniosynostosis 6 21
726 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
727 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
728 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21
729 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21
730 c SPN102 Spinocerebellar Ataxia 30 21
731 P ERL043 Early-Onset Nuclear Cataract 21
732 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 21
733 CRN200 Craniosynostosis and Dental Anomalies 21
734 PLV015 Pelvis-Shoulder Dysplasia 21
735 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21
736 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
737 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21
738 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 21
739 DYS134 Dysspondyloenchondromatosis 21
740 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
741 FCL047 Facial Clefting, Oblique, 1 21
742 CRV063 Cervical Spina Bifida Aperta 21
743 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 21
744 PYR025 Pyruvate Dehydrogenase E2 Deficiency 21
745 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
746 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 21
747 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
748 HRR005 Harrod Syndrome 21
749 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 21
750 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
751 MCR353 Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome 21
752 LTH011 Lethal Arthrogryposis with Anterior Horn Cell Disease 21
753 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 21
754 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 21
755 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
756 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 21
757 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
758 DST044 Distal Trisomy 14q 21
759 NTH002 Nathalie Syndrome 21
760 c BRC053 Brachyolmia Type 2 21
761 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 21
762 c APR009 Aprosencephaly Syndrome 21
763 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 20
764 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
765 CRT069 Cortical Malformations, Occipital 20
766 STP011 Stapes Ankylosis with Broad Thumbs and Toes 20
767 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20
768 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20
769 c BRC105 Brachydactyly, Type A1, D 20
770 c CWD009 Cowden Syndrome 7 20
771 c BRC060 Brachydactyly, Type E2 20
772 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 20
773 c SCK037 Seckel Syndrome 9 20
774 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20
775 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 20
776 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
777 c ART060 Arthrogryposis, Distal, Type 1b 20
778 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 20
779 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
780 c EPP009 Epiphyseal Dysplasia, Multiple, 6 20
781 LVC002 Levocardia 20
782 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
783 6QT002 6q Terminal Deletion Syndrome 20
784 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 20
785 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 20
786 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 20
787 c SPN418 Spinocerebellar Ataxia 44 20
788 XQ1001 Xq12-Q13.3 Duplication Syndrome 20
789 VGN031 Vaginal Atresia 20
790 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
791 ISL084 Isolated Trigonocephaly 20
792 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
793 CRV062 Cervical Spina Bifida Cystica 20
794 DST059 Distal Trisomy 17q 20
795 TTR018 Tetragametic Chimerism 20
796 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
797 LMB056 Lumbosacral Spina Bifida Cystica 20
798 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 20
799 DST036 Distal Trisomy 15q 20
800 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 20
801 c SPN107 Spinocerebellar Ataxia 9 20
802 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
803 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
804 c SCK033 Seckel Syndrome 8 20
805 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 20
806 RFM002 Roifman-Chitayat Syndrome 20
807 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 20
808 c CNG514 Congenital Radioulnar Synostosis 20
809 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 20
810 c OVR107 Ovarian Dysgenesis 4 20
811 MYP038 Myopathy, Congenital, Compton-North 20
812 GRM003 German Syndrome 20
813 THY105 Thyrocerebroretinal Syndrome 20
814 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
815 VCT008 Vacterl with Hydrocephalus 20
816 CHR612 Chromosome 15q14 Deletion Syndrome 20
817 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 20
818 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 19
819 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 19
820 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 19
821 TRN017 Transient Neonatal Neutropenia 19
822 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
823 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 19
824 CHR393 Chromosome 19p13.13 Deletion Syndrome 19
825 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 19
826 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 19
827 OCL057 Oculotrichodysplasia 19
828 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 19
829 c HTR023 Heterotaxy, Visceral, 6, Autosomal 19
830 c USH043 Usher Syndrome, Type Ih 19
831 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
832 c PRN047 Porencephaly 2 19
833 CRN197 Coronary Arterial Fistulas 19
834 CHR362 Chromosome 17q21.31 Duplication Syndrome 19
835 OCL070 Oculopalatocerebral Syndrome 19
836 c CTS031 Cutis Laxa, Autosomal Dominant 2 19
837 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 19
838 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 19
839 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
840 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
841 MCR307 Microspherophakia-Metaphyseal Dysplasia 19
842 c TTL009 Total Spina Bifida Aperta 19
843 THR085 Thoracolumbosacral Spina Bifida Aperta 19
844 LMB057 Lumbosacral Spina Bifida Aperta 19
845 CRV064 Cervicothoracic Spina Bifida Aperta 19
846 UPP008 Upper Thoracic Spina Bifida Aperta 19
847 TTL008 Total Spina Bifida Cystica 19
848 THR084 Thoracolumbosacral Spina Bifida Cystica 19
849 CRV061 Cervicothoracic Spina Bifida Cystica 19
850 UPP007 Upper Thoracic Spina Bifida Cystica 19
851 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 19
852 c MCR312 Microphthalmia, Syndromic 10 19
853 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 19
854 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19
855 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 19
856 FCL064 Facial Dysmorphism with Multiple Malformations 19
857 CLF047 Cleft-Limb-Heart Malformation Syndrome 19
858 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 19
859 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 19
860 OPH014 Ophthalmomandibulomelic Dysplasia 19
861 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 19
862 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 19
863 SPR065 Supernumerary Nostril 19
864 MSM018 Mesomelic Limb Shortening and Bowing 19
865 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
866 EPP011 Epiphyseal Chondrodysplasia, Miura Type 19
867 TRC114 Trichodental Dysplasia 19
868 3P2001 3p25.3 Microdeletion Syndrome 19
869 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
870 CMP039 Camptodactyly 1 19
871 11Q001 11q22.2q22.3 Microdeletion Syndrome 18
872 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
873 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
874 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 18
875 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 18
876 CRN224 Craniofaciofrontodigital Syndrome 18
877 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 18
878 CNG347 Congenital Tricuspid Stenosis 18
879 c MTR063 Maternal Uniparental Disomy of Chromosome 2 18
880 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 18
881 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 18
882 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 18
883 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
884 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 18
885 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 18
886 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 18
887 6Q1001 6q16 Deletion Syndrome 18
888 c CWD005 Cowden Syndrome 4 18
889 c CWD003 Cowden Syndrome 2 18
890 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 18
891 8PN001 8p Inverted Duplication/deletion Syndrome 18
892 RNN006 Reunion Island Larsen Syndrome 18
893 RPD005 Rapidly Involuting Congenital Hemangioma 18
894 7P2001 7p22.1 Microduplication Syndrome 18
895 c HYD042 Hydrocephalus, Autosomal Dominant 18
896 c HTR020 Heterotaxy, Visceral, 8, Autosomal 18
897 c GLC054 Glaucoma 3, Primary Congenital, D 18
898 8P1001 8p11.2 Deletion Syndrome 18
899 SBR012 Subaortic Stenosis, Membranous 18
900 FRY007 Fryns Macrocephaly 18
901 DST045 Distal Trisomy 6p 18
902 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 18
903 MSC081 Mosaic Trisomy 15 18
904 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 18
905 CHR567 Chromosome 5q12 Deletion Syndrome 18
906 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 18
907 c ACQ050 Acquired Schizencephaly 18
908 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 18
909 c FCL056 Facial Paresis, Hereditary Congenital, 3 17
910 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 17
911 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
912 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 17
913 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
914 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
915 BRC096 Brachydactyly-Distal Symphalangism Syndrome 17
916 c TRN062 Transient Neonatal Myasthenia Gravis 17
917 14Q001 14q12 Microdeletion Syndrome 17
918 DBL010 Double-Orifice Mitral Valve 17
919 c CRN216 Craniosynostosis 5 17
920 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 17
921 XLN198 X-Linked Diffuse Leiomyomatosis-Alport Syndrome 17
922 16P003 16p13.11 Microdeletion Syndrome 17
923 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 17
924 PLY088 Polyvalvular Heart Disease Syndrome 17
925 CNG489 Congenital Herpes Simplex Virus Infection 17
926 MMM002 Mammary-Digital-Nail Syndrome 17
927 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
928 DST055 Distal 22q11.2 Microduplication Syndrome 17
929 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 17
930 MNS013 Monosomy 13q34 17
931 ECT085 Ectopia Cordis 17
932 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
933 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 17
934 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 17
935 DST061 Distal Xq28 Microduplication Syndrome 17
936 TYS007 Tyshchenko Syndrome 17
937 DST037 Distal Monosomy 9p 17
938 c SPN336 Spinocerebellar Ataxia Type 16 17
939 FBL014 Fibular Hemimelia 17
940 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
941 DYS135 Dysphagia Lusoria 17
942 c STS009 Sotos Syndrome 3 17
943 THM021 Thumb Deformity and Alopecia 17
944 c TRN071 Transposition of the Great Arteries, Dextro-Looped 3 17
945 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 17
946 CLF034 Cleft Hard Palate 17
947 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 17
948 DRM038 Dermotrichic Syndrome 17
949 ILL003 Illum Syndrome 17
950 c SCK032 Seckel Syndrome 6 17
951 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 17
952 TRC110 Tracheobronchial Stenosis, Congenital 16
953 c ART054 Arthrogryposis, Distal, Type 2e 16
954 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
955 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
956 20Q001 20q13.33 Microdeletion Syndrome 16
957 c SPN420 Spinocerebellar Ataxia 46 16
958 ESS005 Essential Iris Atrophy 16
959 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
960 ESP040 Esophageal Duplication Cyst 16
961 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 16
962 ISL030 Isolated Cerebellar Hypoplasia/agenesis 16
963 DST035 Distal Trisomy 18q 16
964 c PTR011 Paternal Uniparental Disomy of Chromosome 1 16
965 P HRD043 Hereditary Congenital Facial Paresis 16
966 c EPP026 Epiphyseal Dysplasia, Multiple, 7 16
967 RDL031 Radial Aplasia, X-Linked 16
968 1P2001 1p21.3 Microdeletion Syndrome 16
969 c GLC089 Glaucoma 3, Primary Congenital, E 16
970 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 16
971 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 16
972 CHN047 Chondroectodermal Dysplasia with Night Blindness 16
973 c OVR115 Ovarian Dysgenesis 5 16
974 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
975 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 16
976 RDL022 Radial Hemimelia 16
977 AML053 Amelia, Autosomal Recessive 16
978 NND003 Non-Distal Trisomy 10q 16
979 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 16
980 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 16
981 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 16
982 CNG330 Congenital Megacalycosis 16
983 KMM002 Kommerell Diverticulum 16
984 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 16
985 DDL001 Didelphys Uterus 16
986 ART091 Aorto-Ventricular Tunnel 16
987 DST082 Distal Trisomy 10q 16
988 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
989 6P2001 6p22 Microdeletion Syndrome 16
990 HYP727 Hypoglossia with Situs Inversus 16
991 c PRT113 Parietal Foramina 3 15
992 c OVR102 Ovarian Dysgenesis 3 15
993 UNL006 Unilateral Focal Polymicrogyria 15
994 P ZYG003 Zygodactyly 1 15
995 NSL017 Nasolacrimal Duct Cyst 15
996 2Q3005 2q31.1 Microdeletion Syndrome 15
997 CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 15
998 CNG491 Congenital Portosystemic Shunt 15
999 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 15
1000 PLM116 Pulmonary Artery Hypoplasia 15
1001 10Q002 10q22.3q23.3 Microduplication Syndrome 15
1002 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 15
1003 P MTR062 Maternal Uniparental Disomy of Chromosome 4 15
1004 c MTR067 Maternal Uniparental Disomy of Chromosome 16 15
1005 CNS012 Cono-Spondylar Dysplasia 15
1006 CNG243 Congenital Subglottic Stenosis 15
1007 FMR013 Femoral Agenesis/hypoplasia 15
1008 c FCL050 Facial Paresis, Hereditary Congenital, 2 15
1009 CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 15
1010 c MTR057 Maternal Uniparental Disomy of Chromosome X 15
1011 P LRY049 Laryngotracheoesophageal Cleft Type 4 15
1012 WHB001 Wahab Syndrome 15
1013 DST079 Distal Trisomy 5q 15
1014 PRS111 Persistent Fifth Aortic Arch 15
1015 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 15
1016 ATY022 Atypical Coarctation of Aorta 15
1017 DST038 Distal Monosomy 7q36 15
1018 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
1019 CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 15
1020 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 15
1021 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 15
1022 CLF033 Cleft Mitral Valve 15
1023 49X004 49,xyyyy Syndrome 15
1024 TRN046 Transverse Vaginal Septum 15
1025 CYS047 Cystic Fibrosis, Modifier of, 1 15
1026 c PSD047 Pseudo-Turner Syndrome 15
1027 c SYN040 Synpolydactyly 3 15
1028 HYP497 Hyperphalangy 15
1029 XSM001 X Small Rings 15
1030 HLL014 Hallux Varus and Preaxial Polysyndactyly 15
1031 EXT062 Extracranial Carotid Artery Aneurysm 15
1032 20Q003 20q11.2 Microdeletion Syndrome 15
1033 P BLT016 Bilateral Polymicrogyria 15
1034 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 15
1035 NND005 Non-Distal Trisomy 13q 15
1036 CMP077 Composite Hemangioendothelioma 15
1037 KLL013 Kallmann Syndrome-Heart Disease Syndrome 15
1038 c MTR061 Maternal Uniparental Disomy of Chromosome 6 15
1039 c OTP002 Otopalatodigital Spectrum Disorders 15
1040 RTF001 Retiform Hemangioendothelioma 15
1041 c SPN419 Spinocerebellar Ataxia 45 15
1042 ACC011 Accessory Mitral Valve Tissue 15
1043 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
1044 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 14
1045 DLT013 Deletion 5q35 14
1046 LRS009 Larsen-Like Syndrome, Lethal Type 14
1047 ACR109 Acropectororenal Dysplasia 14
1048 MCR186 Microtriplication 11q24.1 14
1049 CMP084 Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome 14
1050 CRN204 Craniofacial Conodysplasia 14
1051 CRV066 Cervical Aortic Arch 14
1052 SBM006 Submucosal Cleft Palate 14
1053 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 14
1054 ATS182 Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly 14
1055 c OMP009 Omphalocele, Autosomal 14
1056 UNL005 Unilateral Polymicrogyria 14
1057 CNG284 Congenital Pseudoarthrosis of the Tibia 14
1058 LGB002 Leg, Absence Deformity of, with Congenital Cataract 14
1059 CRN192 Craniorhiny 14
1060 MLC004 Mulchandani-Bhoj-Conlin Syndrome 14
1061 c GLC052 Glaucoma 3, Primary Congenital, C 14
1062 TRP023 Triphalangeal Thumbs and Dislocation of Patella 14
1063 DST071 Distal Monosomy 19p13.3 14
1064 P CNG326 Congenital Primary Megaureter 14
1065 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 14
1066 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 14
1067 CMP079 Complete Septate Uterus 14
1068 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1069 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 14
1070 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
1071 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
1072 XLN133 X-Linked Intellectual Disability, Shashi Type 14
1073 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 14
1074 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
1075 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 14
1076 MDL016 Midline Cervical Cleft 14
1077 ANR045 Aneurysm of Interventricular Septum 14
1078 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 14
1079 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1080 c BRC069 Brachydactyly of Toes 14
1081 P EPS043 Epstein-Barr Virus Chronic Infection by 14
1082 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 14
1083 APR008 Aprosencephaly and Cerebellar Dysgenesis 14
1084 PLY091 Polydactyly of a Triphalangeal Thumb, Unilateral 14
1085 PLY092 Polydactyly of a Triphalangeal Thumb, Bilateral 14
1086 FRS011 First Branchial Cleft Anomaly 14
1087 DRL001 Dural Sinus Malformation 14
1088 c TRS033 Trisomy 18-Like Syndrome 14
1089 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 14
1090 c STC007 Stickler Syndrome, Type 3 14
1091 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 14
1092 LNG081 Longitudinal Vaginal Septum 14
1093 MSC086 Mesocardia 14
1094 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 14
1095 NSL020 Nasal Glial Heterotopia 14
1096 CLF040 Cleft Lip-Retinopathy Syndrome 14
1097 PTN009 Patent Urachus 14
1098 DST052 Distal 7q11.23 Microduplication Syndrome 14
1099 TRN045 True Unicornuate Uterus 13
1100 ANN015 Anonychia with Flexural Pigmentation 13
1101 RCT033 Rectal Duplication 13
1102 c GLP007 Geleophysic Dysplasia 3 13
1103 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 13
1104 16P005 16p11.2p12.2 Microduplication Syndrome 13
1105 c SPN121 Spondylocostal Dysostosis 1 13
1106 TBL017 Tibial Hemimelia, Bilateral 13
1107 XLN145 X-Linked Intellectual Disability, Pai Type 13
1108 ANR041 Aniridia-Intellectual Disability Syndrome 13
1109 ATR053 Atresia of Urethra 13
1110 LWR015 Lower Limb Deficiency-Hypospadias Syndrome 13
1111 P XKP001 Xk Aprosencephaly 13
1112 CNG235 Congenital Microgastria 13
1113 ACH028 Acheiria 13
1114 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 13
1115 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 13
1116 c ACQ029 Acquired Porencephaly 13
1117 5Q3001 5q35 Microduplication Syndrome 13
1118 c CTR176 Cataract, Age-Related Nuclear 13
1119 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 13
1120 RDL018 Radial Hemimelia, Unilateral 13
1121 RDL017 Radial Hemimelia, Bilateral 13
1122 ANR037 Aneurysm or Dilatation of Ascending Aorta 13
1123 c MTR060 Maternal Uniparental Disomy of Chromosome 9 13
1124 RGH010 Right Ventricular Hypoplasia, Isolated 13
1125 CNG252 Congenital Non-Communicating Hydrocephalus 13
1126 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
1127 HND012 Handigodu Joint Disease 13
1128 CHR498 Chromosome 16p11.2 Duplication Syndrome 13
1129 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 13
1130 ERL036 Early-Onset Posterior Subcapsular Cataract 13
1131 c HTR012 Heterotaxy, Visceral, 3, Autosomal 13
1132 XLN209 X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome 13
1133 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
1134 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
1135 c PST093 Posterior Hypospadias 13
1136 NND004 Non-Distal Monosomy 10q 13
1137 CNG335 Congenital Ectropion Uveae 13
1138 CNT080 Central Polydactyly of Fingers 13
1139 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 13
1140 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 13
1141 XLN142 X-Linked Intellectual Disability, Stevenson Type 13
1142 CRN194 Cranial Meningocele 13
1143 c KLF005 Kleefstra Syndrome 2 12
1144 NSL021 Nasal Encephalocele 12
1145 c CNG253 Congenital Communicating Hydrocephalus 12
1146 46X015 46,xy Ovotesticular Disorder of Sex Development 12
1147 PRT087 Parietal Encephalocele 12
1148 MTR050 Maternal Hyperthermia Induced Birth Defects 12
1149 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
1150 c PTR019 Paternal Uniparental Disomy of Chromosome 5 12
1151 VRR008 Verrucous Hemangioma 12
1152 c ACR115 Acrorenal Syndrome, Autosomal Recessive 12
1153 c SCL053 Sclerocornea, Autosomal Dominant 12
1154 5Q3002 5q31.3 Microdeletion Syndrome 12
1155 MND008 Mandibular Arteriovenous Malformation 12
1156 HGH026 High Anorectal Malformation 12
1157 ART097 Aorto-Left Ventricular Tunnel 12
1158 SHN001 Shone Complex 12
1159 13Q001 13q12.3 Microdeletion Syndrome 12
1160 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 12
1161 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 12
1162 PRM238 Primary Intralymphatic Angioendothelioma 12
1163 c KLF002 Kleefstra Syndrome Due to a Point Mutation 12
1164 ISL069 Isolated Micropenis 12
1165 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
1166 CNG506 Congenital Amyoplasia 12
1167 c PTR015 Paternal Uniparental Disomy of Chromosome X 12
1168 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
1169 P ANT062 Anterior Urethral Valve 12
1170 CNT077 Central Bilateral Macrogyria 12
1171 9Q3002 9q33.3q34.11 Microdeletion Syndrome 12
1172 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 12
1173 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 12
1174 c USH011 Usher Syndrome, Type 2b 12
1175 c SYN050 Syndactyly Type 6 12
1176 IMP018 Imperforate Oropharynx-Costo Vertebral Anomalies Syndrome 11
1177 c CNG346 Congenital Aortic Valve Insufficiency 11
1178 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 11
1179 c MGL035 Megalencephaly, Autosomal Dominant 11
1180 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 11
1181 ART098 Aorto-Right Ventricular Tunnel 11
1182 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 11
1183 c HYP545 Hypospadias 3, Autosomal 11
1184 URC013 Urachal Diverticulum 11
1185 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 11
1186 PHK006 Phakomatosis Pigmentokeratotica 11
1187 MSC078 Mosaic Trisomy 17 11
1188 ART095 Aortic Valve Atresia 11
1189 ABS016 Absence of the Pulmonary Artery 11
1190 PRS112 Persistent Eustachian Valve 11
1191 CNG357 Congenital Symblepharon 11
1192 ULN014 Ulnar Hemimelia 11
1193 c PST083 Postaxial Polydactyly Type a, Bilateral 11
1194 FRT004 Fourth Branchial Cleft Anomaly 11
1195 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 11
1196 IDP062 Idiopathic Syringomyelia 11
1197 URC012 Urachal Sinus 11
1198 MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 11
1199 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 11
1200 c ATS065 Autosomal Dominant Coarctation of Aorta 11
1201 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 11
1202 CNG244 Congenital Laryngeal Cyst 11
1203 ART130 Arthrogryposis with Hyperkeratosis 11
1204 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 11
1205 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 11
1206 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 11
1207 CNG519 Congenital Gerbode Defect 10
1208 ISL118 Isolated Tracheoesophageal Fistula 10
1209 HMR042 Humero-Ulnar Synostosis 10
1210 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 10
1211 c ISC013 Isochromosomy Yq 10
1212 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
1213 c KRN003 Kernicterus Due to Isoimmunization 10
1214 c SPN122 Spondylocostal Dysostosis 2 10
1215 c CNG257 Congenital Pulmonary Sequestration 10
1216 GLS016 Glossopalatine Ankylosis 10
1217 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 10
1218 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 10
1219 CNG318 Congenital Genu Recurvatum 10
1220 c ACR046 Acropectorovertebral Dysplasia F Form 10
1221 c CNG455 Congenital Aortopulmonary Window 10
1222 DST089 Distal Trisomy 3p 10
1223 LWR014 Lower Limb Hypertrophy 10
1224 c PRD024 Prader-Willi Syndrome Due to Translocation 10
1225 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 10
1226 c SPN124 Spondylocostal Dysostosis 4 10
1227 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
1228 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1229 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1230 c ZYG007 Zygodactyly Type 3 10
1231 LWN002 Low Anorectal Malformation 10
1232 RTR022 Retrocerebellar Cyst 10
1233 APD003 Apodia 10
1234 CNG277 Congenital Pseudoarthrosis of the Fibula 10
1235 MSC090 Mosaic Trisomy 3 10
1236 c PRM168 Primary Syringomyelia 10
1237 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 9
1238 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1239 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 9
1240 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 9
1241 JXT004 Juxtaposition of the Atrial Appendages 9
1242 CRN261 Craniosynostosis-Cataract Syndrome 9
1243 LBR027 Laubry-Pezzi Syndrome 9
1244 c CNG343 Congenital Coronary Artery Aneurysm 9
1245 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1246 ISC011 Ischio-Vertebral Syndrome 9
1247 AML037 Amelia of Upper Limb 9
1248 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 9
1249 CNG282 Congenital Knee Dislocation 9
1250 c SPN123 Spondylocostal Dysostosis 3 9
1251 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
1252 c ZYG006 Zygodactyly Type 2 9
1253 PLR014 Pleuro-Pericardial Cyst 9
1254 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 9
1255 ECT107 Ectasia of the Left Atrial Appendage 9
1256 DNC006 Diencephalic-Mesencephalic Junction Dysplasia 9
1257 CRV060 Cervical Dermoid Cyst 9
1258 PSD091 Pseudounicornuate Uterus 9
1259 MSC080 Mosaic Trisomy 12 9
1260 MSC088 Mosaic Trisomy 5 9
1261 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 8
1262 CRN208 Coronary Sinus Atresia 8
1263 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 8
1264 INT254 Intermediate Anorectal Malformation 8
1265 PRN048 Prenatal Benign Hypophosphatasia 8
1266 CNG289 Congenital Absence/hypoplasia of Thumb 8
1267 CNG287 Congenital Absence of Both Forearm and Hand 8
1268 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 8
1269 CNG283 Congenital Pseudoarthrosis of the Femur 8
1270 CNG278 Congenital Pseudoarthrosis of the Radius 8
1271 CNG279 Congenital Pseudoarthrosis of the Ulna 8
1272 TBF001 Tibio-Fibular Synostosis 8
1273 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 8
1274 MCR184 Macrodactyly of Fingers 8
1275 CRN207 Coronary Sinus Stenosis 8
1276 PRC041 Pericardial and Diaphragmatic Defect 8
1277 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 8
1278 MGC005 Megacystis-Megaureter Syndrome 8
1279 ACC010 Accessory Tricuspid Valve Tissue 8
1280 PRC042 Parachute Tricuspid Valve 8
1281 CNG290 Congenital Absence of Both Lower Leg and Foot 8
1282 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 8
1283 c CNG476 Congenital Systemic Arteriovenous Fistula 8
1284 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1285 PHK009 Phakomatosis Cesiomarmorata 8
1286 c PST077 Posterior Meningocele 8
1287 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 8
1288 c ZYG005 Zygodactyly Type 4 8
1289 BPR001 Bipartite Talus 8
1290 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 8
1291 c GLC032 Glaucoma, Hereditary 8
1292 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 8
1293 P JVN036 Juvenile Sialidosis Type 2 8
1294 c CNG348 Congenital Sialidosis Type 2 8
1295 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
1296 c LRY051 Laryngotracheoesophageal Cleft Type 1 7
1297 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
1298 CMM018 Common Mesentery 7
1299 ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 7
1300 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 7
1301 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 7
1302 HMR031 Humeral Agenesis/hypoplasia 7
1303 DST085 Distal Trisomy 2q 7
1304 DST080 Distal Trisomy 4q 7
1305 DST057 Distal Trisomy 19q 7
1306 DST076 Distal Trisomy 13q 7
1307 3Q2006 3q27.3 Microdeletion Syndrome 7
1308 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 7
1309 MXL013 Maxillary Arteriovenous Malformation 7
1310 TNN014 Tunnel Subaortic Stenosis 7
1311 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 7
1312 HYP500 Hyperphalangy, Unilateral 7
1313 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1314 DST090 Distal Trisomy 2p 7
1315 3Q2004 3q26 Microduplication Syndrome 7
1316 ATS109 Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita 7
1317 CRD171 Cordiform Uterus 7
1318 c LRY048 Laryngotracheoesophageal Cleft Type 0 7
1319 ISL108 Isolated Splenogonadal Fusion 7
1320 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
1321 PHK010 Phakomatosis Spilorosea 7
1322 4P1001 4p16.3 Microduplication Syndrome 7
1323 MSC087 Mosaic Trisomy 4 7
1324 DST078 Distal Trisomy 6q 7
1325 c ACR048 Acrorenal Syndrome Recessive 7
1326 DST081 Distal Trisomy 11q 7
1327 c HYD017 Hydrocephalus Autosomal Recessive 7
1328 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 7
1329 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 7
1330 TRG018 Trigonocephaly-Broad Thumbs Syndrome 7
1331 BLR023 Biliary Atresia with Splenic Malformation Syndrome 7
1332 INT186 Intralobar Congenital Pulmonary Sequestration 7
1333 EXT047 Extralobar Congenital Pulmonary Sequestration 7
1334 CNG313 Congenital Absence/hypoplasia of Thumb, Unilateral 7
1335 CNG312 Congenital Absence/hypoplasia of Thumb, Bilateral 7
1336 AML036 Amelia of Lower Limb 7
1337 PLY095 Polysyndactyly, Unilateral 7
1338 PLY094 Polysyndactyly, Bilateral 7
1339 CNT082 Central Polydactyly of Fingers, Unilateral 7
1340 CNT083 Central Polydactyly of Fingers, Bilateral 7
1341 HYP501 Hyperphalangy, Bilateral 7
1342 RDL019 Radio-Ulnar Synostosis, Unilateral 7
1343 RDL020 Radio-Ulnar Synostosis, Bilateral 7
1344 DST083 Distal Trisomy 9q 7
1345 DST073 Distal Monosomy 7p 7
1346 DST066 Distal Monosomy 20q 7
1347 DST069 Distal Monosomy 12q 7
1348 DST058 Distal Monosomy 12p 7
1349 MCR185 Macrodactyly of Toes 7
1350 UPP009 Upper Limb Hypertrophy 7
1351 PRT111 Partial Septate Uterus 7
1352 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 6
1353 PLM147 Pulmonary Valve Agenesis-Ventricular Septal Defect-Persistent Ductus Arteriosus Syndrome 6
1354 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 6
1355 ECT057 Ectasia of the Right Atrial Appendage 6
1356 ISL034 Isolated Megalencephaly 6
1357 ACH030 Acheiria, Unilateral 6
1358 ACH029 Acheiria, Bilateral 6
1359 1P3003 1p35.2 Microdeletion Syndrome 6
1360 THR083 Third Branchial Cleft Anomaly 6
1361 20P002 20p13 Microdeletion Syndrome 6
1362 c CNG327 Congenital Epstein-Barr Virus Infection 6
1363 c ANG058 Angelman Syndrome Due to a Point Mutation 6
1364 CNG334 Congenital Esophageal Diverticulum 6
1365 DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6
1366 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1367 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 6
1368 MDN007 Median Cleft Lip/mandibule 6
1369 14Q003 14q11.2 Microduplication Syndrome 6
1370 c MTR064 Maternal Uniparental Disomy of Chromosome 22 6
1371 3Q2005 3q26q27 Microdeletion Syndrome 6
1372 7Q3001 7q31 Microdeletion Syndrome 6
1373 DST054 Distal 17p13.3 Microdeletion Syndrome 6
1374 21Q001 21q22.11q22.12 Microdeletion Syndrome 6
1375 RTN189 Retinal Capillary Malformation 6
1376 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
1377 ISL029 Isolated Anorectal Malformation 6
1378 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 6
1379 P HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 6
1380 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 6
1381 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
1382 CLS029 Celosomia 6
1383 BLK004 Blake Pouch Cyst 6
1384 c ISL045 Isolated Focal Cortical Dysplasia Type I 6
1385 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 6
1386 P ISL038 Isolated Focal Cortical Dysplasia Type Ib 6
1387 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 6
1388 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 6
1389 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 6
1390 PTR027 Peters Anomaly-Cataract Syndrome 6
1391 RGR003 Regressive Spondylometaphyseal Dysplasia 6
1392 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
1393 SX2003 Six2-Related Frontonasal Dysplasia 6
1394 PTL008 Patella Aplasia/hypoplasia, Bilateral 6
1395 ULN012 Ulnar Hemimelia, Bilateral 6
1396 ULN011 Ulnar Hemimelia, Unilateral 6
1397 TBL018 Tibial Hemimelia, Unilateral 6
1398 FBL013 Fibular Hemimelia, Unilateral 6
1399 FBL012 Fibular Hemimelia, Bilateral 6
1400 CNG311 Congenital Absence of Both Lower Leg and Foot, Unilateral 6
1401 CNG310 Congenital Absence of Both Lower Leg and Foot, Bilateral 6
1402 CNG309 Congenital Absence of Both Forearm and Hand, Unilateral 6
1403 CNG308 Congenital Absence of Both Forearm and Hand, Bilateral 6
1404 APD005 Apodia, Unilateral 6
1405 APD004 Apodia, Bilateral 6
1406 HMR030 Humeral Agenesis/hypoplasia, Unilateral 6
1407 HMR029 Humeral Agenesis/hypoplasia, Bilateral 6
1408 CNG276 Congenital Absence of Upper Arm and Forearm with Hand Present, Unilateral 6
1409 CNG275 Congenital Absence of Upper Arm and Forearm with Hand Present, Bilateral 6
1410 CNG307 Congenital Absence of Thigh and Lower Leg with Foot Present, Unilateral 6
1411 CNG306 Congenital Absence of Thigh and Lower Leg with Foot Present, Bilateral 6
1412 FMR015 Femoral Agenesis/hypoplasia, Unilateral 6
1413 FMR014 Femoral Agenesis/hypoplasia, Bilateral 6
1414 PLY093 Polydactyly of an Index Finger, Unilateral 6
1415 PLY096 Polydactyly of an Index Finger, Bilateral 6
1416 PLY107 Polydactyly of a Biphalangeal Thumb, Unilateral 6
1417 PLY108 Polydactyly of a Biphalangeal Thumb, Bilateral 6
1418 P PST080 Postaxial Polydactyly Type a, Unilateral 6
1419 c PST082 Postaxial Polydactyly Type B, Unilateral 6
1420 c PST081 Postaxial Polydactyly Type B, Bilateral 6
1421 HMR032 Humero-Radial Synostosis, Unilateral 6
1422 HMR033 Humero-Radial Synostosis, Bilateral 6
1423 HMR034 Humero-Radio-Ulnar Synostosis, Unilateral 6
1424 HMR035 Humero-Radio-Ulnar Synostosis, Bilateral 6
1425 HMR036 Humero-Ulnar Synostosis, Unilateral 6
1426 HMR037 Humero-Ulnar Synostosis, Bilateral 6
1427 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
1428 11P002 11p15.4 Microduplication Syndrome 6
1429 LWR011 Lower Lip Fistula 6
1430 EXT043 External Auditory Canal Aplasia/hypoplasia 6
1431 CHN052 Choanal Atresia, Bilateral 6
1432 LRY034 Laryngotracheal Angioma 6
1433 DST088 Distal Trisomy 1p36 6
1434 2Q2002 2q23.1 Microduplication Syndrome 6
1435 DST087 Distal Trisomy 7p 6
1436 DST084 Distal Trisomy 8q 6
1437 DST075 Distal Trisomy 16q 6
1438 DST074 Distal Trisomy 20q 6
1439 DST077 Distal Trisomy 22q 6
1440 DST070 Distal Monosomy 4q 6
1441 9P1001 9p13 Microdeletion Syndrome 6
1442 9Q3001 9q31.1q31.3 Microdeletion Syndrome 6
1443 16Q002 16q24.1 Microdeletion Syndrome 6
1444 14Q005 14q24.1q24.3 Microdeletion Syndrome 6
1445 12Q001 12q15q21.1 Microdeletion Syndrome 6
1446 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 6
1447 CNG280 Congenital Shoulder Dislocation 6
1448 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
1449 P CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 6
1450 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 6
1451 P RBN007 Rubinstein Taybi Like Syndrome 6
1452 ISL079 Isolated Encephalocele 6
1453 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1454 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 5
1455 ART099 Aortic Valve Dysplasia 5
1456 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 5
1457 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1458 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1459 16P011 16p12.1p12.3 Triplication Syndrome 5
1460 LWM001 Low Implantation of Placenta 5
1461 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 5
1462 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 5
1463 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 5
1464 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
1465 XYL001 Xylt1-Cdg 5
1466 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
1467 MSC079 Mosaic Trisomy 1 5
1468 2Q3006 2q31.1 Microduplication Syndrome 5
1469 NND009 Non-Distal Trisomy 9q 5
1470 c PTR020 Paternal Uniparental Disomy of Chromosome 20 5
1471 NND008 Non-Distal Monosomy 7p 5
1472 NND006 Non-Distal Monosomy 20q 5
1473 DST067 Distal Monosomy 14q 5
1474 NND007 Non-Distal Monosomy 12q 5
1475 ATY020 Atypical Norrie Disease Due to Monosomy Xp11.3 5
1476 MCR188 Macrodactyly of Fingers, Unilateral 5
1477 MCR190 Macrodactyly of Toes, Unilateral 5
1478 c CRN093 Craniosynostosis Autosomal Dominant 5
1479 UNL009 Unilateral Congenital Megacalycosis 5
1480 CNG331 Congenital Bilateral Megacalycosis 5
1481 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 5
1482 CNG354 Congenital Complete Agenesis of Pericardium 5
1483 CNG353 Congenital Partial Agenesis of Pericardium 5
1484 STN015 Stenosis or Atresia of the Coronary Ostium 5
1485 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 5
1486 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
1487 TRC084 Tricuspid Valve Agenesis 5
1488 PRM160 Premature Closure of the Arterial Duct 5
1489 CNG272 Congenital Achiasma 5
1490 ISL028 Isolated Cerebellar Vermis Hypoplasia 5
1491 P ISL048 Isolated Cerebellar Vermis Agenesis 5
1492 c ISL052 Isolated Total Cerebellar Vermis Agenesis 5
1493 ISL051 Isolated Partial Cerebellar Vermis Agenesis 5
1494 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 5
1495 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 5
1496 SBC038 Sub-Cortical Nodular Heterotopia 5
1497 UNL012 Unilateral Hemispheric Polymicrogyria 5
1498 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 5
1499 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 5
1500 P LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 5
1501 ISL056 Isolated Lissencephaly Type 1 Without Known Genetic Defects 5
1502 MCR287 Microcephaly-Digital Anomalies-Intellectual Disability Syndrome 5
1503 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 5
1504 CMP057 Complete Cryptophthalmia 5
1505 PRT091 Partial Cryptophthalmia 5
1506 ERL027 Early-Onset Non-Syndromic Cataract 5
1507 ERL042 Early-Onset Partial Cataract 5
1508 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
1509 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
1510 DYS128 Dysplasia of Head of Femur, Meyer Type 5
1511 MDL018 Madelung Deformity, Unilateral 5
1512 MDL017 Madelung Deformity, Bilateral 5
1513 CHR512 Cheirospondyloenchondromatosis 5
1514 PTL007 Patella Aplasia/hypoplasia, Unilateral 5
1515 AML034 Amelia of Upper Limb, Unilateral 5
1516 AML035 Amelia of Upper Limb, Bilateral 5
1517 AML033 Amelia of Lower Limb, Unilateral 5
1518 AML032 Amelia of Lower Limb, Bilateral 5
1519 CNG391 Congenital Pseudoarthrosis of the Limbs 5
1520 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
1521 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1522 FCL034 Facial Dermoid Cyst 5
1523 CMM016 Commissural Lip Fistula 5
1524 CHN051 Choanal Atresia, Unilateral 5
1525 CNG227 Congenital Nasal Pyriform Aperture Stenosis with Holoprosencephaly 5
1526 20Q002 20q11.2 Microduplication Syndrome 5
1527 ISL117 Isolated Congenital Radial Head Dislocation 5
1528 AGN009 Agenesis and Aplasia of Uterine Body 5
1529 UTR055 Uterine Cervical Aplasia and Agenesis 5
1530 CNG517 Congenital Agenesis of the Scrotum 5
1531 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 5
1532 P PST085 Postaxial Polydactyly of Toes, Bilateral 5
1533 P ATS360 Autosomal Recessive Intellectual Disability 58 5
1534 c ATS348 Autosomal Dominant Intellectual Disability 30 5
1535 INT219 Intramural Coronary Arterial Course 4
1536 HYP506 Hypoplasia of the Mitral Valve Annulus 4
1537 OPN003 Open Iniencephaly 4
1538 CLS021 Closed Iniencephaly 4
1539 ISL106 Isolated Congenital Microcephaly 4
1540 ISL044 Isolated Arhinencephaly 4
1541 c GLC035 Glaucoma, Primary Infantile Type 3a 4
1542 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1543 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1544 c GLC029 Glaucoma Type 1c 4
1545 c PRM147 Primary Megaureter, Adult-Onset Form 4
1546 ENC035 Encircling Double Aortic Arch 4
1547 DGS007 Digestive Duplication 4
1548 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1549 P TSS001 Tessier Number 5 Facial Cleft 4
1550 ISL107 Isolated Congenital Syngnathia 4
1551 c MTR065 Maternal Uniparental Disomy of Chromosome 21 4
1552 c MTR079 Maternal Uniparental Disomy of Chromosome 13 4
1553 c PTR022 Paternal Uniparental Disomy of Chromosome 7 4
1554 c PTR021 Paternal Uniparental Disomy of Chromosome 21 4
1555 c PTR023 Paternal Uniparental Disomy of Chromosome 13 4
1556 2P1003 2p13.2 Microdeletion Syndrome 4
1557 CNG315 Congenital Vertical Talus, Unilateral 4
1558 CNG316 Congenital Vertical Talus, Bilateral 4
1559 MCR187 Macrodactyly of Fingers, Bilateral 4
1560 MCR189 Macrodactyly of Toes, Bilateral 4
1561 c FML317 Familial Monosomy 7 Syndrome 4
1562 CNG270 Congenital Primary Megaureter, Obstructed Form 4
1563 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1564 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
1565 CRN206 Coronary Artery Intramyocardial Course 4
1566 ART114 Aortopulmonary Coronary Arterial Course 4
1567 ABN010 Abnormal Number of Coronary Ostia 4
1568 MLP005 Malposition of the Coronary Ostium 4
1569 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 4
1570 DSC011 Discrete Fibromuscular Subaortic Stenosis 4
1571 CNG361 Congenital Supravalvular Mitral Ring 4
1572 CNG360 Congenital Unguarded Mitral Orifice 4
1573 MTR068 Mitral Valve Agenesis 4
1574 ANM025 Anomaly of the Mitral Subvalvular Apparatus 4
1575 STR076 Straddling and/or Overriding Mitral Valve 4
1576 STR075 Straddling or Overriding Tricuspid Valve 4
1577 ANM024 Anomaly of the Tricuspid Valve Chordae 4
1578 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 4
1579 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
1580 XLN157 X-Linked Intellectual Disability, Porteous Type 4
1581 LTH040 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome 4
1582 LPT012 Leptomyelolipoma 4
1583 ISL035 Isolated Amyelia 4
1584 OVR116 Overgrowth Syndrome with 2q37 Translocations 4
1585 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 4
1586 CRV059 Cervicofacial Fibrochondroma 4
1587 NSL016 Nasal Dorsum Fistula/cyst 4
1588 PNN004 Pinnae Fistula or Cyst 4
1589 SPR109 Supratip Dysplasia 4
1590 XLN147 X-Linked Intellectual Disability, Stoll Type 4
1591 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 4
1592 PRT109 Partially Involuting Congenital Hemangioma 4
1593 FRN038 Frontonasal Arteriovenous Malformation 4
1594 NNT001 Neonatal Infective Mastitis 4
1595 c SPL020 Split Hand Split Foot Malformation Autosomal Recessive 4
1596 TBL020 Tubular Duplication of the Esophagus 3
1597 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3
1598 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 3
1599 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 3
1600 MDN006 Median Cleft of the Upper Lip and Maxilla 3
1601 c TSS003 Tessier Number 6 Facial Cleft 3
1602 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 3
1603 CNG322 Congenital Elbow Dislocation, Unilateral 3
1604 CNG321 Congenital Elbow Dislocation, Bilateral 3
1605 CNG317 Congenital Genu Flexum 3
1606 CNG320 Congenital Patella Dislocation, Unilateral 3
1607 CNG319 Congenital Patella Dislocation, Bilateral 3
1608 GLP005 Glioependymal/ependymal Cyst 3
1609 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3
1610 PTS016 Ptosis-Syndactyly-Learning Difficulties Syndrome 3
1611 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 3
1612 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 3
1613 WRF003 Warfarin Syndrome 31
1614 EMB004 Embryonal Carcinoma 59
1615 PRL032 Perlman Syndrome 44
1616 c CNG133 Congenital Varicella Syndrome 29
1617 P VRC007 Varicella, Severe Recurrent 8
1618 TWN001 Twin-to-Twin Transfusion Syndrome 51
1619 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 36
1620 P OTS002 Otospondylomegaepiphyseal Dysplasia 45
1621 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 44
1622 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 44
1623 DTH005 Diethylstilbestrol Syndrome 29
1624 FTL009 Fetal Akinesia Deformation Sequence 54
1625 IMM039 Immune Hydrops Fetalis 33
1626 FTL011 Fetal Aminopterin Syndrome 9
1627 FTL018 Fetal Indomethacin Syndrome 17
1628 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 14
1629 PHN003 Phenylketonuria 73
1630 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 55
1631 P ICH004 Ichthyosis 54
1632 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 44
1633 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 42
1634 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 35
1635 c ATS013 Autosomal Recessive Congenital Ichthyosis 35
1636 TST033 Testicular Regression Syndrome 32
1637 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 30
1638 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 29
1639 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
1640 EMB015 Embryonal Tumor with Multilayered Rosettes 27
1641 c ICH023 Ichthyosis, Acquired 26
1642 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 25
1643 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 24
1644 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 24
1645 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 21
1646 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 20
1647 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 17
1648 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 16
1649 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 15
1650 P END039 Endodermal Sinus Tumor 44
1651 TRT001 Teratocarcinoma 41
1652 c ADL047 Adult Endodermal Sinus Tumor 9
1653 MRS006 Morse-Rawnsley-Sargent Syndrome 5
1654 c ART119 Arthrogryposis, Distal, Type 5 49
1655 c ART120 Arthrogryposis, Distal, Type 3 47
1656 c ART061 Arthrogryposis, Distal, Type 2a 45
1657 c ART146 Arthrogryposis, Distal, Type 9 41
1658 P BTR001 Botryoid Rhabdomyosarcoma 40
1659 c ART147 Arthrogryposis, Distal, Type 7 35
1660 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 33
1661 GCH018 Gaucher Disease, Perinatal Lethal 31
1662 c ART112 Arthrogryposis, Distal, Type 10 26
1663 c ART128 Arthrogryposis, Distal, Type 6 23
1664 FTL024 Fetal Minoxidil Syndrome 15
1665 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 13
1666 PHN013 Phenobarbital Antenatal Exposure 9
1667 c ADL031 Adult Botryoid Rhabdomyosarcoma 6
1668 NRR002 Norrie Disease 61
1669 P RBL001 Rubella 61
1670 c CNG124 Congenital Rubella 47
1671 EMB007 Embryonal Sarcoma 47
1672 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 45
1673 BWN001 Bowen-Conradi Syndrome 44
1674 STR094 Stromme Syndrome 34
1675 c LTH042 Lethal Congenital Contracture Syndrome 10 24
1676 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 24
1677 FTL064 Fetal Methylmercury Syndrome 22
1678 HRS002 Hersh Podruch Weisskopk Syndrome 21
1679 MTR016 Maternal Hyperphenylalaninemia 18
1680 CCN012 Cocaine Antenatal Exposure 17
1681 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 14
1682 P FTL014 Fetal Brain Disruption Sequence 11
1683 NNT022 Neonatal Ovarian Cyst 11
1684 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
1685 SMM002 Semmekrot Haraldsson Weemaes Syndrome 3
1686 ANT075 Antihypertensive Drugs Antenatal Exposure 3
1687 FTL017 Fetal Enterovirus Syndrome 3
1688 P FNC027 Fanconi Anemia, Complementation Group a 78
1689 MRF001 Marfan Syndrome 75
1690 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1691 FBR012 Fabry Disease 72
1692 CRZ001 Crouzon Syndrome 71
1693 DWN001 Down Syndrome 70
1694 WRN001 Werner Syndrome 70
1695 P TTR001 Tetralogy of Fallot 70
1696 CNT061 Conotruncal Heart Malformations 70
1697 P OST001 Osteopetrosis 70
1698 P DMN001 Diamond-Blackfan Anemia 70
1699 APR006 Apert Syndrome 69
1700 P NRF023 Neurofibromatosis, Type Ii 69
1701 P TRN020 Turner Syndrome 69
1702 P TBR001 Tuberous Sclerosis 69
1703 SCH036 Scheie Syndrome 68
1704 P HYD006 Hydrocephalus 68
1705 P PSD087 Pseudoxanthoma Elasticum 67
1706 P HLP001 Holoprosencephaly 67
1707 P MCL013 Mucolipidosis Iv 67
1708 P PRT008 Proteus Syndrome 67
1709 CST001 Costello Syndrome 67
1710 P CWD001 Cowden Disease 67
1711 P PRD006 Prader-Willi Syndrome 66
1712 P CRN015 Cornelia De Lange Syndrome 65
1713 P INT068 Intestinal Disease 65
1714 c TBR026 Tuberous Sclerosis 2 65
1715 c ART101 Aortic Valve Disease 2 65
1716 c MCP050 Mucopolysaccharidosis, Type Ii 64
1717 FBR011 Fibrodysplasia Ossificans Progressiva 64
1718 c MCP049 Mucopolysaccharidosis, Type Vii 64
1719 WLL001 Williams-Beuren Syndrome 63
1720 c DPH024 Diaphragmatic Hernia, Congenital 63
1721 c NRF024 Neurofibromatosis, Type I 63
1722 c TBR025 Tuberous Sclerosis 1 63
1723 P HYP055 Hypoplastic Left Heart Syndrome 63
1724 P CLD001 Cleidocranial Dysplasia 63
1725 HTC003 Hutchinson-Gilford Progeria Syndrome 62
1726 CHR619 Chromosome 2q35 Duplication Syndrome 62
1727 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 62
1728 P KBK002 Kabuki Syndrome 1 62
1729 MCR013 Microphthalmia 61
1730 c MCP024 Mucopolysaccharidosis Type Vi 61
1731 P BRD002 Bardet-Biedl Syndrome 61
1732 P TRC072 Treacher Collins Syndrome 1 61
1733 ELL001 Ellis-Van Creveld Syndrome 61
1734 BRN056 Bronchopulmonary Dysplasia 61
1735 PLM070 Pulmonic Stenosis 61
1736 P MLG056 Malignant Hyperthermia 60
1737 DNH001 Donohue Syndrome 60
1738 SPN008 Spondyloepiphyseal Dysplasia Congenita 60
1739 PTR032 Peters-Plus Syndrome 60
1740 c PCH015 Pachyonychia Congenita 1 59
1741 P EPD009 Epidermolysis Bullosa Dystrophica 59
1742 PLC005 Placental Insufficiency 59
1743 P HYP035 Hypophosphatasia 58
1744 PTN001 Patent Foramen Ovale 58
1745 P BCK002 Beckwith-Wiedemann Syndrome 58
1746 HMF006 Hemifacial Microsomia 58
1747 P HLL001 Hallermann-Streiff Syndrome 58
1748 c MCL062 Mucolipidosis Ii Alpha/beta 58
1749 c BRD014 Bardet-Biedl Syndrome 2 58
1750 c PRX045 Peroxisome Biogenesis Disorder 1b 57
1751 c INT072 Intestinal Pseudo-Obstruction 57
1752 P WRD001 Waardenburg's Syndrome 57
1753 c CRP023 Carpenter Syndrome 1 57
1754 VND007 Van Der Woude Syndrome 1 57
1755 HYP042 Hypochondroplasia 57
1756 P OCL013 Oculodentodigital Dysplasia 57
1757 P SLV001 Silver-Russell Syndrome 57
1758 P RTH001 Rothmund-Thomson Syndrome 57
1759 PRR016 Pierre Robin Syndrome 57
1760 P STC001 Stickler Syndrome 56
1761 c MCP001 Mucopolysaccharidosis Iii 56
1762 c BRD011 Bardet-Biedl Syndrome 10 56
1763 RTN209 Retinoschisis 1, X-Linked, Juvenile 56
1764 P STS008 Sotos Syndrome 1 56
1765 c BRD010 Bardet-Biedl Syndrome 1 56
1766 c CHR320 Chiari Malformation Type I 56
1767 ALS001 Alstrom Syndrome 55
1768 MCN007 Meconium Aspiration Syndrome 55
1769 P INT070 Intestinal Obstruction 55
1770 P CNG411 Congenital Disorder of Glycosylation, Type in 55
1771 PPL025 Popliteal Pterygium Syndrome 55
1772 DXT001 Dextrocardia 55
1773 P SCK004 Seckel Syndrome 55
1774 SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
1775 ARS001 Aarskog-Scott Syndrome 55
1776 c BRD013 Bardet-Biedl Syndrome 12 55
1777 FCL081 Focal Cortical Dysplasia, Type Ii 55
1778 HRL003 Hurler Syndrome 55
1779 MCK005 Mckusick-Kaufman Syndrome 55
1780 c BRD012 Bardet-Biedl Syndrome 11 55
1781 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55
1782 SPR004 Supravalvular Aortic Stenosis 54
1783 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 54
1784 SMT008 Smith-Magenis Syndrome 54
1785 CLS005 Clouston Syndrome 54
1786 LPD016 Lipoid Proteinosis of Urbach and Wiethe 54
1787 P HYD033 Hydrolethalus Syndrome 1 54
1788 MYL020 Myelomeningocele 54
1789 SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 54
1790 ACR011 Acromesomelic Dysplasia, Maroteaux Type 54
1791 MLT135 Multiple Sulfatase Deficiency 54
1792 c VSC019 Vesicoureteral Reflux 1 54
1793 ART001 Arterial Tortuosity Syndrome 53
1794 c ACH041 Achondrogenesis, Type Ii 53
1795 PHL006 Phelan-Mcdermid Syndrome 53
1796 P AXN002 Axenfeld-Rieger Syndrome 53
1797 P FML012 Familial Partial Lipodystrophy 53
1798 GRG001 Greig Cephalopolysyndactyly Syndrome 53
1799 P CRN108 Cranioectodermal Dysplasia 1 53
1800 ACR013 Acrodysostosis 53
1801 EBS001 Ebstein Anomaly 52
1802 ARM001 Aromatase Deficiency 52
1803 c WRD030 Waardenburg Syndrome, Type 1 52
1804 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1805 c CCK007 Cockayne Syndrome B 52
1806 MCN017 Meconium Ileus 52
1807 P SHR001 Short Bowel Syndrome 52
1808 c WLF013 Wolfram Syndrome 1 52
1809 c MCP043 Mucopolysaccharidosis, Type Iiia 52
1810 P ADM011 Adams-Oliver Syndrome 52
1811 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 52
1812 EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 52
1813 CLB010 Coloboma of Macula 52
1814 PSD012 Pseudoachondroplasia 52
1815 c ORF037 Orofaciodigital Syndrome I 51
1816 CCH002 Coach Syndrome 51
1817 FRS002 Frasier Syndrome 51
1818 AGN012 Agnathia-Otocephaly Complex 51
1819 BLL001 Baller-Gerold Syndrome 51
1820 c GLC097 Glaucoma 3, Primary Congenital, a 51
1821 P PRX021 Proximal Symphalangism 51
1822 CHR101 Char Syndrome 51
1823 MLT145 Multiple Enchondromatosis, Maffucci Type 51
1824 PYC001 Pycnodysostosis 51
1825 CFF003 Caffey Disease 51
1826 c PST041 Posterior Urethral Valves 51
1827 P GND004 Gonadal Dysgenesis 50
1828 P PRN026 Porencephaly 50
1829 c RNG023 Ring Chromosome 7 50
1830 c MCL046 Mucolipidosis Iii Alpha/beta 50
1831 PTS001 Patau Syndrome 50
1832 P PSD015 Pseudohypoparathyroidism 50
1833 ULN003 Ulnar-Mammary Syndrome 50
1834 P WLL002 Weill-Marchesani Syndrome 50
1835 P FBR025 Fibrochondrogenesis 50
1836 BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50
1837 ACR012 Aicardi Syndrome 49
1838 OCC006 Occipital Horn Syndrome 49
1839 SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 49
1840 PYL017 Pyle Disease 49
1841 CTY001 Cat Eye Syndrome 49
1842 NLX004 Neu-Laxova Syndrome 1 49
1843 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1844 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1845 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 49
1846 TTR011 Tetraploidy 49
1847 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
1848 RNL078 Renal Dysplasia 49
1849 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49
1850 c BRC078 Brachydactyly, Type A1 49
1851 c SPL024 Split-Hand/foot Malformation 3 49
1852 c CCK008 Cockayne Syndrome a 48
1853 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 48
1854 PLM041 Pulmonary Valve Stenosis 48
1855 CRB045 Cerebellar Hypoplasia 48
1856 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 48
1857 CHR594 Chromosome 3q29 Deletion Syndrome 48
1858 YNS002 Yunis-Varon Syndrome 48
1859 c DMN023 Diamond-Blackfan Anemia 1 48
1860 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
1861 MLT134 Multiple Pterygium Syndrome, Lethal Type 48
1862 JCK001 Jackson-Weiss Syndrome 48
1863 GLD006 Goldberg-Shprintzen Syndrome 48
1864 PLC008 Placenta Disease 48
1865 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48
1866 P CRN013 Craniodiaphyseal Dysplasia 48
1867 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 47
1868 c BRN108 Branchiootic Syndrome 1 47
1869 CRD002 Cri-Du-Chat Syndrome 47
1870 P MRD002 Marden-Walker Syndrome 47
1871 P LRS001 Larsen Syndrome 47
1872 c PCH012 Pachyonychia Congenita 2 47
1873 P CLB034 Coloboma, Ocular, Autosomal Dominant 47
1874 P JNC001 Junctional Epidermolysis Bullosa 47
1875 P MSC022 Mosaic Variegated Aneuploidy Syndrome 47
1876 MLL018 Miller-Dieker Lissencephaly Syndrome 47
1877 TRC062 Tricuspid Atresia 47
1878 HMM003 Hemimegalencephaly 47
1879 NRM019 Neuraminidase Deficiency 47
1880 P NLD001 Nail Disease 47
1881 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 46
1882 c LSS005 Lissencephaly 1 46
1883 c WRD020 Waardenburg Syndrome, Type 4a 46
1884 P ORF001 Orofaciodigital Syndrome 46
1885 P SCL048 Sclerosteosis 46
1886 c BRD044 Bardet-Biedl Syndrome 17 46
1887 SHR098 Short-Rib Thoracic Dysplasia 12 46
1888 CRN005 Craniofrontonasal Syndrome 46
1889 KPS002 Kaposiform Hemangioendothelioma 46
1890 VTM027 Vitamin D-Dependent Rickets, Type 2a 46
1891 CHR222 Chromosome 1p36 Deletion Syndrome 46
1892 P MLT072 Multiple Synostoses Syndrome 46
1893 ACR058 Acrofacial Dysostosis 1, Nager Type 46
1894 c ACH042 Achondrogenesis, Type Ib 46
1895 P AML002 Amelogenesis Imperfecta 46
1896 c CRN139 Cornelia De Lange Syndrome 1 46
1897 c ACH033 Achondrogenesis, Type Ia 46
1898 LRN001 Laurence-Moon Syndrome 46
1899 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 46
1900 BRN003 Branchiooculofacial Syndrome 46
1901 P CRN276 Corneal Endothelial Dystrophy 45
1902 CNN011 Cenani-Lenz Syndactyly Syndrome 45
1903 c BRC079 Brachydactyly, Type A2 45
1904 P CHR342 Chiari Malformation 45
1905 c USH038 Usher Syndrome, Type Iiia 45
1906 c MCP044 Mucopolysaccharidosis, Type Iiib 45
1907 c 46X001 46 Xy Gonadal Dysgenesis 45
1908 P LSS036 Lissencephaly, X-Linked, 1 45
1909 c ANT077 Anterior Segment Dysgenesis 1 45
1910 MCR037 Macroglossia 44
1911 FRY006 Fryns Microphthalmia Syndrome 44
1912 SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 44
1913 P BRC015 Bruck Syndrome 44
1914 PST049 Postaxial Acrofacial Dysostosis 44
1915 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 44
1916 P ACH011 Achondrogenesis 44
1917 ASP004 Asphyxia Neonatorum 44
1918 c BRD020 Bardet-Biedl Syndrome 8 44
1919 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 44
1920 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44
1921 HND004 Hand-Foot-Genital Syndrome 44
1922 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 44
1923 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43
1924 OST062 Osteoarthritis with Mild Chondrodysplasia 43
1925 c ORF034 Orofaciodigital Syndrome Vi 43
1926 CHR211 Chromosome 18p Deletion Syndrome 43
1927 HMH004 Hemihyperplasia, Isolated 43
1928 CHR492 Chromosome 13q14 Deletion Syndrome 43
1929 LRY029 Laryngomalacia 43
1930 TRP014 Triploidy 43
1931 P CHN044 Chondrodysplasia Punctata Syndrome 43
1932 c PLY147 Polydactyly, Postaxial, Type A1 43
1933 c HLP023 Holoprosencephaly 1 43
1934 c BRD018 Bardet-Biedl Syndrome 6 43
1935 P FRN012 Frontometaphyseal Dysplasia 43
1936 c CHR579 Chiari Malformation Type Ii 42
1937 c LRS002 Larsen-Like Syndrome 42
1938 c BRD048 Bardet-Biedl Syndrome 18 42
1939 CTS003 Coats Disease 42
1940 P SYN012 Synpolydactyly 42
1941 c BRD016 Bardet-Biedl Syndrome 4 42
1942 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 42
1943 c PRX059 Peroxisome Biogenesis Disorder 1a 41
1944 GLC106 Glucocorticoid Resistance, Generalized 41
1945 JLL001 Jalili Syndrome 41
1946 c BRD033 Bardet-Biedl Syndrome 13 41
1947 P OPT048 Opitz-Gbbb Syndrome 41
1948 CRR002 Currarino Syndrome 41
1949 46X012 46,xy Partial Gonadal Dysgenesis 41
1950 c SPN330 Spondylocostal Dysostosis 5 41
1951 c SPL034 Split-Hand/foot Malformation 4 41
1952 SPN060 Spondylocarpotarsal Synostosis Syndrome 41
1953 LRW001 Leri-Weill Dyschondrosteosis 41
1954 P ORF002 Orofacial Cleft 41
1955 c MCR263 Microphthalmia, Syndromic 1 41
1956 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
1957 P SPL061 Split Hand-Foot Malformation 41
1958 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 41
1959 FBL002 Fibular Hypoplasia and Complex Brachydactyly 40
1960 P PNC045 Pancreatic Agenesis 40
1961 c SPL067 Split-Hand/foot Malformation 1 40
1962 c BRD032 Bardet-Biedl Syndrome 14 40
1963 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 40
1964 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 40
1965 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40
1966 PTC002 Potocki-Lupski Syndrome 40
1967 TTR025 Tetraamelia Syndrome, Autosomal Recessive 40
1968 ACH001 Acheiropody 40
1969 c HLP024 Holoprosencephaly 2 40
1970 NTV001 Native American Myopathy 40
1971 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
1972 HRL004 Hurler-Scheie Syndrome 40
1973 c BRD015 Bardet-Biedl Syndrome 3 40
1974 CNG069 Congenital Cytomegalovirus 40
1975 BHR002 Bohring-Opitz Syndrome 39
1976 c AXN010 Axenfeld-Rieger Syndrome, Type 3 39
1977 P FRN036 Frontonasal Dysplasia 1 39
1978 BLR027 Blue Rubber Bleb Nevus 39
1979 c PSD117 Pseudohypoparathyroidism, Type Ic 39
1980 c CNG413 Congenital Short Bowel Syndrome 39
1981 HYP776 Hyperparathyroidism, Neonatal Severe 39
1982 TRP009 Triple X Syndrome 39
1983 c DSB006 Desbuquois Dysplasia 1 39
1984 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 39
1985 ARC007 Arachnoid Cysts 39
1986 c HLP026 Holoprosencephaly 3 39
1987 DPH019 Diaphanospondylodysostosis 39
1988 P BRN042 Branchiootic Syndrome 39
1989 GST052 Gestational Choriocarcinoma 39
1990 DDN011 Duodenal Atresia 39
1991 MXL016 Maxillonasal Dysplasia, Binder Type 39
1992 OPS002 Opsismodysplasia 38
1993 c HLP029 Holoprosencephaly 4 38
1994 c MLG147 Malignant Hyperthermia 1 38
1995 P KLN006 Koolen-De Vries Syndrome 38
1996 c LPD019 Lipodystrophy, Partial, Acquired 38
1997 STV003 Stuve-Wiedemann Syndrome 38
1998 c BRD035 Bardet-Biedl Syndrome 15 38
1999 47X002 47,xyy 38
2000 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 38
2001 EPD022 Epidermolysis Bullosa Pruriginosa 38
2002 ACR041 Acromelic Frontonasal Dysostosis 38
2003 P ATL001 Atelosteogenesis 38
2004 c OTP007 Otopalatodigital Syndrome, Type Ii 38
2005 c BRC081 Brachydactyly, Type C 38
2006 c PCH010 Pachyonychia Congenita 3 38
2007 CRN088 Craniorachischisis 38
2008 PTC001 Potocki-Shaffer Syndrome 38
2009 LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 38
2010 P MRN003 Marinesco-Sjogren Syndrome 38
2011 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 38
2012 c ADM005 Adams-Oliver Syndrome 1 38
2013 c ZMM002 Zimmermann-Laband Syndrome 1 38
2014 PRK003 Parkes Weber Syndrome 38
2015 c HYP543 Hypoplastic Left Heart Syndrome 1 38
2016 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 38
2017 c OTP006 Otopalatodigital Syndrome, Type I 38
2018 RVL002 Ruvalcaba Syndrome 37
2019 c RNG008 Ring Chromosome 13 37
2020 c AML020 Amelogenesis Imperfecta, Type Iv 37
2021 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 37
2022 c ATL011 Atelosteogenesis, Type I 37
2023 c RNG004 Ring Chromosome 1 37
2024 c SPL070 Split-Hand/foot Malformation 2 37
2025 c ANT071 Anterior Segment Dysgenesis 4 37
2026 c MCR124 Microphthalmia, Isolated 1 37
2027 c ATS282 Autosomal Recessive Malignant Osteopetrosis 37
2028 c BRC051 Brachydactyly, Type B1 37
2029 EMN001 Emanuel Syndrome 37
2030 TRS002 Tarsal-Carpal Coalition Syndrome 37
2031 c BRD017 Bardet-Biedl Syndrome 5 37
2032 c WRD032 Waardenburg Syndrome, Type 2a 37
2033 c AML044 Amelogenesis Imperfecta, Type Ig 37
2034 c SYN061 Syndactyly, Type Iv 37
2035 RNL025 Renal Hypoplasia 37
2036 P ANX007 Anauxetic Dysplasia 1 36
2037 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
2038 c OST126 Osteopetrosis, Autosomal Recessive 1 36
2039 c RTS003 Ritscher-Schinzel Syndrome 1 36
2040 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
2041 DYS048 Dysplasia Epiphysealis Hemimelica 36
2042 CYL001 Cayler Cardiofacial Syndrome 36
2043 c AML017 Amelogenesis Imperfecta, Type Ib 36
2044 c LPD021 Lipodystrophy, Familial Partial, Type 3 36
2045 c PNC106 Pancreatic Agenesis 1 36
2046 c CTS045 Cutis Laxa, Autosomal Dominant 1 36
2047 CHR659 Chromosome 22q11.2 Duplication Syndrome 36
2048 P SMT022 Smith-Mccort Dysplasia 1 36
2049 MLT084 Multicystic Dysplastic Kidney 36
2050 c AML061 Amelogenesis Imperfecta, Type Ie 36
2051 P SYN059 Syndactyly, Type V 36
2052 c STC015 Stickler Syndrome, Type I 36
2053 SLT005 Solitary Median Maxillary Central Incisor 36
2054 WYR002 Weyers Acrofacial Dysostosis 36
2055 CHR518 Chromosome 9p Deletion Syndrome 36
2056 CTS011 Cutis Marmorata Telangiectatica Congenita 36
2057 CHN057 Chondrodysplasia, Grebe Type 36
2058 HYD001 Hydranencephaly 36
2059 JBR005 Joubert Syndrome with Ocular Anomalies 36
2060 c BRC109 Brachydactyly, Type E1 35
2061 RNL105 Renal Agenesis, Unilateral 35
2062 DSM002 Desmosterolosis 35
2063 CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 35
2064 ASC009 Ascites, Chylous 35
2065 BSM002 Bosma Arhinia Microphthalmia Syndrome 35
2066 PLC006 Placental Choriocarcinoma 35
2067 SBC028 Subcortical Band Heterotopia 35
2068 c SCL042 Sclerosteosis 2 35
2069 MTT002 Metatropic Dysplasia 35
2070 c SPL033 Split-Hand/foot Malformation 6 35
2071 LRN006 Laurin-Sandrow Syndrome 35
2072 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 35
2073 SLF014 Sulfite Oxidase Deficiency, Isolated 35
2074 c SCL045 Sclerosteosis 1 35
2075 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 35
2076 P CRB154 Cerebrocostomandibular Syndrome 35
2077 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 35
2078 c BRD045 Bardet-Biedl Syndrome 19 35
2079 EMP011 Emphysema, Congenital Lobar 35
2080 c MCP045 Mucopolysaccharidosis, Type Iiic 35
2081 CTL005 Catel-Manzke Syndrome 35
2082 PRT049 Partial Deletion of Y 34
2083 c MTR080 Mitral Valve Prolapse 1 34
2084 c MLT059 Multiple Synostoses Syndrome 1 34
2085 P XLN110 X-Linked Charcot-Marie-Tooth Disease 34
2086 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34
2087 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 34
2088 PSD021 Pseudovaginal Perineoscrotal Hypospadias 34
2089 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 34
2090 CHR662 Chromosome 15q13.3 Deletion Syndrome 34
2091 P ANT086 Anterior Segment Dysgenesis 2 34
2092 GNT026 Gnathodiaphyseal Dysplasia 34
2093 LTR009 Lateral Meningocele Syndrome 34
2094 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 34
2095 c WRD031 Waardenburg Syndrome, Type 3 34
2096 TMP012 Temple Syndrome 34
2097 LNG040 Langer Mesomelic Dysplasia 34
2098 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
2099 c PSD104 Pseudohypoparathyroidism, Type Ii 34
2100 FMR018 Femoral-Facial Syndrome 34
2101 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 34
2102 PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 34
2103 48X003 48,xxyy Syndrome 33
2104 TRC035 Tracheal Agenesis 33
2105 CHR075 Choriocarcinoma of Ovary 33
2106 CRY032 Carey-Fineman-Ziter Syndrome 33
2107 c WLF009 Wolfram Syndrome 2 33
2108 END059 Endocrine-Cerebroosteodysplasia 33
2109 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 33
2110 KGM001 Kagami-Ogata Syndrome 33
2111 c OST129 Osteopetrosis, Autosomal Recessive 2 33
2112 LMB010 Lambert Syndrome 33
2113 MSC020 Mosaic Trisomy 8 33
2114 c BRD047 Bardet-Biedl Syndrome 16 33
2115 c ATL015 Atelosteogenesis, Type Ii 33
2116 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33
2117 DND005 Dandy-Walker Complex 33
2118 c WRD010 Waardenburg Syndrome Type 4 33
2119 WTK002 Witkop Syndrome 33
2120 P MTP005 Metaphyseal Anadysplasia 33
2121 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 33
2122 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 33
2123 GRN034 Grange Syndrome 33
2124 c RNG020 Ring Chromosome 4 33
2125 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 33
2126 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 33
2127 49X002 49,xxxxy Syndrome 33
2128 SCH071 Schaaf-Yang Syndrome 33
2129 TTR012 Tetrasomy 9p 32
2130 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 32
2131 TRC097 Tracheomalacia 32
2132 c AML057 Amelogenesis Imperfecta, Type Iiia 32
2133 c FNC028 Fanconi Anemia, Complementation Group L 32
2134 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 32
2135 PRT048 Partial Atrioventricular Canal 32
2136 c RNG018 Ring Chromosome 22 32
2137 VRT007 Vertical Talus, Congenital 32
2138 CLL036 Culler-Jones Syndrome 32
2139 PRG023 Progeroid Short Stature with Pigmented Nevi 32
2140 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32
2141 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 32
2142 c MCP046 Mucopolysaccharidosis, Type Iiid 32
2143 SCH030 Schneckenbecken Dysplasia 32
2144 c WRD024 Waardenburg Syndrome, Type 4c 32
2145 c PLY148 Polydactyly, Preaxial Ii 32
2146 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 32
2147 BLR028 Biliary Atresia, Extrahepatic 32
2148 c MCP048 Mucopolysaccharidosis, Type Ivb 32
2149 c HLP028 Holoprosencephaly 5 32
2150 c SPL025 Split-Hand/foot Malformation 5 32
2151 DXT002 Dextrocardia with Situs Inversus 32
2152 OTD001 Otodental Dysplasia 31
2153 ACR099 Acrofacial Dysostosis, Catania Type 31
2154 HYP596 Hypophosphatasia, Childhood 31
2155 GRL004 Gorlin-Chaudhry-Moss Syndrome 31
2156 c LSS037 Lissencephaly, X-Linked, 2 31
2157 P EHL081 Ehlers-Danlos Syndrome, Classic-Like 31
2158 c FRN049 Frontometaphyseal Dysplasia 1 31
2159 c EPP017 Epiphyseal Dysplasia, Multiple, 1 31
2160 ATY016 Atypical Werner Syndrome 31
2161 DYG001 Dyggve-Melchior-Clausen Disease 31
2162 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 31
2163 HMF010 Hemifacial Microsomia with Radial Defects 31
2164 CHR582 Chromosome 3q29 Duplication Syndrome 31
2165 TRP006 Tarp Syndrome 31
2166 c STC013 Stickler Syndrome, Type Ii 31
2167 P OTF004 Otofaciocervical Syndrome 1 31
2168 LCR013 Lacrimal Duct Defect 31
2169 c LSS006 Lissencephaly 2 31
2170 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 31
2171 CHR525 Chromosome Xq26.3 Duplication Syndrome 31
2172 OCL033 Oculocerebral Syndrome with Hypopigmentation 31
2173 c BRD019 Bardet-Biedl Syndrome 7 31
2174 PLT007 Palatopharyngeal Incompetence 31
2175 MSC021 Mosaic Trisomy 9 31
2176 c MCR245 Microphthalmia, Syndromic 8 31
2177 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 30
2178 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 30
2179 c HLP027 Holoprosencephaly 7 30
2180 c PRV019 Periventricular Nodular Heterotopia 1 30
2181 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30
2182 P ANG013 Angioma Serpiginosum 30
2183 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 30
2184 OCL039 Oculoectodermal Syndrome 30
2185 SPN348 Spondylometaphyseal Dysplasia, Axial 30
2186 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 30
2187 c MCR329 Microcephaly, Autosomal Dominant 30
2188 PSD046 Pseudotrisomy 13 Syndrome 30
2189 c CCK003 Cockayne Syndrome Type Ii 30
2190 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
2191 c PCH011 Pachyonychia Congenita 4 30
2192 PRG123 Progeroid Syndrome, Neonatal 30
2193 FML264 Familial Bicuspid Aortic Valve 30
2194 INN003 Iniencephaly 30
2195 SPN154 Spondyloperipheral Dysplasia 30
2196 c KNN009 Kenny-Caffey Syndrome, Type 1 30
2197 MCR025 Microhydranencephaly 30
2198 PLY135 Polydactyly, Postaxial, with Progressive Myopia 30
2199 CLV004 Calvarial Hyperostosis 29
2200 c WRD019 Waardenburg Syndrome, Type 4b 29
2201 CTR014 Cataract Microcornea Syndrome 29
2202 WLD004 Wildervanck Syndrome 29
2203 P FML284 Familial Vesicoureteral Reflux 29
2204 CBB002 Cobb Syndrome 29
2205 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 29
2206 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
2207 P SYN075 Syngnathia 29
2208 c PRX060 Peroxisome Biogenesis Disorder 5a 29
2209 c ATL012 Atelosteogenesis, Type Iii 29
2210 ASP026 Asplenia, Isolated Congenital 29
2211 MSM004 Mesomelia-Synostoses Syndrome 29
2212 RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 29
2213 CHR523 Chromosome 15q11.2 Deletion Syndrome 29
2214 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 29
2215 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 29
2216 c OMD001 Omodysplasia 1 29
2217 c FRN048 Frontometaphyseal Dysplasia 2 29
2218 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 29
2219 PNT009 Pontine Tegmental Cap Dysplasia 29
2220 SHR108 Short Stature, Idiopathic, X-Linked 29
2221 c PRX063 Peroxisome Biogenesis Disorder 2a 29
2222 PLM058 Pulmonary Atresia with Intact Ventricular Septum 29
2223 P XLN161 X-Linked Chondrodysplasia Punctata 29
2224 CHR209 Chromosome 17p Duplication 29
2225 ANR010 Aneurysm of Sinus of Valsalva 29
2226 FRN022 Frontofacionasal Dysplasia 29
2227 LMB008 Limb-Mammary Syndrome 29
2228 c RNG022 Ring Chromosome 6 29
2229 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
2230 DYS045 Dysosteosclerosis 28
2231 P DSB002 Desbuquois Dysplasia 28
2232 INF133 Inferior Vena Cava Interruption 28
2233 c CCK002 Cockayne Syndrome Type I 28
2234 P ZMM001 Zimmermann-Laband Syndrome 28
2235 TBL008 Tibial Hemimelia 28
2236 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 28
2237 BRN055 Bronchogenic Cyst 28
2238 MTC018 Metachondromatosis 28
2239 P ACR106 Acrocephalopolysyndactyly Type Iii 28
2240 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 28
2241 CNG134 Congenitally Corrected Transposition of the Great Arteries 28
2242 CHR270 Chromosome 9p Duplication 28
2243 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
2244 MSM016 Mesomelic Dysplasia, Kantaputra Type 28
2245 c LPD040 Lipodystrophy, Familial Partial, Type 1 28
2246 MTP028 Metaphyseal Dysplasia, Spahr Type 28
2247 NBL001 Nablus Mask-Like Facial Syndrome 28
2248 LCH015 Lichtenstein-Knorr Syndrome 28
2249 c RNG010 Ring Chromosome 15 28
2250 KLB005 Kleeblattschaedel 28
2251 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28
2252 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
2253 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 28
2254 PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 28
2255 CHR229 Chromosome 20p Duplication 28
2256 c EPP014 Epiphyseal Dysplasia, Multiple, 4 28
2257 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 27
2258 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 27
2259 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 27
2260 P RTS001 Ritscher-Schinzel Syndrome 27
2261 CHR265 Chromosome 8p Duplication 27
2262 TTR013 Tetrasomy X 27
2263 c PLY149 Polydactyly, Preaxial Iv 27
2264 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27
2265 CMP035 Complete Atrioventricular Canal 27
2266 c RNG029 Ring Chromosome 14 Syndrome 27
2267 P MCR137 Microphthalmia, Isolated 2 27
2268 c RNG007 Ring Chromosome 12 27
2269 VSC050 Vascular Malformation, Primary Intraosseous 27
2270 MCH011 Meacham Syndrome 27
2271 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 27
2272 CHR266 Chromosome 8p23.1 Deletion 27
2273 CRD017 Cardiac Valvular Dysplasia, X-Linked 27
2274 c RNG005 Ring Chromosome 10 27
2275 c FNC023 Fanconi Anemia, Complementation Group N 27
2276 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 27
2277 TRC118 Trichodentoosseous Syndrome 27
2278 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 27
2279 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27
2280 CHR268 Chromosome 8q Duplication 27
2281 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 27
2282 c CRN134 Cornelia De Lange Syndrome 2 27
2283 FML307 Familial Calcium Pyrophosphate Deposition 27
2284 PGD001 Pagod Syndrome 27
2285 c EPP013 Epiphyseal Dysplasia, Multiple, 5 27
2286 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 27
2287 NNG001 Non-Gestational Choriocarcinoma 27
2288 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 27
2289 CHR190 Chromosome 12p Duplication 27
2290 c ANT084 Anterior Segment Dysgenesis 3 27
2291 HRY005 Hairy Elbows 27
2292 c SYN060 Syndactyly, Type Iii 27
2293 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
2294 c BRC045 Brachyolmia Type 3 27
2295 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 26
2296 c BRD050 Bardet-Biedl Syndrome 21 26
2297 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 26
2298 WSM003 Weismann-Netter Syndrome 26
2299 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
2300 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
2301 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 26
2302 HYP682 Hypertelorism, Teebi Type 26
2303 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 26
2304 c PRX054 Peroxisome Biogenesis Disorder 12a 26
2305 c ALG016 Alagille Syndrome 2 26
2306 HRD037 Hardikar Syndrome 26
2307 CYS041 Cystic Angiomatosis of Bone, Diffuse 26
2308 MSC016 Mosaic Trisomy 14 26
2309 HYP648 Hypertension and Brachydactyly Syndrome 26
2310 16Q001 16q24.3 Microdeletion Syndrome 26
2311 CDL005 Caudal Duplication Anomaly 26
2312 DFF022 Diffuse Neonatal Hemangiomatosis 26
2313 46X057 46,xy Sex Reversal 8 26
2314 c RNG016 Ring Chromosome 20 26
2315 c PRT063 Proteus-Like Syndrome 26
2316 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 26
2317 c CRP022 Carpenter Syndrome 2 26
2318 c DNT021 Dent Disease 2 26
2319 PSD030 Pseudodiastrophic Dysplasia 26
2320 DPH012 Diphallia 26
2321 CHR524 Chromosome 16p13.3 Duplication Syndrome 26
2322 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
2323 BLP041 Blepharochalasis and Double Lip 26
2324 c CCK004 Cockayne Syndrome Type Iii 26
2325 c PRX053 Peroxisome Biogenesis Disorder 14b 26
2326 HYP180 Hypertrichosis Lanuginosa Congenita 26
2327 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26
2328 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 25
2329 c FNC046 Fanconi Anemia, Complementation Group P 25
2330 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 25
2331 c RNG024 Ring Chromosome 8 25
2332 CHR588 Chromosome 8q22.1 Duplication Syndrome 25
2333 c PRX055 Peroxisome Biogenesis Disorder 11a 25
2334 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 25
2335 PNC104 Pancreatic and Cerebellar Agenesis 25
2336 CHR225 Chromosome 1q21.1 Duplication Syndrome 25
2337 NVR001 Nievergelt Syndrome 25
2338 P RNL123 Renal Agenesis, Bilateral 25
2339 c PTT029 Pitt-Hopkins-Like Syndrome 1 25
2340 c HLP025 Holoprosencephaly 9 25
2341 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 25
2342 c PRX065 Peroxisome Biogenesis Disorder 3a 25
2343 MND023 Mend Syndrome 25
2344 P TTH021 Tethered Cord Syndrome 25
2345 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
2346 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
2347 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 25
2348 c DMN021 Diamond-Blackfan Anemia 6 25
2349 c RNG017 Ring Chromosome 21 25
2350 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 25
2351 c CRN109 Cranioectodermal Dysplasia 2 25
2352 c FNC029 Fanconi Anemia, Complementation Group I 25
2353 NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 25
2354 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
2355 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 25
2356 RCM003 Recombinant Chromosome 8 Syndrome 25
2357 DGT005 Digital Arthropathy-Brachydactyly, Familial 25
2358 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 25
2359 PRS051 Parastremmatic Dwarfism 25
2360 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 25
2361 c OMD002 Omodysplasia 2 25
2362 CHR212 Chromosome 18p Duplication 25
2363 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 25
2364 SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 25
2365 LLS001 Lelis Syndrome 24
2366 RMR001 Ramer Ladda Syndrome 24
2367 c MCR122 Microphthalmia, Isolated 5 24
2368 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 24
2369 c OTF003 Otofaciocervical Syndrome 2 24
2370 c PRX091 Peroxisome Biogenesis Disorder 8a 24
2371 c SMT018 Smith-Mccort Dysplasia 2 24
2372 c ORF036 Orofaciodigital Syndrome Xiv 24
2373 c LSS025 Lissencephaly 5 24
2374 ACL002 Acalvaria 24
2375 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
2376 c KBK003 Kabuki Syndrome 2 24
2377 c FNC047 Fanconi Anemia, Complementation Group Q 24
2378 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 24
2379 PRP090 Peripheral Dysostosis 24
2380 STB002 Satb2-Associated Syndrome 24
2381 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
2382 c PRX057 Peroxisome Biogenesis Disorder 4a 24
2383 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 24
2384 CLF051 Cleft Larynx, Posterior 24
2385 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
2386 c PRX048 Peroxisome Biogenesis Disorder 10a 24
2387 c CRN221 Craniosynostosis 4 24
2388 c ANT083 Anterior Segment Dysgenesis 7 24
2389 c PRX046 Peroxisome Biogenesis Disorder 7a 24
2390 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 24
2391 c ANT085 Anterior Segment Dysgenesis 5 24
2392 BNM015 Bone Mineral Density Quantitative Trait Locus 18 24
2393 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 24
2394 c MLG148 Malignant Hyperthermia 2 24
2395 c CRN111 Cranioectodermal Dysplasia 4 24
2396 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 24
2397 PLM059 Pulmonary Atresia with Ventricular Septal Defect 24
2398 LRY046 Laryngeal Web, Familial 24
2399 HGH023 High Bone Mass Osteogenesis Imperfecta 24
2400 CHR248 Chromosome 4p Duplication 23
2401 c HLP016 Holoprosencephaly 11 23
2402 c RNG013 Ring Chromosome 18 23
2403 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23
2404 PNS015 Penoscrotal Transposition 23
2405 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 23
2406 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 23
2407 CHR252 Chromosome 5p Duplication 23
2408 c OST106 Osteopetrosis, Autosomal Recessive 8 23
2409 AXL004 Axial Mesodermal Dysplasia Spectrum 23
2410 MCR067 Microcoria, Congenital 23
2411 FMR016 Femur-Fibula-Ulna Syndrome 23
2412 c WRD029 Waardenburg Syndrome, Type 2b 23
2413 c OST120 Osteopetrosis, Autosomal Recessive 5 23
2414 CGN001 Cogan-Reese Syndrome 23
2415 BRN123 Branchial Arch Syndrome, X-Linked 23
2416 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 23
2417 AMN014 Aminopterin Syndrome Sine Aminopterin 23
2418 TBS009 Teebi-Shaltout Syndrome 23
2419 DRM041 Dermoid Cysts, Familial Frontonasal 23
2420 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 23
2421 CRN272 Craniometadiaphyseal Dysplasia 23
2422 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 23
2423 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 23
2424 c PTT030 Pitt-Hopkins-Like Syndrome 2 23
2425 c CRN209 Cornelia De Lange Syndrome 5 23
2426 SYM024 Symphalangism, Distal 23
2427 c MLT060 Multiple Synostoses Syndrome 2 23
2428 c BRD051 Bardet-Biedl Syndrome 20 23
2429 c PRX052 Peroxisome Biogenesis Disorder 13a 23
2430 OSB001 Osebold-Remondini Syndrome 23
2431 c BRD021 Bardet-Biedl Syndrome 9 23
2432 c DMN017 Diamond-Blackfan Anemia 10 23
2433 c CRN110 Cranioectodermal Dysplasia 3 23
2434 c RNG015 Ring Chromosome 2 23
2435 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 23
2436 c SYM022 Symphalangism, Proximal, 1a 23
2437 c FCL046 Focal Facial Dermal Dysplasia 4 23
2438 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 23
2439 ATX037 Ataxia-Deafness-Retardation Syndrome 23
2440 ART030 Aortic Arch Interruption 23
2441 c FBR029 Fibrochondrogenesis 1 23
2442 c ADM007 Adams-Oliver Syndrome 2 23
2443 c OST137 Osteopetrosis, Autosomal Recessive 4 23
2444 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 23
2445 FBR087 Fibromatosis, Gingival, with Distinctive Facies 23
2446 c DMN019 Diamond-Blackfan Anemia 4 23
2447 OCL040 Oculomaxillofacial Dysostosis 23
2448 c DMN024 Diamond-Blackfan Anemia 7 23
2449 GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 22
2450 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
2451 GNT043 Genitopalatocardiac Syndrome 22
2452 c PRX051 Peroxisome Biogenesis Disorder 6a 22
2453 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 22
2454 c ORF045 Orofaciodigital Syndrome Xv 22
2455 c BRC048 Bruck Syndrome 2 22
2456 c PRX050 Peroxisome Biogenesis Disorder 9b 22
2457 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
2458 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 22
2459 c ACR105 Acrofrontofacionasal Dysostosis 2 22
2460 AKL001 Au-Kline Syndrome 22
2461 c ADM010 Adams-Oliver Syndrome 5 22
2462 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 22
2463 c ACR108 Acrocephalopolysyndactyly Type Iv 22
2464 DPL009 Duplication of the Pituitary Gland 22
2465 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 22
2466 c DMN040 Diamond-Blackfan Anemia 16 22
2467 LRY028 Laryngocele 22
2468 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
2469 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
2470 c MLG149 Malignant Hyperthermia 3 22
2471 LMB014 Limb-Body Wall Complex 22
2472 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 22
2473 c FNC048 Fanconi Anemia, Complementation Group O 22
2474 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 22
2475 c BRN073 Branchiootic Syndrome 2 22
2476 c DSB005 Desbuquois Dysplasia 2 22
2477 HMR018 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 22
2478 ACK001 Ackerman Syndrome 22
2479 URC005 Urachal Cyst 22
2480 c HLP022 Holoprosencephaly 8 22
2481 c MCR211 Microphthalmia, Isolated 6 22
2482 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 22
2483 c PLY136 Polydactyly, Preaxial I 22
2484 VNT030 Ventriculomegaly with Cystic Kidney Disease 22
2485 JRG001 Jorgenson Lenz Syndrome 22
2486 ACR019 Acropectoral Syndrome 22
2487 SKN024 Skin Fragility-Woolly Hair Syndrome 22
2488 c CRN215 Cornelia De Lange Syndrome 4 22
2489 c RTS002 Ritscher-Schinzel Syndrome 2 22
2490 49X001 49, Xxxxx 22
2491 c ADM012 Adams-Oliver Syndrome 6 22
2492 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 22
2493 c DMN006 Diamond-Blackfan Anemia 3 22
2494 c MCR109 Microphthalmia, Isolated 4 22
2495 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
2496 c MCR114 Microphthalmia, Isolated 3 21
2497 c PRX058 Peroxisome Biogenesis Disorder 4b 21
2498 HYP212 Hypomandibular Faciocranial Dysostosis 21
2499 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
2500 c WRD022 Waardenburg Syndrome, Type 2d 21
2501 c BRC099 Brachydactyly, Type A4 21
2502 WDS002 Woods Syndrome 21
2503 c CLB022 Coloboma, Ocular, Autosomal Recessive 21
2504 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 21
2505 c CRN135 Cornelia De Lange Syndrome 3 21
2506 c BRN128 Branchiootic Syndrome 3 21
2507 SCH025 Schisis Association 21
2508 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 21
2509 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 21
2510 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 21
2511 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
2512 c DMN029 Diamond-Blackfan Anemia 11 21
2513 EKN001 Eiken Syndrome 21
2514 ART037 Arthrogryposis and Ectodermal Dysplasia 21
2515 c PRX047 Peroxisome Biogenesis Disorder 5b 21
2516 c FNC025 Fanconi Anemia, Complementation Group J 21
2517 CRT060 Cor Triatriatum Sinister 21
2518 TTR021 Tetrasomy 21 21
2519 P CNG070 Congenital Dislocation of the Patella 21
2520 YHV001 You-Hoover-Fong Syndrome 21
2521 ACH039 Achalasia-Microcephaly Syndrome 21
2522 ACR107 Acrofacial Dysostosis, Palagonia Type 21
2523 c PRX062 Peroxisome Biogenesis Disorder 8b 21
2524 PRR029 Pierre Robin Syndrome and Oligodactyly 21
2525 c ADM009 Adams-Oliver Syndrome 4 21
2526 FCC002 Faciocardiorenal Syndrome 21
2527 SCH031 Scholte Syndrome 21
2528 c PRV018 Periventricular Nodular Heterotopia 7 21
2529 ODN020 Odontoma-Dysphagia Syndrome 21
2530 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 21
2531 c DMN018 Diamond-Blackfan Anemia 5 21
2532 c ORF046 Orofaciodigital Syndrome Xvi 21
2533 SMM003 Summitt Syndrome 21
2534 c MTR083 Mitral Valve Prolapse 3 21
2535 CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 21
2536 NSD003 Nasodigitoacoustic Syndrome 21
2537 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 21
2538 c FNC057 Fanconi Anemia, Complementation Group U 21
2539 INT231 Intellectual Disability - Athetosis - Microphthalmia 21
2540 c MLG150 Malignant Hyperthermia 4 21
2541 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 21
2542 CHR241 Chromosome 2q24 Microdeletion Syndrome 21
2543 c AML047 Amelogenesis Imperfecta, Type Ia 21
2544 CTR027 Cataract-Glaucoma 21
2545 c DMN020 Diamond-Blackfan Anemia 8 20
2546 c MLT078 Multiple Synostoses Syndrome 3 20
2547 NNN007 Non-Involuting Congenital Hemangioma 20
2548 c MCR219 Microphthalmia, Isolated 8 20
2549 KNS006 Kniest-Like Dysplasia, Lethal 20
2550 MSM019 Mesomelic Dysplasia, Savarirayan Type 20
2551 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
2552 RTH002 Rutherfurd Syndrome 20
2553 BLP009 Blepharonasofacial Malformation Syndrome 20
2554 ERM001 Ermine Phenotype 20
2555 c AML048 Amelogenesis Imperfecta, Type Ih 20
2556 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 20
2557 c FNC058 Fanconi Anemia, Complementation Group R 20
2558 MCD004 Macdermot-Winter Syndrome 20
2559 INT095 Internal Carotid Agenesis 20
2560 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 20
2561 PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 20
2562 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
2563 MZB001 Mazabraud Syndrome 20
2564 c FNC052 Fanconi Anemia, Complementation Group T 20
2565 BLT020 Bilateral Multicystic Dysplastic Kidney 20
2566 RDR002 Rodrigues Blindness 20
2567 THR032 Thoracolaryngopelvic Dysplasia 20
2568 BRN125 Branchiogenic-Deafness Syndrome 20
2569 c ADM008 Adams-Oliver Syndrome 3 20
2570 HYD053 Hydrocephalus with Associated Malformations 20
2571 ATK002 Atkin-Flaitz Syndrome 20
2572 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 20
2573 SND006 Sonoda Syndrome 20
2574 c FNC056 Fanconi Anemia, Complementation Group V 20
2575 c PRX043 Peroxisome Biogenesis Disorder 6b 20
2576 SPS192 Spastic Paraparesis and Deafness 20
2577 CRN076 Crane-Heise Syndrome 20
2578 c AML050 Amelogenesis Imperfecta, Type if 20
2579 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 20
2580 1Q4001 1q44 Microdeletion Syndrome 20
2581 CHR416 Chromosome 17q Deletion 20
2582 MLT148 Multiple Pterygium Syndrome, X-Linked 20
2583 c PRX066 Peroxisome Biogenesis Disorder 3b 19
2584 8P2002 8p23.1 Duplication Syndrome 19
2585 c DMN028 Diamond-Blackfan Anemia 12 19
2586 TBT001 Tabatznik Syndrome 19
2587 c AML018 Amelogenesis Imperfecta, Type Ic 19
2588 c PRX056 Peroxisome Biogenesis Disorder 11b 19
2589 c RTH005 Rothmund-Thomson Syndrome Type 2 19
2590 48X005 48,xyyy 19
2591 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 19
2592 c TRC071 Treacher Collins Syndrome 3 19
2593 c RNG006 Ring Chromosome 11 19
2594 ULN005 Ulna and Fibula, Hypoplasia of 19
2595 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 19
2596 CHR457 Chromosome 17p13.1 Deletion Syndrome 19
2597 HYP489 Hypotrichosis-Deafness Syndrome 19
2598 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 19
2599 c DMN022 Diamond-Blackfan Anemia 9 19
2600 16P004 16p13.11 Microduplication Syndrome 19
2601 DFF027 Diffuse Lymphatic Malformation 19
2602 FCC003 Faciocardiomelic Dysplasia, Lethal 19
2603 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 19
2604 c BRC035 Brachydactyly Type A5 19
2605 c MLG151 Malignant Hyperthermia 5 19
2606 c ORF027 Orofacial Cleft 11 19
2607 c FBR030 Fibrochondrogenesis 2 19
2608 CLB018 Coloboma of Eyelid 19
2609 48X002 48,xxxy Syndrome 19
2610 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
2611 TBL027 Tubulinopathy-Associated Dysgyria 19
2612 CHN040 Choanal Atresia and Lymphedema 19
2613 P PRX064 Peroxisome Biogenesis Disorder 2b 19
2614 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 19
2615 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 19
2616 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 19
2617 c HYD040 Hydrolethalus Syndrome 2 19
2618 49X005 49, Xxxyy Syndrome 19
2619 c ANX008 Anauxetic Dysplasia 2 19
2620 c CHR464 Chronic Intestinal Failure 19
2621 c ATS072 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 19
2622 THR033 Thoracomelic Dysplasia 19
2623 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 19
2624 HMR016 Humeroradioulnar Synostosis 19
2625 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 19
2626 MCR119 Microtia, Hearing Impairment, and Cleft Palate 19
2627 MTC100 Metacarpal 4-5 Fusion 19
2628 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 19
2629 DBL007 Double Outlet Left Ventricle 19
2630 BRC100 Brachydactyly, Combined B and E Types 19
2631 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 19
2632 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 19
2633 PCH004 Pachygyria, Frontotemporal 19
2634 BMR004 Beemer Lethal Malformation Syndrome 19
2635 c ZMM003 Zimmermann-Laband Syndrome 2 18
2636 CRT061 Cor Triatriatum Dexter 18
2637 c ORF048 Orofacial Cleft 1 18
2638 19P001 19p13.12 Microdeletion Syndrome 18
2639 ZCH002 Zechi-Ceide Syndrome 18
2640 DYS180 Dyschondrosteosis and Nephritis 18
2641 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 18
2642 c ANT087 Anterior Segment Dysgenesis 6 18
2643 LSS034 Lissencephaly Type Iii and Bone Dysplasia 18
2644 ISL067 Isolated Congenital Megalocornea 18
2645 c TRC073 Treacher Collins Syndrome 2 18
2646 c PRV016 Periventricular Nodular Heterotopia 6 18
2647 c ANT067 Anterior Segment Dysgenesis 8 18
2648 c ORF049 Orofacial Cleft 3 18
2649 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
2650 CHR182 Chromosome 10p Duplication 18
2651 SPN349 Spondylometaphyseal Dysplasia, Type A4 18
2652 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 18
2653 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 18
2654 OLG005 Oligodontia-Colorectal Cancer Syndrome 18
2655 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 18
2656 c ORF047 Orofacial Cleft 15 18
2657 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
2658 c MTR077 Mitral Valve Prolapse 2 18
2659 ADC008 Adactylia, Unilateral 18
2660 APH015 Aphalangy with Hemivertebrae 18
2661 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 18
2662 SPN353 Spondylometaphyseal Dysplasia, X-Linked 18
2663 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 18
2664 NNG002 Non-Gestational Ovarian Choriocarcinoma 18
2665 c WRD026 Waardenburg Syndrome, Type 2c 18
2666 CRB164 Cerebrooculonasal Syndrome 18
2667 c PNC105 Pancreatic Agenesis 2 18
2668 ACR039 Acromegaloid Hypertrichosis Syndrome 18
2669 EDN001 Edinburgh Malformation Syndrome 18
2670 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18
2671 c RNG019 Ring Chromosome 3 18
2672 c PRX089 Peroxisome Biogenesis Disorder 10b 18
2673 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 18
2674 DYS049 Dysplastic Cortical Hyperostosis 18
2675 P CHR200 Chromosome 16 Trisomy 18
2676 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 18
2677 HYP689 Hypomelia with Mullerian Duct Anomalies 18
2678 GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 18
2679 CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 18
2680 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 18
2681 PNH003 Pinheiro Freire-Maia Miranda Syndrome 18
2682 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 18
2683 CLB008 Coloboma of Eye Lens 18
2684 ISD002 Isodicentric Chromosome 15 Syndrome 18
2685 c PRX068 Peroxisome Biogenesis Disorder 7b 18
2686 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 18
2687 ANN018 Anonychia, Total, with Microcephaly 18
2688 c ORF050 Orofacial Cleft 2 17
2689 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 17
2690 PLY133 Polysyndactyly with Cardiac Malformation 17
2691 c RTH004 Rothmund-Thomson Syndrome Type 1 17
2692 c RNG025 Ring Chromosome 9 17
2693 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 17
2694 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
2695 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 17
2696 PRN057 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations 17
2697 CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 17
2698 c HYP517 Hypoplastic Left Heart Syndrome 2 17
2699 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 17
2700 OCL030 Oculoauriculofrontonasal Syndrome 17
2701 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 17
2702 PFF010 Pfeiffer-Palm-Teller Syndrome 17
2703 UNL014