Fetal Diseases Category (4152 diseases)


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

# Family MCID Name MIFTS
1 HYD038 Hydrops Fetalis, Nonimmune 49
2 HYD012 Hydrops Fetalis 51
3 P EMB005 Embryonal Rhabdomyosarcoma 55
4 MCR078 Microphthalmia Microtia Fetal Akinesia 17
5 FTL028 Fetal Retinoid Syndrome 15
6 VLP002 Valproate Embryopathy 47
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 27
12 IST007 Isotretinoin Embryopathy-Like Syndrome 24
13 IST006 Isotretinoin Syndrome 23
14 HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 37
15 NCH001 Nuchal Bleb, Familial 27
16 P PRM252 Preimplantation Embryonic Lethality 1 16
17 P OTS002 Otospondylomegaepiphyseal Dysplasia 44
18 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 43
19 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 41
20 EMB006 Embryonal Testis Carcinoma 34
21 c RHB023 Rhabdomyosarcoma, Embryonal, 1 27
22 CHL043 Childhood Embryonal Testis Carcinoma 9
23 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 22
24 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 13
25 P CNT003 Central Nervous System Embryonal Carcinoma 10
26 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 8
27 PRP094 Propylthiouracil Embryofetopathy 5
28 P FTL001 Fetal Alcohol Syndrome 59
29 PRS030 Persistent Fetal Circulation Syndrome 43
30 P PNT019 Pontocerebellar Hypoplasia 41
31 c PNT034 Pontocerebellar Hypoplasia, Type 2e 40
32 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
33 OVR050 Ovarian Embryonal Carcinoma 40
34 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
35 c PNT018 Pontocerebellar Hypoplasia, Type 1b 37
36 c PNT010 Pontocerebellar Hypoplasia Type 1 35
37 c PNT045 Pontocerebellar Hypoplasia, Type 1a 33
38 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
39 c PNT044 Pontocerebellar Hypoplasia, Type 2a 31
40 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
41 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
42 c PNT043 Pontocerebellar Hypoplasia, Type 4 30
43 c PNT032 Pontocerebellar Hypoplasia, Type 9 29
44 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
45 GRM001 Germ Cell and Embryonal Cancer 27
46 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
47 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
48 c PNT048 Pontocerebellar Hypoplasia, Type 2c 24
49 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
50 c PNT050 Pontocerebellar Hypoplasia, Type 11 23
51 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
52 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
53 CHL026 Childhood Ovarian Embryonal Carcinoma 9
54 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
55 FTL004 Fetal Erythroblastosis 37
56 ACT206 Acitretin/etretinate Embryopathy 17
57 AMN013 Aminopterin/methotrexate Embryofetopathy 17
58 FTL066 Fetal Akinesia Syndrome, X-Linked 14
59 c ADL007 Adult Central Nervous System Embryonal Carcinoma 7
60 P TXP001 Toxoplasmosis 64
61 c CNG021 Congenital Toxoplasmosis 57
62 CCN007 Cocoon Syndrome 40
63 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
64 FTL029 Fetal Thalidomide Syndrome 30
65 INT041 Intratubular Embryonal Carcinoma 27
66 c RHB021 Rhabdomyosarcoma, Embryonal, 2 16
67 c PRM251 Preimplantation Embryonic Lethality 2 12
68 P CTR002 Cataract 60
69 c CTR130 Cataract 9, Multiple Types 41
70 c CTR115 Cataract 16, Multiple Types 38
71 c CTR118 Cataract 14, Multiple Types 37
72 c CTR129 Cataract 31, Multiple Types 36
73 c CTR170 Cataract 30, Multiple Types 36
74 c CTR098 Cataract 1, Multiple Types 35
75 c CTR141 Cataract 21, Multiple Types 33
76 c CTR122 Cataract 5, Multiple Types 32
77 c CTR125 Cataract 7 31
78 c CTR145 Cataract 44 31
79 c CTR103 Cataract 4, Multiple Types 31
80 c CTR158 Cataract 37 31
81 c CTR095 Cataract 8, Multiple Types 29
82 c CTR096 Cataract 6, Multiple Types 29
83 FTL062 Fetal Iodine Deficiency Disorder 29
84 c CTR102 Cataract 2, Multiple Types 28
85 c CTR175 Cataract 24 28
86 c CTR132 Cataract 3, Multiple Types 28
87 c CTR121 Cataract 25 28
88 c CTR174 Cataract 40 27
89 c CTR124 Cataract 10, Multiple Types 27
90 c CTR113 Cataract 11, Multiple Types 25
91 FTL016 Fetal Edema 25
92 c CTR169 Cataract 29 25
93 c CTR166 Cataract 33, Multiple Types 22
94 c CTR131 Cataract 17, Multiple Types 22
95 c CTR181 Cataract 18 22
96 c CTR180 Cataract 22, Multiple Types 22
97 c CTR184 Cataract 39, Multiple Types 22
98 c CTR162 Cataract 47 21
99 c CTR119 Cataract 32, Multiple Types 21
100 c CTR105 Cataract 12, Multiple Types 21
101 c CTR165 Cataract 19, Multiple Types 20
102 c CTR159 Cataract 35 20
103 c CTR182 Cataract 23, Multiple Types 20
104 c CTR116 Cataract 15, Multiple Types 20
105 c CTR183 Cataract 38 20
106 c CTR136 Cataract 41 20
107 c CTR097 Cataract 34, Multiple Types 20
108 c CTR111 Cataract 36 20
109 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 19
110 c CTR163 Cataract 46, Juvenile-Onset 19
111 c CTR139 Cataract 42 18
112 c CTR178 Cataract 27 18
113 c CTR157 Cataract 28 18
114 PRS010 Prostate Embryonal Rhabdomyosarcoma 18
115 c CTR110 Cataract 26, Multiple Types 18
116 c CTR106 Cataract 20, Multiple Types 18
117 c CTR144 Cataract 43 18
118 c CTR185 Cataract 30 17
119 c CTR160 Cataract 45 17
120 MYC060 Mycophenolate Mofetil Embryopathy 17
121 ORB002 Orbit Embryonal Rhabdomyosarcoma 17
122 CCN010 Cocaine Embryofetopathy 16
123 c CTR128 Cataract 33 14
124 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 14
125 c CTR025 Cataract, Total Congenital 13
126 c CTR008 Cataract Congenital Autosomal Dominant 7
127 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
128 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 6
129 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 6
130 PDT006 Pediatric Cns Embryonal Cell Carcinoma 6
131 HYD027 Hydrops Fetalis Anemia Immune Disorder Absent Thumb 3
132 HRP013 Herpetic Embryopathy 2
133 VTM006 Vitamin a Embryopathy 2
134 c RBN009 Robinow Syndrome, Autosomal Recessive 44
135 P PRS062 Persistent Hyperplastic Primary Vitreous 40
136 c RBN018 Robinow Syndrome, Autosomal Dominant 1 39
137 c RBN017 Robinow Syndrome, Autosomal Dominant 2 37
138 ALC001 Alcohol-Related Birth Defect 32
139 c RBN020 Robinow Syndrome, Autosomal Dominant 3 27
140 c RBN010 Robinow-Like Syndrome 15
141 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 9
142 EMB002 Embryoma 32
143 PRT001 Partial Fetal Alcohol Syndrome 23
144 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 17
145 FTL058 Fetal Trimethadione Syndrome 17
146 FTL026 Fetal Parvovirus Syndrome 16
147 P MCK013 Meckel Syndrome, Type 1 59
148 FTL021 Fetal Macrosomia 46
149 c LTH008 Lethal Congenital Contracture Syndrome 2 46
150 c ATS082 Autosomal Dominant Robinow Syndrome 45
151 c LTH007 Lethal Congenital Contracture Syndrome 1 38
152 c MCK033 Meckel Syndrome, Type 4 31
153 c MCK012 Meckel Syndrome, Type 6 30
154 c MCK030 Meckel Syndrome, Type 7 30
155 P LTH003 Lethal Congenital Contracture Syndrome 27
156 c LTH027 Lethal Congenital Contracture Syndrome 5 26
157 c MCK032 Meckel Syndrome, Type 3 26
158 c MCK031 Meckel Syndrome, Type 2 23
159 c LTH031 Lethal Congenital Contracture Syndrome 6 23
160 c MCK034 Meckel Syndrome, Type 8 23
161 PRX085 Preaxial Hallucal Polydactyly 23
162 c LTH047 Lethal Congenital Contracture Syndrome 3 22
163 c LTH039 Lethal Congenital Contracture Syndrome 11 22
164 c MCK014 Meckel Syndrome, Type 5 22
165 c MCK035 Meckel Syndrome, Type 10 22
166 c MCK026 Meckel Syndrome 12 22
167 c LTH029 Lethal Congenital Contracture Syndrome 9 21
168 c LTH030 Lethal Congenital Contracture Syndrome 8 21
169 FTL005 Fetal Adenoma 21
170 c LTH032 Lethal Congenital Contracture Syndrome 7 20
171 c MCK036 Meckel Syndrome, Type 9 20
172 c LTH026 Lethal Congenital Contracture Syndrome 4 20
173 c MCK028 Meckel Syndrome 13 20
174 c MCK020 Meckel Syndrome, Type 11 19
175 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 17
176 PRV001 Parovarian Cyst 16
177 c SPR105 Sporadic Fetal Brain Disruption Sequence 14
178 FTL044 Fetal Cytomegalovirus Syndrome 14
179 CHL030 Childhood Botryoid Rhabdomyosarcoma 13
180 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 12
181 EMB014 Embryonary Disorganization Syndrome 12
182 FTL048 Fetal Lung Interstitial Tumor 12
183 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 10
184 THY113 Thymic Aplasia with Fetal Death 9
185 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 8
186 c RR2001 Ror2-Related Robinow Syndrome 7
187 FTL020 Fetal Left Ventricular Aneurysm 7
188 FTL049 Fetal Carbamazepine Syndrome 5
189 MXD015 Mixed Type Rhabdomyosarcoma 5
190 LSS032 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome 5
191 FTL063 Fetal Nicotine Spectrum Disorder 3
192 SMT021 Somatomedin, Embryonic 3
193 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 2
194 FTL027 Fetal Phenothiazine Syndrome 2
195 KPS004 Kaposi Sarcoma 73
196 P HYD006 Hydrocephalus 69
197 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
198 P CRN037 Craniosynostosis 67
199 P CTS001 Cutis Laxa 62
200 c ART115 Aortic Valve Disease 1 61
201 P ANG001 Angelman Syndrome 61
202 P EHL001 Ehlers-Danlos Syndrome 60
203 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
204 c SPN294 Spinocerebellar Ataxia 1 58
205 P PLY006 Polydactyly 57
206 P MCR010 Microcephaly 57
207 ANG020 Angiosarcoma 56
208 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 56
209 P DST002 Distal Arthrogryposis 56
210 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 56
211 P SPN301 Spinocerebellar Ataxia 2 56
212 P SMP003 Simpson-Golabi-Behmel Syndrome 55
213 c CWD006 Cowden Syndrome 1 55
214 P MGL013 Megalencephaly 54
215 P INF016 Infantile Epileptic Encephalopathy 54
216 c SPN291 Spinocerebellar Ataxia 7 53
217 CLF004 Cleft Lip/palate 53
218 OLG003 Oligohydramnios 53
219 RTN209 Retinoschisis 1, X-Linked, Juvenile 53
220 P MLT007 Multiple Epiphyseal Dysplasia 53
221 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
222 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 52
223 NWB001 Newborn Respiratory Distress Syndrome 52
224 CHR005 Chorioamnionitis 51
225 P OMP004 Omphalocele 51
226 P SYP003 Syphilis 51
227 NNT012 Neonatal Jaundice 51
228 P BRC006 Brachydactyly 50
229 PLC007 Placental Abruption 50
230 P SYR001 Syringomyelia 50
231 HNN001 Hennekam Syndrome 50
232 c SPN309 Spinocerebellar Ataxia 6 49
233 c HYP292 Hypophosphatasia, Infantile 49
234 P PRS049 Persistent Mullerian Duct Syndrome 49
235 c HYP293 Hypophosphatasia, Adult 49
236 P EPT020 Epithelioid Hemangioendothelioma 49
237 HMF009 Hemifacial Hyperplasia 49
238 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
239 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 48
240 c SPN293 Spinocerebellar Ataxia 12 48
241 P LSS002 Lissencephaly 48
242 P NNT009 Neonatal Diabetes Mellitus 48
243 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
244 c TRC092 Trichorhinophalangeal Syndrome, Type I 47
245 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
246 PLY012 Polyhydramnios 47
247 c SPN314 Spinocerebellar Ataxia 10 47
248 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
249 c OPT051 Opitz Gbbb Syndrome, Type I 47
250 c MCR256 Microphthalmia, Syndromic 9 46
251 P CRN074 Coronary Artery Aneurysm 46
252 P KLF001 Kleefstra Syndrome 46
253 c EHL033 Ehlers-Danlos Syndrome, Classic Type 46
254 P VSC013 Visceral Heterotaxy 46
255 c SPN312 Spinocerebellar Ataxia 14 46
256 c SPN296 Spinocerebellar Ataxia 17 46
257 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
258 c USH021 Usher Syndrome, Type Iid 46
259 P ENC008 Encephalocele 46
260 HYP347 Hypotonia-Cystinuria Syndrome 46
261 P ART084 Arteriovenous Fistula 45
262 P RDL002 Radioulnar Synostosis 45
263 c USH035 Usher Syndrome Type 2 45
264 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
265 c SPN100 Spinocerebellar Ataxia 27 45
266 c LKD010 Leukodystrophy, Hypomyelinating, 2 45
267 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 45
268 PLC001 Placenta Accreta 45
269 MCR165 Microphthalmia with Limb Anomalies 45
270 VTR016 Vater/vacterl Association 45
271 CHN065 Choanal Atresia, Posterior 44
272 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 44
273 c ART144 Arthrogryposis, Distal, Type 1a 44
274 c USH037 Usher Syndrome, Type Iia 44
275 c SPN311 Spinocerebellar Ataxia 13 44
276 c MCP047 Mucopolysaccharidosis, Type Iva 44
277 c LKD015 Leukodystrophy, Hypomyelinating, 3 44
278 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 43
279 MRG013 Mirage Syndrome 43
280 c SPN305 Spinocerebellar Ataxia 11 43
281 HRT030 Hartsfield Syndrome 43
282 P DNR001 Duane Retraction Syndrome 43
283 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 43
284 WRS002 Warsaw Breakage Syndrome 43
285 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 42
286 ANM001 Anemia of Prematurity 42
287 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 42
288 P ART018 Aortic Valve Insufficiency 42
289 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42
290 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
291 c SPN265 Spinocerebellar Ataxia 36 42
292 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
293 c ATS275 Autosomal Recessive Primary Microcephaly 42
294 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 41
295 PLL008 Pallister-Killian Syndrome 41
296 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 41
297 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 41
298 c LKD019 Leukodystrophy, Hypomyelinating, 6 41
299 c OPT050 Opitz Gbbb Syndrome, Type Ii 41
300 P JVN008 Juvenile Glaucoma 41
301 c USH040 Usher Syndrome, Type Id 41
302 P MNN007 Meningocele 41
303 c USH039 Usher Syndrome, Type Ic 41
304 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
305 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41
306 c PRN053 Porencephaly 1 41
307 ART002 Arts Syndrome 41
308 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
309 DND001 Dandy-Walker Syndrome 40
310 c SCN006 Secondary Syphilis 40
311 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
312 c SPN290 Spinocerebellar Ataxia 15 40
313 c CNG033 Congenital Syphilis 40
314 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
315 c SPN103 Spinocerebellar Ataxia 31 40
316 EPS026 Epispadias 40
317 c SPN106 Spinocerebellar Ataxia 5 40
318 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
319 MCR103 Microtia 40
320 c USH020 Usher Syndrome, Type Iic 40
321 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
322 c MCR261 Microphthalmia, Syndromic 2 39
323 c SPN308 Spinocerebellar Ataxia 28 39
324 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 39
325 P HRD086 Hereditary Hypophosphatemic Rickets 39
326 P ATR031 Atrial Septal Defect 4 39
327 c CRN278 Craniosynostosis 1 39
328 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 38
329 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
330 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 38
331 P CRC039 Coarctation of Aorta 38
332 c SPN304 Spinocerebellar Ataxia 8 38
333 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 38
334 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 38
335 VNM003 Van Maldergem Syndrome 1 38
336 c LKD009 Leukodystrophy, Hypomyelinating, 5 38
337 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
338 SML028 Semilobar Holoprosencephaly 37
339 CHR667 Chromosome 3pter-P25 Deletion Syndrome 37
340 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 37
341 P PRT042 Parietal Foramina 37
342 c MNS014 Monosomy 22 37
343 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 37
344 c SPN097 Spinocerebellar Ataxia 23 37
345 P LSS024 Lissencephaly with Cerebellar Hypoplasia 37
346 ALB014 Alobar Holoprosencephaly 36
347 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
348 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
349 c PRM032 Primary Congenital Glaucoma 36
350 MND025 Mandibulofacial Dysostosis with Alopecia 36
351 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
352 c USH042 Usher Syndrome, Type Ig 36
353 c SPN299 Spinocerebellar Ataxia 20 36
354 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 36
355 PLM013 Pulmonary Immaturity 36
356 P DXT004 Dextro-Looped Transposition of the Great Arteries 36
357 c MCP051 Mucopolysaccharidosis, Type Ix 36
358 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 36
359 c USH041 Usher Syndrome, Type if 36
360 c KNB006 Knobloch Syndrome 1 36
361 c SPN094 Spinocerebellar Ataxia 18 36
362 P CMM008 Communicating Hydrocephalus 35
363 OGD001 Ogden Syndrome 35
364 LBR025 Lobar Holoprosencephaly 35
365 c GLC083 Glaucoma 3, Primary Infantile, B 35
366 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 35
367 c ATS076 Autosomal Recessive Stickler Syndrome 35
368 DGT009 Digitotalar Dysmorphism 35
369 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
370 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
371 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
372 OHD005 Ohdo Syndrome, Sbbys Variant 34
373 c DNR003 Duane Retraction Syndrome 1 34
374 MCR173 Microform Holoprosencephaly 34
375 CHR387 Chromosome Xp21 Deletion Syndrome 34
376 P MXD016 Mixed Gonadal Dysgenesis 34
377 P GLP001 Geleophysic Dysplasia 34
378 c MCL016 Mucolipidosis Iii Gamma 34
379 CHR501 Chromosome 17q12 Deletion Syndrome 34
380 TRM011 Terminal Osseous Dysplasia 34
381 CHR382 Chromosome 18q Deletion Syndrome 34
382 c CNG379 Congenital Disorder of Glycosylation, Type It 34
383 SPN331 Spondyloocular Syndrome 33
384 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 33
385 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 33
386 c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 33
387 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 33
388 NNT004 Neonatal Respiratory Failure 33
389 c GLP003 Geleophysic Dysplasia 1 33
390 PLM151 Pulmonary Arteriovenous Fistulas 33
391 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
392 BRC004 Brachydactyly-Syndactyly Syndrome 33
393 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
394 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 33
395 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33
396 CHR377 Chromosome 10q26 Deletion Syndrome 33
397 PLC009 Placenta Praevia 33
398 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32
399 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
400 c MTR051 Maternal Uniparental Disomy of Chromosome 1 32
401 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
402 c SPN266 Spinocerebellar Ataxia 35 32
403 P KNB001 Knobloch Syndrome 32
404 NNT005 Neonatal Candidiasis 32
405 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 32
406 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 32
407 c SPN101 Spinocerebellar Ataxia 29 32
408 DST008 Diastematomyelia 32
409 P OMD003 Omodysplasia 32
410 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32
411 ISL062 Isolated Plagiocephaly 32
412 c SPN105 Spinocerebellar Ataxia 4 31
413 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
414 c SPN095 Spinocerebellar Ataxia 19 31
415 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 31
416 c GLP004 Geleophysic Dysplasia 2 31
417 c WLL036 Weill-Marchesani Syndrome 1 31
418 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31
419 OSC001 Oeis Complex 31
420 c PRM022 Primary Syphilis 31
421 P ACR093 Acrofrontofacionasal Dysostosis 31
422 c OVR075 Ovarian Dysgenesis 1 31
423 P HYP700 Hypomyelinating Leukodystrophy 31
424 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 31
425 SPT016 Septopreoptic Holoprosencephaly 31
426 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
427 c SPN099 Spinocerebellar Ataxia 26 31
428 c ATR022 Atrial Septal Defect 3 30
429 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 30
430 c LSS010 Lissencephaly 4 30
431 c KLF004 Kleefstra Syndrome 1 30
432 MCR099 Microlissencephaly 30
433 c ATR066 Atrial Septal Defect 2 30
434 SPN012 Spindle Cell Hemangioma 30
435 ALG027 Al-Gazali-Bakalinova Syndrome 30
436 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
437 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
438 THR017 Thoracoabdominal Syndrome 30
439 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30
440 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
441 c SPN096 Spinocerebellar Ataxia 21 30
442 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
443 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
444 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
445 NRN022 Neurenteric Cyst 30
446 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
447 CRN264 Craniosynostosis with Fibular Aplasia 30
448 GLM012 Glomuvenous Malformations 30
449 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
450 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 30
451 c SCK009 Seckel Syndrome 1 30
452 c CNG188 Congenital Disorder of Glycosylation, Type if 30
453 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
454 c SPN104 Spinocerebellar Ataxia 34 29
455 P BRC003 Brachyolmia 29
456 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 29
457 MCR183 Microcephaly-Capillary Malformation Syndrome 29
458 c WLL037 Weill-Marchesani Syndrome 2 29
459 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 29
460 ISL121 Isolated Split Hand-Split Foot Malformation 29
461 MCR096 Macrocephaly/autism Syndrome 29
462 ISL109 Isolated Cleft Lip 29
463 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 29
464 c ACQ027 Acquired Cutis Laxa 29
465 VND005 Van Den Ende-Gupta Syndrome 29
466 GLS018 Glass Syndrome 29
467 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
468 PRP093 Pierpont Syndrome 29
469 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 29
470 c SCK011 Seckel Syndrome 5 29
471 UNV002 Univentricular Heart 29
472 c RBN008 Rubinstein-Taybi Syndrome 2 29
473 WTT002 Witteveen-Kolk Syndrome 29
474 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
475 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
476 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 28
477 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
478 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 28
479 INT276 Interatrial Communication 28
480 c USH031 Usher Syndrome, Type Ij 28
481 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 28
482 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
483 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
484 HYP674 Hyperostosis Cranialis Interna 28
485 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28
486 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28
487 LRY022 Laryngoonychocutaneous Syndrome 28
488 OCC011 Occipital Encephalocele 28
489 BRN133 Bronchomalacia 28
490 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
491 c CRN277 Craniosynostosis 2 28
492 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28
493 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 28
494 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 28
495 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 28
496 HYP679 Hypoglossia-Hypodactylia 28
497 SCR035 Sacral Agenesis with Vertebral Anomalies 28
498 c SYN084 Synpolydactyly 1 28
499 UVL009 Uvula, Bifid 28
500 c SCK010 Seckel Syndrome 4 28
501 ISL096 Isolated Klippel-Feil Syndrome 28
502 c USH030 Usher Syndrome, Type Ik 28
503 P TRS029 Trisomy 1q 27
504 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
505 c SPN383 Spinocerebellar Ataxia 42 27
506 c ERL012 Early-Onset Glaucoma 27
507 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
508 c HTR021 Heterotaxy, Visceral, 5, Autosomal 27
509 RHM015 Rhombencephalosynapsis 27
510 ALZ030 Alazami Syndrome 27
511 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 27
512 MLL011 Mullerian Aplasia and Hyperandrogenism 27
513 c SPN098 Spinocerebellar Ataxia 25 27
514 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 27
515 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 27
516 TRC007 Tricuspid Valve Prolapse 27
517 CNS013 Constricting Bands, Congenital 27
518 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
519 TTT001 Tatton-Brown-Rahman Syndrome 27
520 CRB147 Cerebellofaciodental Syndrome 27
521 c SPN247 Spinocerebellar Ataxia Type 19/22 27
522 c SPN283 Spinocerebellar Ataxia 37 27
523 CLF028 Cleft Soft Palate 27
524 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
525 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
526 PRM206 Premature Aging Syndrome, Penttinen Type 27
527 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
528 TTR014 Tetrasomy 18p 27
529 c SPN284 Spinocerebellar Ataxia 38 27
530 STL007 Steel Syndrome 26
531 TKN001 Takenouchi-Kosaki Syndrome 26
532 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
533 c ART104 Arthrogryposis, Distal, Type 5d 26
534 CHR399 Chromosome 4q21 Deletion Syndrome 26
535 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
536 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26
537 c MCR252 Microphthalmia, Syndromic 5 26
538 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
539 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26
540 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
541 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 26
542 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 26
543 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
544 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
545 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 26
546 ISL011 Isolated Aniridia 26
547 c BRC062 Brachydactyly, Type D 26
548 c USH044 Usher Syndrome, Type Iiib 26
549 c TRS012 Trisomy 22 26
550 c SPN372 Spinocerebellar Ataxia 43 26
551 ISL061 Isolated Brachycephaly 26
552 P ART034 Aortopulmonary Window 26
553 P SCL047 Sclerocornea 26
554 c HTR009 Heterotaxy, Visceral, 2, Autosomal 26
555 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
556 c LKD020 Leukodystrophy, Hypomyelinating, 10 26
557 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
558 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
559 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
560 ISL089 Isolated Scaphocephaly 26
561 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
562 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
563 c BSL030 Basal Encephalocele 25
564 CRN049 Craniolenticulosutural Dysplasia 25
565 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
566 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
567 c LKD022 Leukodystrophy, Hypomyelinating, 13 25
568 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
569 P PRD037 Periodontal Ehlers-Danlos Syndrome 25
570 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
571 WLL012 Williams-Beuren Region Duplication Syndrome 25
572 ATR055 Atrial Septal Aneurysm 25
573 c CRN217 Craniosynostosis 3 25
574 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 25
575 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
576 DGT002 Digital Clubbing, Isolated Congenital 25
577 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25
578 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
579 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 25
580 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
581 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 25
582 P NNT006 Neonatal Myasthenia Gravis 25
583 CRL006 Caroli Disease, Isolated 25
584 c PRT059 Parietal Foramina 1 25
585 TTR027 Tetrasomy 15q26 25
586 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 25
587 c MCR212 Microphthalmia, Syndromic 12 25
588 LBN004 Liebenberg Syndrome 25
589 P FRN033 Frontonasal Dysplasia 2 25
590 ANG062 Angioosteohypertrophic Syndrome 25
591 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
592 PNL023 Penile Agenesis 25
593 CLF049 Cleft Lip and Alveolus 25
594 c CRN281 Craniosynostosis 7 25
595 SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 25
596 PLY110 Polymicrogyria, Bilateral Temporooccipital 25
597 c LTC001 Late Congenital Syphilis 25
598 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
599 c PRT060 Parietal Foramina 2 25
600 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
601 CHR366 Chromosome 5p13 Duplication Syndrome 25
602 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 24
603 P KNN002 Kenny-Caffey Syndrome 24
604 RGH006 Right Aortic Arch 24
605 PHK008 Phakomatosis Cesioflammea 24
606 CHR379 Chromosome 15q26-Qter Deletion Syndrome 24
607 TTR019 Tetrasomy 5p 24
608 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 24
609 MYL044 Myelocystocele 24
610 P PLM064 Pulmonary Sequestration 24
611 c ART122 Arthrogryposis, Distal, Type 8 24
612 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
613 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 24
614 c LKD016 Leukodystrophy, Hypomyelinating, 9 24
615 c ACR103 Acrofrontofacionasal Dysostosis 1 24
616 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 24
617 P SPN237 Spina Bifida Aperta 24
618 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 24
619 c CWD008 Cowden Syndrome 6 24
620 UTR054 Uterine Hypoplasia 24
621 CRN266 Craniofacial Dyssynostosis with Short Stature 24
622 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 24
623 PRT101 Poretti-Boltshauser Syndrome 24
624 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
625 LMB069 Lamb-Shaffer Syndrome 24
626 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
627 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
628 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
629 c SCK015 Seckel Syndrome 2 24
630 c WLL038 Weill-Marchesani Syndrome 3 24
631 CRS011 Criss-Cross Heart 24
632 FNT003 Fountain Syndrome 24
633 c ERL002 Early Congenital Syphilis 24
634 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
635 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
636 c SPN286 Spinocerebellar Ataxia 40 24
637 c CWD004 Cowden Syndrome 5 24
638 c MCR228 Microphthalmia, Syndromic 13 23
639 c STS007 Sotos Syndrome 2 23
640 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
641 P OVR076 Ovarian Dysgenesis 2 23
642 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 23
643 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23
644 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 23
645 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 23
646 c FRN037 Frontal Encephalocele 23
647 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 23
648 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
649 PTL010 Patella Aplasia-Hypoplasia 23
650 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23
651 c WLL040 Weill-Marchesani Syndrome 4 23
652 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 23
653 ASS004 Aase-Smith Syndrome I 23
654 c LKD023 Leukodystrophy, Hypomyelinating, 12 23
655 c ATR062 Atrial Septal Defect 1 23
656 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 23
657 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
658 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
659 c LKD021 Leukodystrophy, Hypomyelinating, 11 23
660 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 23
661 CHR487 Chromosome 8q21.11 Deletion Syndrome 23
662 P PTR018 Paternal Uniparental Disomy of Chromosome 6 23
663 c SPN323 Spinocerebellar Ataxia 41 23
664 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 23
665 c ATR023 Atrial Septal Defect 5 23
666 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23
667 P TRC031 Trichorhinophalangeal Syndrome 23
668 HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 23
669 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
670 MCR310 Microgastria-Limb Reduction Defects Association 23
671 c SCK029 Seckel Syndrome 7 23
672 TRG019 Trigonocephaly with Short Stature and Developmental Delay 23
673 DSN002 Desanto-Shinawi Syndrome 23
674 c BRC060 Brachydactyly, Type E2 23
675 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
676 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
677 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 22
678 ATY022 Atypical Coarctation of Aorta 22
679 c MLG145 Malignant Epithelioid Hemangioendothelioma 22
680 c CWD007 Cowden Syndrome 3 22
681 P ACR072 Acrorenal Syndrome 22
682 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 22
683 ACR101 Acrocraniofacial Dysostosis 22
684 ULN023 Ulnar Hypoplasia 22
685 c CRN216 Craniosynostosis 5 22
686 c BRC108 Brachydactyly, Type A3 22
687 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 22
688 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 22
689 c BRC052 Brachydactyly, Type B2 22
690 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 22
691 BRN129 Branchial Cleft Anomalies 22
692 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 22
693 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 22
694 DPR014 Diprosopus 22
695 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
696 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 22
697 MLR023 Melorheostosis, Isolated 22
698 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 22
699 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
700 ADD006 Adducted Thumbs Syndrome 22
701 c HTR010 Heterotaxy, Visceral, 4, Autosomal 22
702 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
703 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 22
704 c LSS009 Lissencephaly 3 22
705 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
706 c FNG009 Feingold Syndrome 2 22
707 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 22
708 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
709 c BRC080 Brachydactyly, Type A1, B 22
710 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 22
711 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 22
712 c MCR217 Microphthalmia, Syndromic 11 22
713 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 22
714 P ACR020 Acropectorovertebral Dysplasia 22
715 c SCK038 Seckel Syndrome 10 22
716 c CNG514 Congenital Radioulnar Synostosis 22
717 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 22
718 CHR502 Chromosome 17q12 Duplication Syndrome 22
719 c ART131 Arthrogryposis, Distal, Type 4 22
720 c FRN032 Frontonasal Dysplasia 3 22
721 c MNS008 Monosomy 21 22
722 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 22
723 c HTR018 Heterotaxy, Visceral, 7, Autosomal 21
724 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
725 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
726 c EPP012 Epiphyseal Dysplasia, Multiple, 2 21
727 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 21
728 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 21
729 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 21
730 MSL005 Mseleni Joint Disease 21
731 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 21
732 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21
733 c SPN259 Spinocerebellar Ataxia 32 21
734 LTH011 Lethal Arthrogryposis with Anterior Horn Cell Disease 21
735 c SCN048 Secondary Syringomyelia 21
736 MSC089 Mosaic Monosomy X 21
737 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 21
738 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 21
739 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
740 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
741 ISL087 Isolated Oxycephaly 21
742 YNH001 Yuan-Harel-Lupski Syndrome 21
743 P MNS011 Monosomy 9q22.3 21
744 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 21
745 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
746 MNS012 Monostotic Fibrous Dysplasia 21
747 FCL047 Facial Clefting, Oblique, 1 21
748 c LSS035 Lissencephaly 8 21
749 c BRC075 Brachydactyly, Type A1, C 21
750 c EPP015 Epiphyseal Dysplasia, Multiple, 3 21
751 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
752 CHR483 Chromosome 3q13.31 Deletion Syndrome 21
753 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
754 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
755 c BRC105 Brachydactyly, Type A1, D 21
756 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 21
757 c CRN256 Craniosynostosis 6 21
758 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
759 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 21
760 P ERL043 Early-Onset Nuclear Cataract 21
761 c SPN420 Spinocerebellar Ataxia 46 21
762 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 21
763 c SCK033 Seckel Syndrome 8 21
764 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
765 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 21
766 CRN200 Craniosynostosis and Dental Anomalies 21
767 DYS134 Dysspondyloenchondromatosis 21
768 c EHL065 Ehlers-Danlos Syndrome, Type V 21
769 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
770 c APR009 Aprosencephaly Syndrome 21
771 c CTS031 Cutis Laxa, Autosomal Dominant 2 21
772 PLV015 Pelvis-Shoulder Dysplasia 21
773 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
774 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 21
775 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
776 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21
777 c SCK037 Seckel Syndrome 9 20
778 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
779 c CTR176 Cataract, Age-Related Nuclear 20
780 c SPN419 Spinocerebellar Ataxia 45 20
781 ISL084 Isolated Trigonocephaly 20
782 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 20
783 CRV063 Cervical Spina Bifida Aperta 20
784 HRR005 Harrod Syndrome 20
785 MYP038 Myopathy, Congenital, Compton-North 20
786 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 20
787 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 20
788 EPP011 Epiphyseal Chondrodysplasia, Miura Type 20
789 MCR353 Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome 20
790 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
791 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 20
792 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 20
793 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 20
794 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
795 c BRC053 Brachyolmia Type 2 20
796 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 20
797 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
798 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 20
799 2Q3005 2q31.1 Microdeletion Syndrome 20
800 PRP101 Peripheral Pulmonary Stenosis 20
801 STP011 Stapes Ankylosis with Broad Thumbs and Toes 20
802 c ATR034 Atrial Septal Defect 6 20
803 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
804 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 20
805 c SYN088 Synpolydactyly 2 20
806 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
807 c CWD009 Cowden Syndrome 7 20
808 c STC012 Stickler Syndrome, Type Iv 20
809 c SPN418 Spinocerebellar Ataxia 44 20
810 VCT008 Vacterl with Hydrocephalus 20
811 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 20
812 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 20
813 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
814 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
815 CHR393 Chromosome 19p13.13 Deletion Syndrome 20
816 NTH002 Nathalie Syndrome 20
817 c ART060 Arthrogryposis, Distal, Type 1b 20
818 c EPP009 Epiphyseal Dysplasia, Multiple, 6 20
819 c SPN102 Spinocerebellar Ataxia 30 20
820 6QT002 6q Terminal Deletion Syndrome 20
821 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 20
822 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 20
823 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
824 LVC002 Levocardia 20
825 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 20
826 c GLC054 Glaucoma 3, Primary Congenital, D 20
827 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 20
828 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 20
829 VGN031 Vaginal Atresia 20
830 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 20
831 CRV062 Cervical Spina Bifida Cystica 20
832 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
833 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
834 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
835 LMB056 Lumbosacral Spina Bifida Cystica 20
836 OCL057 Oculotrichodysplasia 20
837 DST059 Distal Trisomy 17q 20
838 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 20
839 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 20
840 c MCR312 Microphthalmia, Syndromic 10 20
841 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
842 c OVR107 Ovarian Dysgenesis 4 19
843 RFM002 Roifman-Chitayat Syndrome 19
844 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 19
845 RDL022 Radial Hemimelia 19
846 c HTR023 Heterotaxy, Visceral, 6, Autosomal 19
847 EHL064 Ehlers-Danlos Syndrome, Arthrochalasis Type 19
848 CRT069 Cortical Malformations, Occipital 19
849 GRM003 German Syndrome 19
850 THY105 Thyrocerebroretinal Syndrome 19
851 CHR612 Chromosome 15q14 Deletion Syndrome 19
852 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 19
853 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 19
854 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 19
855 c DNR004 Duane Retraction Syndrome 2 19
856 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
857 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 19
858 CRN197 Coronary Arterial Fistulas 19
859 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 19
860 MSM018 Mesomelic Limb Shortening and Bowing 19
861 c STC011 Stickler Syndrome, Type V 19
862 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 19
863 c PRN047 Porencephaly 2 19
864 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 19
865 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
866 CHR362 Chromosome 17q21.31 Duplication Syndrome 19
867 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
868 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 19
869 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 19
870 c TTL009 Total Spina Bifida Aperta 19
871 THR085 Thoracolumbosacral Spina Bifida Aperta 19
872 LMB057 Lumbosacral Spina Bifida Aperta 19
873 CRV064 Cervicothoracic Spina Bifida Aperta 19
874 UPP008 Upper Thoracic Spina Bifida Aperta 19
875 TTL008 Total Spina Bifida Cystica 19
876 THR084 Thoracolumbosacral Spina Bifida Cystica 19
877 CRV061 Cervicothoracic Spina Bifida Cystica 19
878 UPP007 Upper Thoracic Spina Bifida Cystica 19
879 TTR018 Tetragametic Chimerism 19
880 MCR307 Microspherophakia-Metaphyseal Dysplasia 19
881 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
882 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 19
883 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
884 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 19
885 FCL064 Facial Dysmorphism with Multiple Malformations 19
886 c SPN107 Spinocerebellar Ataxia 9 19
887 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 19
888 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 19
889 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 19
890 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19
891 MSC081 Mosaic Trisomy 15 19
892 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 19
893 c CWD003 Cowden Syndrome 2 19
894 c CWD005 Cowden Syndrome 4 19
895 CRN224 Craniofaciofrontodigital Syndrome 19
896 DST044 Distal Trisomy 14q 19
897 c FCL056 Facial Paresis, Hereditary Congenital, 3 19
898 CLF047 Cleft-Limb-Heart Malformation Syndrome 18
899 8PN001 8p Inverted Duplication/deletion Syndrome 18
900 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 18
901 OPH014 Ophthalmomandibulomelic Dysplasia 18
902 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 18
903 c HTR020 Heterotaxy, Visceral, 8, Autosomal 18
904 SPR065 Supernumerary Nostril 18
905 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 18
906 c USH043 Usher Syndrome, Type Ih 18
907 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
908 MCR302 Macrostomia, Isolated 18
909 TRC114 Trichodental Dysplasia 18
910 3P2001 3p25.3 Microdeletion Syndrome 18
911 CMP039 Camptodactyly 1 18
912 11Q001 11q22.2q22.3 Microdeletion Syndrome 18
913 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
914 c PSD047 Pseudo-Turner Syndrome 18
915 CNG347 Congenital Tricuspid Stenosis 18
916 OCL070 Oculopalatocerebral Syndrome 18
917 P RNG031 Ring Chromosome Y Syndrome 18
918 c MTR063 Maternal Uniparental Disomy of Chromosome 2 18
919 DST036 Distal Trisomy 15q 18
920 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
921 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 18
922 6Q1001 6q16 Deletion Syndrome 18
923 c OVR115 Ovarian Dysgenesis 5 18
924 RPD005 Rapidly Involuting Congenital Hemangioma 18
925 c SCK032 Seckel Syndrome 6 18
926 c HYD042 Hydrocephalus, Autosomal Dominant 18
927 PLY088 Polyvalvular Heart Disease Syndrome 18
928 TRC110 Tracheobronchial Stenosis, Congenital 18
929 7P2001 7p22.1 Microduplication Syndrome 18
930 CHR614 Chromosome 16p13.2 Deletion Syndrome 18
931 8P1001 8p11.2 Deletion Syndrome 17
932 SBR012 Subaortic Stenosis, Membranous 17
933 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
934 FRY007 Fryns Macrocephaly 17
935 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 17
936 DST045 Distal Trisomy 6p 17
937 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 17
938 TRN017 Transient Neonatal Neutropenia 17
939 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 17
940 CHR567 Chromosome 5q12 Deletion Syndrome 17
941 c STS009 Sotos Syndrome 3 17
942 c ACQ050 Acquired Schizencephaly 17
943 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
944 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 17
945 c TRN062 Transient Neonatal Myasthenia Gravis 17
946 c ATR065 Atrial Septal Defect 8 17
947 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 17
948 CNG489 Congenital Herpes Simplex Virus Infection 17
949 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 17
950 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
951 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
952 DBL010 Double-Orifice Mitral Valve 17
953 GBR007 Gabriele-De Vries Syndrome 17
954 c ATR056 Atrial Septal Defect 9 17
955 14Q001 14q12 Microdeletion Syndrome 17
956 c OVR102 Ovarian Dysgenesis 3 17
957 c EHL090 Ehlers-Danlos Syndrome Type 7b 17
958 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 17
959 c SPN421 Spinocerebellar Ataxia 47 17
960 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 17
961 16P003 16p13.11 Microdeletion Syndrome 17
962 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 17
963 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
964 MMM002 Mammary-Digital-Nail Syndrome 17
965 DYS135 Dysphagia Lusoria 17
966 MNS013 Monosomy 13q34 17
967 DST055 Distal 22q11.2 Microduplication Syndrome 17
968 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 17
969 ESS005 Essential Iris Atrophy 17
970 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 17
971 c LKD027 Leukodystrophy, Hypomyelinating, 14 17
972 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 17
973 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 17
974 ECT085 Ectopia Cordis 17
975 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 17
976 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
977 DST061 Distal Xq28 Microduplication Syndrome 17
978 TYS007 Tyshchenko Syndrome 17
979 c LKD028 Leukodystrophy, Hypomyelinating, 15 17
980 c LKD030 Leukodystrophy, Hypomyelinating, 17 17
981 DST037 Distal Monosomy 9p 17
982 KMM002 Kommerell Diverticulum 17
983 XLN198 X-Linked Diffuse Leiomyomatosis-Alport Syndrome 17
984 c SPN336 Spinocerebellar Ataxia Type 16 17
985 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 16
986 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 16
987 THM021 Thumb Deformity and Alopecia 16
988 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 16
989 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 16
990 CLF034 Cleft Hard Palate 16
991 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 16
992 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 16
993 ILL003 Illum Syndrome 16
994 XP2002 Xp22.13p22.2 Duplication Syndrome 16
995 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
996 c OMP009 Omphalocele, Autosomal 16
997 c ART054 Arthrogryposis, Distal, Type 2e 16
998 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
999 c EPP026 Epiphyseal Dysplasia, Multiple, 7 16
1000 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
1001 ATR053 Atresia of Urethra 16
1002 20Q001 20q13.33 Microdeletion Syndrome 16
1003 c STC007 Stickler Syndrome, Type 3 16
1004 DRM038 Dermotrichic Syndrome 16
1005 CNG330 Congenital Megacalycosis 16
1006 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
1007 ISL120 Isolated Cerebellar Agenesis 16
1008 DST035 Distal Trisomy 18q 16
1009 c PTR011 Paternal Uniparental Disomy of Chromosome 1 16
1010 RDL031 Radial Aplasia, X-Linked 16
1011 P HRD043 Hereditary Congenital Facial Paresis 16
1012 ESP040 Esophageal Duplication Cyst 16
1013 1P2001 1p21.3 Microdeletion Syndrome 16
1014 c GLP007 Geleophysic Dysplasia 3 16
1015 P ZYG003 Zygodactyly 1 16
1016 DDL001 Didelphys Uterus 16
1017 c GLC089 Glaucoma 3, Primary Congenital, E 16
1018 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 16
1019 CHN047 Chondroectodermal Dysplasia with Night Blindness 16
1020 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
1021 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 16
1022 AML053 Amelia, Autosomal Recessive 16
1023 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 16
1024 NND003 Non-Distal Trisomy 10q 16
1025 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 16
1026 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 15
1027 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 15
1028 PHK006 Phakomatosis Pigmentokeratotica 15
1029 c MTR067 Maternal Uniparental Disomy of Chromosome 16 15
1030 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 15
1031 CNG491 Congenital Portosystemic Shunt 15
1032 ART091 Aorto-Ventricular Tunnel 15
1033 CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 15
1034 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 15
1035 6P2001 6p22 Microdeletion Syndrome 15
1036 c LKD029 Leukodystrophy, Hypomyelinating, 16 15
1037 HYP727 Hypoglossia with Situs Inversus 15
1038 RGH010 Right Ventricular Hypoplasia, Isolated 15
1039 c PRT113 Parietal Foramina 3 15
1040 CNG243 Congenital Subglottic Stenosis 15
1041 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 15
1042 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 15
1043 PLM116 Pulmonary Artery Hypoplasia 15
1044 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 15
1045 10Q002 10q22.3q23.3 Microduplication Syndrome 15
1046 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 15
1047 P MTR062 Maternal Uniparental Disomy of Chromosome 4 15
1048 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 15
1049 CNS012 Cono-Spondylar Dysplasia 15
1050 c FCL050 Facial Paresis, Hereditary Congenital, 2 15
1051 c MTR057 Maternal Uniparental Disomy of Chromosome X 15
1052 P LRY049 Laryngotracheoesophageal Cleft Type 4 15
1053 WHB001 Wahab Syndrome 15
1054 DST079 Distal Trisomy 5q 15
1055 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 15
1056 INF021 Infant Gynecomastia 15
1057 DST038 Distal Monosomy 7q36 15
1058 CLF033 Cleft Mitral Valve 15
1059 CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 15
1060 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 15
1061 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
1062 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 15
1063 PRS111 Persistent Fifth Aortic Arch 15
1064 EXT062 Extracranial Carotid Artery Aneurysm 15
1065 c CNT108 Central Polydactyly 15
1066 49X004 49,xyyyy Syndrome 15
1067 CYS047 Cystic Fibrosis, Modifier of, 1 15
1068 RTF001 Retiform Hemangioendothelioma 15
1069 XSM001 X Small Rings 15
1070 HLL014 Hallux Varus and Preaxial Polysyndactyly 15
1071 DST082 Distal Trisomy 10q 15
1072 TRN046 Transverse Vaginal Septum 15
1073 FMR013 Femoral Agenesis/hypoplasia 15
1074 20Q003 20q11.2 Microdeletion Syndrome 15
1075 CMP077 Composite Hemangioendothelioma 15
1076 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 15
1077 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 15
1078 HYP497 Hyperphalangy 15
1079 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 15
1080 NND005 Non-Distal Trisomy 13q 15
1081 c KLF005 Kleefstra Syndrome 2 15
1082 c TYP003 Type I Ehlers-Danlos Syndrome 15
1083 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 15
1084 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
1085 DLT013 Deletion 5q35 15
1086 KLL013 Kallmann Syndrome-Heart Disease Syndrome 14
1087 MLC004 Mulchandani-Bhoj-Conlin Syndrome 14
1088 c MTR061 Maternal Uniparental Disomy of Chromosome 6 14
1089 LRS009 Larsen-Like Syndrome, Lethal Type 14
1090 UNL006 Unilateral Focal Polymicrogyria 14
1091 NSL017 Nasolacrimal Duct Cyst 14
1092 CRV066 Cervical Aortic Arch 14
1093 ACC011 Accessory Mitral Valve Tissue 14
1094 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
1095 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 14
1096 ACR109 Acropectororenal Dysplasia 14
1097 CNG284 Congenital Pseudoarthrosis of the Tibia 14
1098 MCR186 Microtriplication 11q24.1 14
1099 c SPN121 Spondylocostal Dysostosis 1 14
1100 SBM006 Submucosal Cleft Palate 14
1101 ATS182 Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly 14
1102 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 14
1103 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
1104 LGB002 Leg, Absence Deformity of, with Congenital Cataract 14
1105 CRN192 Craniorhiny 14
1106 CMP079 Complete Septate Uterus 14
1107 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 14
1108 UNL005 Unilateral Polymicrogyria 14
1109 TRP023 Triphalangeal Thumbs and Dislocation of Patella 14
1110 DST071 Distal Monosomy 19p13.3 14
1111 P CNG326 Congenital Primary Megaureter 14
1112 c SYN040 Synpolydactyly 3 14
1113 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 14
1114 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1115 c EFM001 Efemp2-Related Cutis Laxa 14
1116 CNG235 Congenital Microgastria 14
1117 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 14
1118 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
1119 XLN133 X-Linked Intellectual Disability, Shashi Type 14
1120 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
1121 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 14
1122 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 14
1123 MDL016 Midline Cervical Cleft 14
1124 ANR045 Aneurysm of Interventricular Septum 14
1125 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 14
1126 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1127 XQ1001 Xq12-Q13.3 Duplication Syndrome 14
1128 APR008 Aprosencephaly and Cerebellar Dysgenesis 14
1129 c LTB003 Ltbp4-Related Cutis Laxa 14
1130 CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 14
1131 CNG252 Congenital Non-Communicating Hydrocephalus 14
1132 c ACQ029 Acquired Porencephaly 13
1133 DRL001 Dural Sinus Malformation 13
1134 c TRS033 Trisomy 18-Like Syndrome 13
1135 MSC086 Mesocardia 13
1136 LNG081 Longitudinal Vaginal Septum 13
1137 RCT033 Rectal Duplication 13
1138 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 13
1139 c HTR012 Heterotaxy, Visceral, 3, Autosomal 13
1140 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 13
1141 NSL020 Nasal Glial Heterotopia 13
1142 CLF040 Cleft Lip-Retinopathy Syndrome 13
1143 P BLT016 Bilateral Polymicrogyria 13
1144 DST052 Distal 7q11.23 Microduplication Syndrome 13
1145 MSC078 Mosaic Trisomy 17 13
1146 TRN045 True Unicornuate Uterus 13
1147 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 13
1148 ANN015 Anonychia with Flexural Pigmentation 13
1149 PTN009 Patent Urachus 13
1150 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 13
1151 16P005 16p11.2p12.2 Microduplication Syndrome 13
1152 FRS011 First Branchial Cleft Anomaly 13
1153 c GLC052 Glaucoma 3, Primary Congenital, C 13
1154 XLN145 X-Linked Intellectual Disability, Pai Type 13
1155 ANR041 Aniridia-Intellectual Disability Syndrome 13
1156 PRT131 Partial Trisomy Distal 4q 13
1157 LWR017 Lower Limb Malformation-Hypospadias Syndrome 13
1158 MND008 Mandibular Arteriovenous Malformation 13
1159 P XKP001 Xk Aprosencephaly 13
1160 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 13
1161 c SCL053 Sclerocornea, Autosomal Dominant 13
1162 ACH028 Acheiria 13
1163 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 13
1164 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 13
1165 MSC080 Mosaic Trisomy 12 13
1166 5Q3001 5q35 Microduplication Syndrome 13
1167 CRN204 Craniofacial Conodysplasia 13
1168 c KLF002 Kleefstra Syndrome Due to a Point Mutation 13
1169 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 13
1170 ANR037 Aneurysm or Dilatation of Ascending Aorta 13
1171 c MTR060 Maternal Uniparental Disomy of Chromosome 9 13
1172 CMP084 Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome 13
1173 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
1174 PRT087 Parietal Encephalocele 13
1175 CNG335 Congenital Ectropion Uveae 13
1176 HND012 Handigodu Joint Disease 13
1177 CHR498 Chromosome 16p11.2 Duplication Syndrome 13
1178 ISL069 Isolated Micropenis 13
1179 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 13
1180 ERL036 Early-Onset Posterior Subcapsular Cataract 13
1181 c PST093 Posterior Hypospadias 12
1182 CRN194 Cranial Meningocele 12
1183 NND004 Non-Distal Monosomy 10q 12
1184 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 12
1185 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 12
1186 XLN142 X-Linked Intellectual Disability, Stevenson Type 12
1187 RNN006 Reunion Island Larsen Syndrome 12
1188 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12
1189 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 12
1190 PRC041 Pericardial and Diaphragmatic Defect 12
1191 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 12
1192 c CNG253 Congenital Communicating Hydrocephalus 12
1193 46X015 46,xy Ovotesticular Disorder of Sex Development 12
1194 SYM014 Symbrachydactyly of Hands and Feet 12
1195 MTR050 Maternal Hyperthermia Induced Birth Defects 12
1196 c CSK002 Cask-Related Intellectual Disability 12
1197 NSL021 Nasal Encephalocele 12
1198 c PTR019 Paternal Uniparental Disomy of Chromosome 5 12
1199 HGH026 High Anorectal Malformation 12
1200 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 12
1201 c ACR115 Acrorenal Syndrome, Autosomal Recessive 12
1202 5Q3002 5q31.3 Microdeletion Syndrome 12
1203 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 12
1204 ART097 Aorto-Left Ventricular Tunnel 12
1205 SHN001 Shone Complex 12
1206 13Q001 13q12.3 Microdeletion Syndrome 12
1207 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 12
1208 FRT004 Fourth Branchial Cleft Anomaly 12
1209 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 12
1210 PRM238 Primary Intralymphatic Angioendothelioma 12
1211 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
1212 VRR008 Verrucous Hemangioma 12
1213 CNG506 Congenital Amyoplasia 12
1214 c PTR015 Paternal Uniparental Disomy of Chromosome X 12
1215 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
1216 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
1217 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 11
1218 CNT077 Central Bilateral Macrogyria 11
1219 9Q3002 9q33.3q34.11 Microdeletion Syndrome 11
1220 P ANT062 Anterior Urethral Valve 11
1221 c SYN050 Syndactyly Type 6 11
1222 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
1223 c CNG346 Congenital Aortic Valve Insufficiency 11
1224 ART098 Aorto-Right Ventricular Tunnel 11
1225 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 11
1226 c MGL035 Megalencephaly, Autosomal Dominant 11
1227 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 11
1228 URC013 Urachal Diverticulum 11
1229 CNG519 Congenital Gerbode Defect 11
1230 c HYP545 Hypospadias 3, Autosomal 11
1231 ART095 Aortic Valve Atresia 11
1232 ABS016 Absence of the Pulmonary Artery 11
1233 IDP062 Idiopathic Syringomyelia 11
1234 CNG357 Congenital Symblepharon 11
1235 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 11
1236 c PRM168 Primary Syringomyelia 11
1237 MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 11
1238 c ACR046 Acropectorovertebral Dysplasia F Form 11
1239 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 11
1240 c SYN073 Syngap1-Related Intellectual Disability 11
1241 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 11
1242 c ATS065 Autosomal Dominant Coarctation of Aorta 11
1243 CNG244 Congenital Laryngeal Cyst 11
1244 ART130 Arthrogryposis with Hyperkeratosis 10
1245 LWN002 Low Anorectal Malformation 10
1246 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 10
1247 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 10
1248 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 10
1249 c CNG343 Congenital Coronary Artery Aneurysm 10
1250 c CNG455 Congenital Aortopulmonary Window 10
1251 PRS112 Persistent Eustachian Valve 10
1252 ISL118 Isolated Tracheoesophageal Fistula 10
1253 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 10
1254 c ISC013 Isochromosomy Yq 10
1255 URC012 Urachal Sinus 10
1256 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
1257 c CNG257 Congenital Pulmonary Sequestration 10
1258 GLS016 Glossopalatine Ankylosis 10
1259 c SPN122 Spondylocostal Dysostosis 2 10
1260 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 10
1261 HMR042 Humero-Ulnar Synostosis 10
1262 CNG318 Congenital Genu Recurvatum 10
1263 RTR022 Retrocerebellar Cyst 10
1264 DST089 Distal Trisomy 3p 10
1265 LWR014 Lower Limb Hypertrophy 10
1266 c USH011 Usher Syndrome, Type 2b 10
1267 c KRN003 Kernicterus Due to Isoimmunization 10
1268 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1269 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1270 c SPN123 Spondylocostal Dysostosis 3 10
1271 c SPN124 Spondylocostal Dysostosis 4 10
1272 c ZYG007 Zygodactyly Type 3 10
1273 LBR027 Laubry-Pezzi Syndrome 9
1274 ECT107 Ectasia of the Left Atrial Appendage 9
1275 ULN014 Ulnar Hemimelia 9
1276 CNG277 Congenital Pseudoarthrosis of the Fibula 9
1277 MSC090 Mosaic Trisomy 3 9
1278 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 9
1279 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 9
1280 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1281 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 9
1282 c HVP001 Hivep2-Related Intellectual Disability 9
1283 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 9
1284 JXT004 Juxtaposition of the Atrial Appendages 9
1285 CRN261 Craniosynostosis-Cataract Syndrome 9
1286 CRN207 Coronary Sinus Stenosis 9
1287 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1288 ISC011 Ischio-Vertebral Syndrome 9
1289 CNG279 Congenital Pseudoarthrosis of the Ulna 9
1290 CNG282 Congenital Knee Dislocation 9
1291 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 9
1292 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
1293 c INF166 Infantile Epileptic Encephalopathy 55 9
1294 c INF169 Infantile Epileptic Encephalopathy 59 9
1295 c ZYG006 Zygodactyly Type 2 9
1296 c GRD008 Grid2-Related Spinocerebellar Ataxia 9
1297 PLR014 Pleuro-Pericardial Cyst 9
1298 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 9
1299 INT254 Intermediate Anorectal Malformation 9
1300 CRV060 Cervical Dermoid Cyst 9
1301 PSD091 Pseudounicornuate Uterus 9
1302 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 9
1303 CRN208 Coronary Sinus Atresia 8
1304 MXL013 Maxillary Arteriovenous Malformation 8
1305 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 8
1306 c FBL003 Fbln5-Related Cutis Laxa 8
1307 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 8
1308 PRN048 Prenatal Benign Hypophosphatasia 8
1309 AML037 Amelia of Upper Limb 8
1310 CNG283 Congenital Pseudoarthrosis of the Femur 8
1311 CNG278 Congenital Pseudoarthrosis of the Radius 8
1312 TBF001 Tibio-Fibular Synostosis 8
1313 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 8
1314 MCR184 Macrodactyly of Fingers 8
1315 MCR185 Macrodactyly of Toes 8
1316 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1317 c INF165 Infantile Epileptic Encephalopathy 56 8
1318 c INF167 Infantile Epileptic Encephalopathy 57 8
1319 c INF168 Infantile Epileptic Encephalopathy 58 8
1320 MGC005 Megacystis-Megaureter Syndrome 8
1321 ACC010 Accessory Tricuspid Valve Tissue 8
1322 PRC042 Parachute Tricuspid Valve 8
1323 ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 8
1324 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 8
1325 APD003 Apodia 8
1326 3Q2004 3q26 Microduplication Syndrome 8
1327 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1328 PHK009 Phakomatosis Cesiomarmorata 8
1329 4P1001 4p16.3 Microduplication Syndrome 8
1330 MSC088 Mosaic Trisomy 5 8
1331 c PST077 Posterior Meningocele 8
1332 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 8
1333 c ZYG005 Zygodactyly Type 4 8
1334 BPR001 Bipartite Talus 8
1335 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 8
1336 c GLC032 Glaucoma, Hereditary 8
1337 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
1338 P JVN036 Juvenile Sialidosis Type 2 7
1339 c CNG348 Congenital Sialidosis Type 2 7
1340 c ATS360 Autosomal Recessive Intellectual Disability 58 7
1341 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
1342 c LRY051 Laryngotracheoesophageal Cleft Type 1 7
1343 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
1344 CMM018 Common Mesentery 7
1345 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 7
1346 RDL019 Radio-Ulnar Synostosis, Unilateral 7
1347 DST085 Distal Trisomy 2q 7
1348 DST057 Distal Trisomy 19q 7
1349 DST076 Distal Trisomy 13q 7
1350 3Q2006 3q27.3 Microdeletion Syndrome 7
1351 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 7
1352 TNN014 Tunnel Subaortic Stenosis 7
1353 c SX2003 Six2-Related Frontonasal Dysplasia 7
1354 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 7
1355 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 7
1356 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 7
1357 CNG272 Congenital Achiasma 7
1358 DNC006 Diencephalic-Mesencephalic Junction Dysplasia 7
1359 HMR031 Humeral Agenesis/hypoplasia 7
1360 HYP500 Hyperphalangy, Unilateral 7
1361 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1362 DST090 Distal Trisomy 2p 7
1363 ATS109 Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita 7
1364 c CNG476 Congenital Systemic Arteriovenous Fistula 7
1365 CRD171 Cordiform Uterus 7
1366 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
1367 CNG334 Congenital Esophageal Diverticulum 7
1368 c LRY048 Laryngotracheoesophageal Cleft Type 0 7
1369 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
1370 PHK010 Phakomatosis Spilorosea 7
1371 MSC087 Mosaic Trisomy 4 7
1372 DST078 Distal Trisomy 6q 7
1373 c MTR064 Maternal Uniparental Disomy of Chromosome 22 7
1374 DST081 Distal Trisomy 11q 7
1375 c ACR048 Acrorenal Syndrome Recessive 7
1376 c TRR002 Trio-Related Intellectual Disability 7
1377 c WCR002 Wac-Related Intellectual Disability 7
1378 c SN3001 Sin3a-Related Intellectual Disability Syndrome 6
1379 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 6
1380 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 6
1381 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
1382 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
1383 INT186 Intralobar Congenital Pulmonary Sequestration 6
1384 EXT047 Extralobar Congenital Pulmonary Sequestration 6
1385 CNG289 Congenital Absence/hypoplasia of Thumb 6
1386 CNG287 Congenital Absence of Both Forearm and Hand 6
1387 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
1388 HYP501 Hyperphalangy, Bilateral 6
1389 RDL020 Radio-Ulnar Synostosis, Bilateral 6
1390 LWR011 Lower Lip Fistula 6
1391 DST083 Distal Trisomy 9q 6
1392 DST073 Distal Monosomy 7p 6
1393 DST066 Distal Monosomy 20q 6
1394 DST069 Distal Monosomy 12q 6
1395 DST058 Distal Monosomy 12p 6
1396 UPP009 Upper Limb Hypertrophy 6
1397 CNG327 Congenital Epstein-Barr Virus Infection 6
1398 PRT111 Partial Septate Uterus 6
1399 P ATS403 Autosomal Dominant Intellectual Disability 40 6
1400 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 6
1401 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 6
1402 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 6
1403 ECT057 Ectasia of the Right Atrial Appendage 6
1404 ISL034 Isolated Megalencephaly 6
1405 CNG290 Congenital Absence of Both Lower Leg and Foot 6
1406 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6
1407 1P3003 1p35.2 Microdeletion Syndrome 6
1408 c PRD024 Prader-Willi Syndrome Due to Translocation 6
1409 THR083 Third Branchial Cleft Anomaly 6
1410 20P002 20p13 Microdeletion Syndrome 6
1411 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
1412 ISL108 Isolated Splenogonadal Fusion 6
1413 DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6
1414 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1415 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 6
1416 MDN007 Median Cleft Lip/mandibule 6
1417 14Q003 14q11.2 Microduplication Syndrome 6
1418 3Q2005 3q26q27 Microdeletion Syndrome 6
1419 7Q3001 7q31 Microdeletion Syndrome 6
1420 DST054 Distal 17p13.3 Microdeletion Syndrome 6
1421 21Q001 21q22.11q22.12 Microdeletion Syndrome 6
1422 c ANG058 Angelman Syndrome Due to a Point Mutation 6
1423 RTN189 Retinal Capillary Malformation 6
1424 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
1425 ISL029 Isolated Anorectal Malformation 6
1426 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1427 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 6
1428 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
1429 TRC084 Tricuspid Valve Agenesis 6
1430 CLS029 Celosomia 6
1431 BLK004 Blake Pouch Cyst 6
1432 ISL028 Isolated Cerebellar Vermis Hypoplasia 6
1433 c ISL045 Isolated Focal Cortical Dysplasia Type I 6
1434 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 6
1435 P ISL038 Isolated Focal Cortical Dysplasia Type Ib 6
1436 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 6
1437 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 6
1438 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 6
1439 PTR027 Peters Anomaly-Cataract Syndrome 6
1440 RGR003 Regressive Spondylometaphyseal Dysplasia 6
1441 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
1442 HMR036 Humero-Ulnar Synostosis, Unilateral 6
1443 HMR037 Humero-Ulnar Synostosis, Bilateral 6
1444 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
1445 11P002 11p15.4 Microduplication Syndrome 6
1446 EXT043 External Auditory Canal Aplasia/hypoplasia 6
1447 CHN052 Choanal Atresia, Bilateral 6
1448 LRY034 Laryngotracheal Angioma 6
1449 CCH007 Cochleovestibular Dysplasia 6
1450 DST088 Distal Trisomy 1p36 6
1451 2Q2002 2q23.1 Microduplication Syndrome 6
1452 DST087 Distal Trisomy 7p 6
1453 DST084 Distal Trisomy 8q 6
1454 DST075 Distal Trisomy 16q 6
1455 DST074 Distal Trisomy 20q 6
1456 DST077 Distal Trisomy 22q 6
1457 DST070 Distal Monosomy 4q 6
1458 9P1001 9p13 Microdeletion Syndrome 6
1459 9Q3001 9q31.1q31.3 Microdeletion Syndrome 6
1460 16Q002 16q24.1 Microdeletion Syndrome 6
1461 14Q005 14q24.1q24.3 Microdeletion Syndrome 6
1462 12Q001 12q15q21.1 Microdeletion Syndrome 6
1463 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 6
1464 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 6
1465 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
1466 P CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 6
1467 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 6
1468 P HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 6
1469 P RBN007 Rubinstein Taybi Like Syndrome 5
1470 ISL079 Isolated Encephalocele 5
1471 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1472 ART099 Aortic Valve Dysplasia 5
1473 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 5
1474 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1475 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1476 16P011 16p12.1p12.3 Triplication Syndrome 5
1477 LWM001 Low Implantation of Placenta 5
1478 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 5
1479 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 5
1480 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 5
1481 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
1482 XYL001 Xylt1-Cdg 5
1483 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
1484 MSC079 Mosaic Trisomy 1 5
1485 2Q3006 2q31.1 Microduplication Syndrome 5
1486 NND009 Non-Distal Trisomy 9q 5
1487 c PTR020 Paternal Uniparental Disomy of Chromosome 20 5
1488 NND008 Non-Distal Monosomy 7p 5
1489 NND006 Non-Distal Monosomy 20q 5
1490 DST067 Distal Monosomy 14q 5
1491 NND007 Non-Distal Monosomy 12q 5
1492 ATY020 Atypical Norrie Disease Due to Monosomy Xp11.3 5
1493 MCR188 Macrodactyly of Fingers, Unilateral 5
1494 MCR190 Macrodactyly of Toes, Unilateral 5
1495 c HYD017 Hydrocephalus Autosomal Recessive 5
1496 UNL009 Unilateral Congenital Megacalycosis 5
1497 CNG331 Congenital Bilateral Megacalycosis 5
1498 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 5
1499 CNG354 Congenital Complete Agenesis of Pericardium 5
1500 CNG353 Congenital Partial Agenesis of Pericardium 5
1501 STN015 Stenosis or Atresia of the Coronary Ostium 5
1502 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 5
1503 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
1504 PRM160 Premature Closure of the Arterial Duct 5
1505 P ISL048 Isolated Cerebellar Vermis Agenesis 5
1506 c ISL052 Isolated Total Cerebellar Vermis Agenesis 5
1507 ISL051 Isolated Partial Cerebellar Vermis Agenesis 5
1508 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 5
1509 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 5
1510 SBC038 Sub-Cortical Nodular Heterotopia 5
1511 UNL012 Unilateral Hemispheric Polymicrogyria 5
1512 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 5
1513 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 5
1514 P LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 5
1515 ISL056 Isolated Lissencephaly Type 1 Without Known Genetic Defects 5
1516 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 5
1517 CMP057 Complete Cryptophthalmia 5
1518 PRT091 Partial Cryptophthalmia 5
1519 ERL027 Early-Onset Non-Syndromic Cataract 5
1520 ERL042 Early-Onset Partial Cataract 5
1521 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
1522 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
1523 DYS128 Dysplasia of Head of Femur, Meyer Type 5
1524 MDL018 Madelung Deformity, Unilateral 5
1525 MDL017 Madelung Deformity, Bilateral 5
1526 CHR512 Cheirospondyloenchondromatosis 5
1527 AML036 Amelia of Lower Limb 5
1528 CNG391 Congenital Pseudoarthrosis of the Limbs 5
1529 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
1530 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1531 FCL034 Facial Dermoid Cyst 5
1532 CMM016 Commissural Lip Fistula 5
1533 CHN051 Choanal Atresia, Unilateral 5
1534 20Q002 20q11.2 Microduplication Syndrome 5
1535 CNG280 Congenital Shoulder Dislocation 5
1536 ISL117 Isolated Congenital Radial Head Dislocation 5
1537 AGN009 Agenesis and Aplasia of Uterine Body 5
1538 UTR055 Uterine Cervical Aplasia and Agenesis 5
1539 CNG517 Congenital Agenesis of the Scrotum 5
1540 c CRN093 Craniosynostosis Autosomal Dominant 5
1541 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 5
1542 INT219 Intramural Coronary Arterial Course 4
1543 HYP506 Hypoplasia of the Mitral Valve Annulus 4
1544 OPN003 Open Iniencephaly 4
1545 CLS021 Closed Iniencephaly 4
1546 ISL106 Isolated Congenital Microcephaly 4
1547 ISL044 Isolated Arhinencephaly 4
1548 c GLC029 Glaucoma Type 1c 4
1549 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1550 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1551 c GLC035 Glaucoma, Primary Infantile Type 3a 4
1552 c PRM147 Primary Megaureter, Adult-Onset Form 4
1553 ENC035 Encircling Double Aortic Arch 4
1554 DGS007 Digestive Duplication 4
1555 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1556 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 4
1557 P TSS001 Tessier Number 5 Facial Cleft 4
1558 ISL107 Isolated Congenital Syngnathia 4
1559 c MTR065 Maternal Uniparental Disomy of Chromosome 21 4
1560 c MTR079 Maternal Uniparental Disomy of Chromosome 13 4
1561 c PTR022 Paternal Uniparental Disomy of Chromosome 7 4
1562 c PTR021 Paternal Uniparental Disomy of Chromosome 21 4
1563 c PTR023 Paternal Uniparental Disomy of Chromosome 13 4
1564 2P1003 2p13.2 Microdeletion Syndrome 4
1565 4Q2002 4q25 Proximal Deletion Syndrome 4
1566 MYB004 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome 4
1567 CNG315 Congenital Vertical Talus, Unilateral 4
1568 CNG316 Congenital Vertical Talus, Bilateral 4
1569 MCR187 Macrodactyly of Fingers, Bilateral 4
1570 MCR189 Macrodactyly of Toes, Bilateral 4
1571 c ACS002 Acsl4-Related Intellectual Disability 4
1572 c ARX002 Arx-Related Intellectual Disability 4
1573 c DDX001 Ddx3x-Related Intellectual Disability 4
1574 c FML317 Familial Monosomy 7 Syndrome 4
1575 CNG270 Congenital Primary Megaureter, Obstructed Form 4
1576 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1577 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
1578 CRN206 Coronary Artery Intramyocardial Course 4
1579 ART114 Aortopulmonary Coronary Arterial Course 4
1580 ABN010 Abnormal Number of Coronary Ostia 4
1581 MLP005 Malposition of the Coronary Ostium 4
1582 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 4
1583 DSC011 Discrete Fibromuscular Subaortic Stenosis 4
1584 CNG361 Congenital Supravalvular Mitral Ring 4
1585 CNG360 Congenital Unguarded Mitral Orifice 4
1586 MTR068 Mitral Valve Agenesis 4
1587 ANM025 Anomaly of the Mitral Subvalvular Apparatus 4
1588 STR076 Straddling and/or Overriding Mitral Valve 4
1589 STR075 Straddling or Overriding Tricuspid Valve 4
1590 ANM024 Anomaly of the Tricuspid Valve Chordae 4
1591 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 4
1592 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
1593 XLN157 X-Linked Intellectual Disability, Porteous Type 4
1594 LTH040 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome 4
1595 LPT012 Leptomyelolipoma 4
1596 ISL035 Isolated Amyelia 4
1597 MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 4
1598 OVR117 Overgrowth Syndrome with 2q37 Translocation 4
1599 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 4
1600 CRV059 Cervicofacial Fibrochondroma 4
1601 NSL016 Nasal Dorsum Fistula/cyst 4
1602 PNN004 Pinnae Fistula or Cyst 4
1603 XLN226 X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome 4
1604 SPR109 Supratip Dysplasia 4
1605 XLN147 X-Linked Intellectual Disability, Stoll Type 4
1606 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 4
1607 PRT109 Partially Involuting Congenital Hemangioma 4
1608 FRN038 Frontonasal Arteriovenous Malformation 4
1609 NNT001 Neonatal Infective Mastitis 4
1610 TBL020 Tubular Duplication of the Esophagus 3
1611 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3
1612 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 3
1613 MDN006 Median Cleft of the Upper Lip and Maxilla 3
1614 c TSS003 Tessier Number 6 Facial Cleft 3
1615 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 3
1616 CNG322 Congenital Elbow Dislocation, Unilateral 3
1617 CNG321 Congenital Elbow Dislocation, Bilateral 3
1618 CNG317 Congenital Genu Flexum 3
1619 GLP005 Glioependymal/ependymal Cyst 3
1620 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3
1621 PTS016 Ptosis-Syndactyly-Learning Difficulties Syndrome 3
1622 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 3
1623 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 3
1624 WRF003 Warfarin Syndrome 31
1625 EMB004 Embryonal Carcinoma 56
1626 PRL032 Perlman Syndrome 45
1627 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 36
1628 c CNG133 Congenital Varicella Syndrome 29
1629 P VRC007 Varicella, Severe Recurrent 8
1630 TWN001 Twin-to-Twin Transfusion Syndrome 50
1631 FTL009 Fetal Akinesia Deformation Sequence 53
1632 DTH005 Diethylstilbestrol Syndrome 28
1633 IMM039 Immune Hydrops Fetalis 28
1634 FTL011 Fetal Aminopterin Syndrome 10
1635 FTL018 Fetal Indomethacin Syndrome 16
1636 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 13
1637 PHN003 Phenylketonuria 73
1638 P ICH004 Ichthyosis 54
1639 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
1640 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 45
1641 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 42
1642 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 35
1643 c ATS013 Autosomal Recessive Congenital Ichthyosis 34
1644 TST033 Testicular Regression Syndrome 31
1645 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 29
1646 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 28
1647 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
1648 c ICH023 Ichthyosis, Acquired 27
1649 EMB015 Embryonal Tumor with Multilayered Rosettes 27
1650 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 24
1651 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 24
1652 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 23
1653 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 21
1654 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 20
1655 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 18
1656 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 16
1657 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 16
1658 P END039 Endodermal Sinus Tumor 45
1659 TRT001 Teratocarcinoma 40
1660 GCH018 Gaucher Disease, Perinatal Lethal 31
1661 c ADL047 Adult Endodermal Sinus Tumor 9
1662 MRS006 Morse-Rawnsley-Sargent Syndrome 5
1663 c ART119 Arthrogryposis, Distal, Type 5 49
1664 c ART120 Arthrogryposis, Distal, Type 3 48
1665 c ART061 Arthrogryposis, Distal, Type 2a 45
1666 c ART146 Arthrogryposis, Distal, Type 9 41
1667 c ART147 Arthrogryposis, Distal, Type 7 34
1668 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 33
1669 P BTR001 Botryoid Rhabdomyosarcoma 32
1670 c ART112 Arthrogryposis, Distal, Type 10 27
1671 c ART128 Arthrogryposis, Distal, Type 6 23
1672 FTL024 Fetal Minoxidil Syndrome 15
1673 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 13
1674 PHN013 Phenobarbital Antenatal Exposure 8
1675 c ADL031 Adult Botryoid Rhabdomyosarcoma 6
1676 P RBL001 Rubella 62
1677 NRR002 Norrie Disease 61
1678 c CNG124 Congenital Rubella 47
1679 EMB007 Embryonal Sarcoma 46
1680 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 44
1681 BWN001 Bowen-Conradi Syndrome 43
1682 c LTH042 Lethal Congenital Contracture Syndrome 10 24
1683 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 24
1684 FTL064 Fetal Methylmercury Syndrome 22
1685 HRS002 Hersh Podruch Weisskopk Syndrome 21
1686 MTR016 Maternal Hyperphenylalaninemia 18
1687 CCN012 Cocaine Antenatal Exposure 17
1688 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 14
1689 P FTL014 Fetal Brain Disruption Sequence 11
1690 NNT022 Neonatal Ovarian Cyst 11
1691 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
1692 SMM002 Semmekrot Haraldsson Weemaes Syndrome 3
1693 FTL017 Fetal Enterovirus Syndrome 3
1694 P FNC027 Fanconi Anemia, Complementation Group a 78
1695 P OST002 Osteoporosis 76
1696 MRF001 Marfan Syndrome 74
1697 c ART101 Aortic Valve Disease 2 73
1698 FBR012 Fabry Disease 71
1699 CRZ001 Crouzon Syndrome 70
1700 WRN001 Werner Syndrome 69
1701 P DMN001 Diamond-Blackfan Anemia 69
1702 P TTR001 Tetralogy of Fallot 69
1703 DWN001 Down Syndrome 69
1704 P NRF023 Neurofibromatosis, Type Ii 68
1705 P TBR001 Tuberous Sclerosis 68
1706 P TRN020 Turner Syndrome 68
1707 APR006 Apert Syndrome 68
1708 SCH036 Scheie Syndrome 68
1709 P CWD001 Cowden Disease 67
1710 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
1711 P MCL013 Mucolipidosis Iv 67
1712 P PSD087 Pseudoxanthoma Elasticum 67
1713 P PRT008 Proteus Syndrome 66
1714 CST001 Costello Syndrome 66
1715 c NRF024 Neurofibromatosis, Type I 66
1716 P HLP001 Holoprosencephaly 66
1717 c TBR026 Tuberous Sclerosis 2 65
1718 P INT068 Intestinal Disease 64
1719 P CRN015 Cornelia De Lange Syndrome 64
1720 c MCP050 Mucopolysaccharidosis, Type Ii 63
1721 WLL001 Williams-Beuren Syndrome 63
1722 c MCL062 Mucolipidosis Ii Alpha/beta 63
1723 FBR011 Fibrodysplasia Ossificans Progressiva 63
1724 P KBK002 Kabuki Syndrome 1 63
1725 c MCP049 Mucopolysaccharidosis, Type Vii 63
1726 c DPH024 Diaphragmatic Hernia, Congenital 63
1727 c TBR025 Tuberous Sclerosis 1 62
1728 P CNG411 Congenital Disorder of Glycosylation, Type in 62
1729 HTC003 Hutchinson-Gilford Progeria Syndrome 62
1730 c MCP024 Mucopolysaccharidosis Type Vi 62
1731 P CLD001 Cleidocranial Dysplasia 62
1732 P BRD002 Bardet-Biedl Syndrome 62
1733 P HYP055 Hypoplastic Left Heart Syndrome 62
1734 PTR032 Peters-Plus Syndrome 62
1735 P OST001 Osteopetrosis 61
1736 PLC008 Placenta Disease 61
1737 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
1738 P TRC072 Treacher Collins Syndrome 1 61
1739 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
1740 P PRD006 Prader-Willi Syndrome 61
1741 CNT061 Conotruncal Heart Malformations 61
1742 BRN056 Bronchopulmonary Dysplasia 60
1743 MCR013 Microphthalmia 60
1744 ELL001 Ellis-Van Creveld Syndrome 60
1745 PLM070 Pulmonic Stenosis 60
1746 c MCP001 Mucopolysaccharidosis Iii 60
1747 P MLG056 Malignant Hyperthermia 59
1748 c PCH015 Pachyonychia Congenita 1 59
1749 DNH001 Donohue Syndrome 59
1750 SPN008 Spondyloepiphyseal Dysplasia Congenita 58
1751 c BRD014 Bardet-Biedl Syndrome 2 58
1752 PLC005 Placental Insufficiency 58
1753 HMF006 Hemifacial Microsomia 58
1754 P EPD009 Epidermolysis Bullosa Dystrophica 58
1755 P WRD001 Waardenburg's Syndrome 58
1756 P HYP035 Hypophosphatasia 58
1757 P HLL001 Hallermann-Streiff Syndrome 58
1758 P BCK002 Beckwith-Wiedemann Syndrome 57
1759 FCL081 Focal Cortical Dysplasia, Type Ii 57
1760 c INT072 Intestinal Pseudo-Obstruction 57
1761 P OCL013 Oculodentodigital Dysplasia 57
1762 c VSC019 Vesicoureteral Reflux 1 57
1763 HYP042 Hypochondroplasia 57
1764 P SLV001 Silver-Russell Syndrome 56
1765 c PRX045 Peroxisome Biogenesis Disorder 1b 56
1766 P RTH001 Rothmund-Thomson Syndrome 56
1767 P STC001 Stickler Syndrome 56
1768 P STS008 Sotos Syndrome 1 56
1769 HRL003 Hurler Syndrome 56
1770 PRR016 Pierre Robin Syndrome 56
1771 P INT070 Intestinal Obstruction 56
1772 c CHR320 Chiari Malformation Type I 55
1773 SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
1774 LPD016 Lipoid Proteinosis of Urbach and Wiethe 55
1775 CHR619 Chromosome 2q35 Duplication Syndrome 55
1776 VND007 Van Der Woude Syndrome 1 55
1777 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 54
1778 c BRD010 Bardet-Biedl Syndrome 1 54
1779 MCK005 Mckusick-Kaufman Syndrome 54
1780 ARS001 Aarskog-Scott Syndrome 54
1781 MCN007 Meconium Aspiration Syndrome 54
1782 P SCK004 Seckel Syndrome 54
1783 c CRP023 Carpenter Syndrome 1 54
1784 ALS001 Alstrom Syndrome 54
1785 PPL025 Popliteal Pterygium Syndrome 54
1786 P CRN108 Cranioectodermal Dysplasia 1 53
1787 ART001 Arterial Tortuosity Syndrome 53
1788 MLT135 Multiple Sulfatase Deficiency 53
1789 ACR011 Acromesomelic Dysplasia, Maroteaux Type 53
1790 SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 53
1791 CTS003 Coats Disease 53
1792 SPR004 Supravalvular Aortic Stenosis 53
1793 MYL020 Myelomeningocele 53
1794 SMT008 Smith-Magenis Syndrome 53
1795 P AXN002 Axenfeld-Rieger Syndrome 53
1796 c ACH041 Achondrogenesis, Type Ii 53
1797 c PSD066 Pseudohypoparathyroidism, Type Ib 53
1798 CLS005 Clouston Syndrome 52
1799 c GLC097 Glaucoma 3, Primary Congenital, a 52
1800 DXT001 Dextrocardia 52
1801 EBS001 Ebstein Anomaly 52
1802 PHL006 Phelan-Mcdermid Syndrome 52
1803 c MCP043 Mucopolysaccharidosis, Type Iiia 52
1804 GRG001 Greig Cephalopolysyndactyly Syndrome 52
1805 ARM001 Aromatase Deficiency 52
1806 c FML012 Familial Partial Lipodystrophy 52
1807 VTM027 Vitamin D-Dependent Rickets, Type 2a 51
1808 c WLF013 Wolfram Syndrome 1 51
1809 c CCK007 Cockayne Syndrome B 51
1810 P ADM011 Adams-Oliver Syndrome 51
1811 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 51
1812 P SHR001 Short Bowel Syndrome 51
1813 EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 51
1814 AGN012 Agnathia-Otocephaly Complex 51
1815 c WRD030 Waardenburg Syndrome, Type 1 51
1816 MCN017 Meconium Ileus 51
1817 FRS002 Frasier Syndrome 50
1818 PTS001 Patau Syndrome 50
1819 CCH002 Coach Syndrome 50
1820 PYC001 Pycnodysostosis 50
1821 PSD012 Pseudoachondroplasia 50
1822 CHR101 Char Syndrome 50
1823 BLL001 Baller-Gerold Syndrome 50
1824 CFF003 Caffey Disease 50
1825 MLT145 Multiple Enchondromatosis, Maffucci Type 50
1826 P GND004 Gonadal Dysgenesis 50
1827 P PRX021 Proximal Symphalangism 50
1828 P PSD015 Pseudohypoparathyroidism 50
1829 ULN003 Ulnar-Mammary Syndrome 50
1830 BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50
1831 PYL017 Pyle Disease 50
1832 P NLD001 Nail Disease 50
1833 c PST041 Posterior Urethral Valves 49
1834 TTR011 Tetraploidy 49
1835 c MCL046 Mucolipidosis Iii Alpha/beta 49
1836 DBL002 Double Outlet Right Ventricle 49
1837 CTY001 Cat Eye Syndrome 49
1838 P FBR025 Fibrochondrogenesis 49
1839 c RNG023 Ring Chromosome 7 49
1840 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49
1841 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 49
1842 c CNG216 Congenital Hydrocephalus 49
1843 P PRN026 Porencephaly 49
1844 CTS011 Cutis Marmorata Telangiectatica Congenita 49
1845 SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 49
1846 P WLL002 Weill-Marchesani Syndrome 49
1847 NLX004 Neu-Laxova Syndrome 1 49
1848 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1849 OCC006 Occipital Horn Syndrome 49
1850 YNS002 Yunis-Varon Syndrome 48
1851 JCK001 Jackson-Weiss Syndrome 48
1852 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48
1853 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1854 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 48
1855 c CCK008 Cockayne Syndrome a 48
1856 CRB045 Cerebellar Hypoplasia 48
1857 CNN011 Cenani-Lenz Syndactyly Syndrome 48
1858 c ORF037 Orofaciodigital Syndrome I 48
1859 MLL018 Miller-Dieker Lissencephaly Syndrome 48
1860 ACR012 Aicardi Syndrome 48
1861 P ORF001 Orofaciodigital Syndrome 48
1862 GLD006 Goldberg-Shprintzen Syndrome 47
1863 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 47
1864 P JNC001 Junctional Epidermolysis Bullosa 47
1865 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 47
1866 P CRN013 Craniodiaphyseal Dysplasia 47
1867 PLM041 Pulmonary Valve Stenosis 47
1868 CRD002 Cri-Du-Chat Syndrome 47
1869 c CRN139 Cornelia De Lange Syndrome 1 47
1870 c PCH012 Pachyonychia Congenita 2 47
1871 c BRC078 Brachydactyly, Type A1 47
1872 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 47
1873 P MRD002 Marden-Walker Syndrome 46
1874 RNL078 Renal Dysplasia 46
1875 c DMN023 Diamond-Blackfan Anemia 1 46
1876 c AXN009 Axenfeld-Rieger Syndrome, Type 1 46
1877 PST049 Postaxial Acrofacial Dysostosis 46
1878 TRC062 Tricuspid Atresia 46
1879 CHR594 Chromosome 3q29 Deletion Syndrome 46
1880 P PRT078 Partial Lipodystrophy 46
1881 ACR058 Acrofacial Dysostosis 1, Nager Type 46
1882 NRM019 Neuraminidase Deficiency 46
1883 P LRS001 Larsen Syndrome 46
1884 HMM003 Hemimegalencephaly 46
1885 CRN005 Craniofrontonasal Syndrome 46
1886 KPS002 Kaposiform Hemangioendothelioma 46
1887 P SCL048 Sclerosteosis 46
1888 MCR037 Macroglossia 46
1889 GLC106 Glucocorticoid Resistance, Generalized 46
1890 c BRD012 Bardet-Biedl Syndrome 11 45
1891 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 45
1892 c BRD044 Bardet-Biedl Syndrome 17 45
1893 c WRD020 Waardenburg Syndrome, Type 4a 45
1894 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 45
1895 P MLT072 Multiple Synostoses Syndrome 45
1896 FRY006 Fryns Microphthalmia Syndrome 45
1897 P CLB034 Coloboma, Ocular, Autosomal Dominant 45
1898 c SPL024 Split-Hand/foot Malformation 3 45
1899 c ACH042 Achondrogenesis, Type Ib 45
1900 MLT134 Multiple Pterygium Syndrome, Lethal Type 45
1901 SHR098 Short-Rib Thoracic Dysplasia 12 45
1902 P HYD033 Hydrolethalus Syndrome 1 45
1903 ACR013 Acrodysostosis 45
1904 P AML002 Amelogenesis Imperfecta 45
1905 BRN003 Branchiooculofacial Syndrome 45
1906 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 45
1907 P CRN276 Corneal Endothelial Dystrophy 45
1908 P MSC022 Mosaic Variegated Aneuploidy Syndrome 45
1909 P CHR342 Chiari Malformation 45
1910 c CHR579 Chiari Malformation Type Ii 45
1911 OCL033 Oculocerebral Syndrome with Hypopigmentation 45
1912 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 45
1913 P CHN044 Chondrodysplasia Punctata Syndrome 44
1914 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 44
1915 c BRC079 Brachydactyly, Type A2 44
1916 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 44
1917 c 46X001 46 Xy Gonadal Dysgenesis 44
1918 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 44
1919 P LSS036 Lissencephaly, X-Linked, 1 44
1920 P BRC015 Bruck Syndrome 44
1921 c HLP023 Holoprosencephaly 1 44
1922 c BRD013 Bardet-Biedl Syndrome 12 44
1923 SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 44
1924 c MCP044 Mucopolysaccharidosis, Type Iiib 44
1925 P FRN012 Frontometaphyseal Dysplasia 44
1926 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 44
1927 c ACH033 Achondrogenesis, Type Ia 44
1928 LRN001 Laurence-Moon Syndrome 44
1929 P ACH011 Achondrogenesis 44
1930 c LPD019 Lipodystrophy, Partial, Acquired 43
1931 c LSS005 Lissencephaly 1 43
1932 CHR222 Chromosome 1p36 Deletion Syndrome 43
1933 c RNL122 Renal Hypodysplasia/aplasia 3 43
1934 BHR002 Bohring-Opitz Syndrome 43
1935 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 43
1936 ASP004 Asphyxia Neonatorum 43
1937 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 43
1938 c USH038 Usher Syndrome, Type Iiia 43
1939 CHR211 Chromosome 18p Deletion Syndrome 43
1940 TRP014 Triploidy 42
1941 c HYP543 Hypoplastic Left Heart Syndrome 1 42
1942 LRY029 Laryngomalacia 42
1943 c ANT077 Anterior Segment Dysgenesis 1 42
1944 P OPT048 Opitz-Gbbb Syndrome 42
1945 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 42
1946 HND004 Hand-Foot-Genital Syndrome 42
1947 c ORF034 Orofaciodigital Syndrome Vi 42
1948 c BRD016 Bardet-Biedl Syndrome 4 42
1949 c LRS002 Larsen-Like Syndrome 42
1950 c BRD048 Bardet-Biedl Syndrome 18 42
1951 c BRD033 Bardet-Biedl Syndrome 13 41
1952 c SCL042 Sclerosteosis 2 41
1953 CLB010 Coloboma of Macula 41
1954 P SYN012 Synpolydactyly 41
1955 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 41
1956 LRW001 Leri-Weill Dyschondrosteosis 41
1957 JLL001 Jalili Syndrome 41
1958 c BRD011 Bardet-Biedl Syndrome 10 41
1959 MLT084 Multicystic Dysplastic Kidney 41
1960 PTC002 Potocki-Lupski Syndrome 41
1961 CRR002 Currarino Syndrome 41
1962 P ORF002 Orofacial Cleft 41
1963 46X012 46,xy Partial Gonadal Dysgenesis 41
1964 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 41
1965 HYP776 Hyperparathyroidism, Neonatal Severe 40
1966 c PRX059 Peroxisome Biogenesis Disorder 1a 40
1967 c BRD020 Bardet-Biedl Syndrome 8 40
1968 c SPN330 Spondylocostal Dysostosis 5 40
1969 c ATS282 Autosomal Recessive Malignant Osteopetrosis 40
1970 DDN011 Duodenal Atresia 40
1971 c MCR263 Microphthalmia, Syndromic 1 40
1972 c SPL034 Split-Hand/foot Malformation 4 40
1973 P PNC045 Pancreatic Agenesis 40
1974 HMH004 Hemihyperplasia, Isolated 40
1975 c BRD015 Bardet-Biedl Syndrome 3 40
1976 SPN060 Spondylocarpotarsal Synostosis Syndrome 40
1977 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 40
1978 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 40
1979 HRL004 Hurler-Scheie Syndrome 40
1980 c BRD032 Bardet-Biedl Syndrome 14 40
1981 DXT002 Dextrocardia with Situs Inversus 40
1982 NTV001 Native American Myopathy 40
1983 P PLY147 Polydactyly, Postaxial, Type A1 39
1984 RNL025 Renal Hypoplasia 39
1985 c BRD018 Bardet-Biedl Syndrome 6 39
1986 LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 39
1987 TRP009 Triple X Syndrome 39
1988 ACH001 Acheiropody 39
1989 P KLN006 Koolen-De Vries Syndrome 39
1990 c FRN036 Frontonasal Dysplasia 1 39
1991 47X002 47,xyy 39
1992 FBL002 Fibular Hypoplasia and Complex Brachydactyly 39
1993 c HLP026 Holoprosencephaly 3 39
1994 GST052 Gestational Choriocarcinoma 39
1995 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 39
1996 c WRD032 Waardenburg Syndrome, Type 2a 39
1997 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 39
1998 ARC007 Arachnoid Cysts 39
1999 c AXN010 Axenfeld-Rieger Syndrome, Type 3 39
2000 BLR027 Blue Rubber Bleb Nevus 39
2001 c DSB006 Desbuquois Dysplasia 1 39
2002 PTC001 Potocki-Shaffer Syndrome 39
2003 PRK003 Parkes Weber Syndrome 39
2004 STV003 Stuve-Wiedemann Syndrome 39
2005 c HLP024 Holoprosencephaly 2 39
2006 SLF014 Sulfite Oxidase Deficiency, Isolated 38
2007 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 38
2008 c HLP029 Holoprosencephaly 4 38
2009 c BRD035 Bardet-Biedl Syndrome 15 38
2010 P BRN042 Branchiootic Syndrome 38
2011 c SPL067 Split-Hand/foot Malformation 1 38
2012 CHR492 Chromosome 13q14 Deletion Syndrome 38
2013 MXL016 Maxillonasal Dysplasia, Binder Type 38
2014 OPS002 Opsismodysplasia 38
2015 c BRC081 Brachydactyly, Type C 38
2016 EPD022 Epidermolysis Bullosa Pruriginosa 38
2017 P ATL001 Atelosteogenesis 38
2018 DPH019 Diaphanospondylodysostosis 38
2019 c ATS393 Autosomal Recessive Cutis Laxa Type I 38
2020 P ANT088 Anterior Segment Dysgenesis 38
2021 ACR041 Acromelic Frontonasal Dysostosis 38
2022 c CNG413 Congenital Short Bowel Syndrome 38
2023 c OTP007 Otopalatodigital Syndrome, Type Ii 38
2024 CRN088 Craniorachischisis 37
2025 c PNC106 Pancreatic Agenesis 1 37
2026 P SPL061 Split Hand-Foot Malformation 37
2027 P MRN003 Marinesco-Sjogren Syndrome 37
2028 c ZMM002 Zimmermann-Laband Syndrome 1 37
2029 c RNG004 Ring Chromosome 1 37
2030 c BRN108 Branchiootic Syndrome 1 37
2031 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 37
2032 c BRC051 Brachydactyly, Type B1 37
2033 c BRD017 Bardet-Biedl Syndrome 5 37
2034 c RNG008 Ring Chromosome 13 37
2035 FNT005 Fontaine Progeroid Syndrome 37
2036 c ANT071 Anterior Segment Dysgenesis 4 37
2037 RVL002 Ruvalcaba Syndrome 37
2038 c CTS045 Cutis Laxa, Autosomal Dominant 1 37
2039 c MCR124 Microphthalmia, Isolated 1 36
2040 c PSD117 Pseudohypoparathyroidism, Type Ic 36
2041 LRN006 Laurin-Sandrow Syndrome 36
2042 c AML020 Amelogenesis Imperfecta, Type Iv 36
2043 c ATL011 Atelosteogenesis, Type I 36
2044 c OTP006 Otopalatodigital Syndrome, Type I 36
2045 c SPL070 Split-Hand/foot Malformation 2 36
2046 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
2047 P ANX007 Anauxetic Dysplasia 1 36
2048 CYL001 Cayler Cardiofacial Syndrome 36
2049 EMN001 Emanuel Syndrome 36
2050 c OST126 Osteopetrosis, Autosomal Recessive 1 36
2051 ASC009 Ascites, Chylous 36
2052 CHR518 Chromosome 9p Deletion Syndrome 36
2053 TRS002 Tarsal-Carpal Coalition Syndrome 36
2054 c STC015 Stickler Syndrome, Type I 36
2055 c AML044 Amelogenesis Imperfecta, Type Ig 36
2056 c RTS003 Ritscher-Schinzel Syndrome 1 36
2057 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
2058 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 36
2059 c ADM005 Adams-Oliver Syndrome 1 36
2060 CHN057 Chondrodysplasia, Grebe Type 36
2061 DSM002 Desmosterolosis 36
2062 c MLG147 Malignant Hyperthermia 1 36
2063 DYS048 Dysplasia Epiphysealis Hemimelica 36
2064 CHR659 Chromosome 22q11.2 Duplication Syndrome 36
2065 c BRC109 Brachydactyly, Type E1 36
2066 c LSS006 Lissencephaly 2 35
2067 c AML061 Amelogenesis Imperfecta, Type Ie 35
2068 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 35
2069 P SYN059 Syndactyly, Type V 35
2070 c WRD024 Waardenburg Syndrome, Type 4c 35
2071 P SMT022 Smith-Mccort Dysplasia 1 35
2072 NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 35
2073 HYD001 Hydranencephaly 35
2074 c SYN061 Syndactyly, Type Iv 35
2075 GNT026 Gnathodiaphyseal Dysplasia 35
2076 WYR002 Weyers Acrofacial Dysostosis 35
2077 EMP011 Emphysema, Congenital Lobar 35
2078 PLC006 Placental Choriocarcinoma 35
2079 CRY032 Carey-Fineman-Ziter Syndrome 35
2080 CTL005 Catel-Manzke Syndrome 35
2081 DND005 Dandy-Walker Complex 35
2082 c LPD021 Lipodystrophy, Familial Partial, Type 3 35
2083 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 35
2084 MTT002 Metatropic Dysplasia 35
2085 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 35
2086 BSM002 Bosma Arhinia Microphthalmia Syndrome 35
2087 c SPL033 Split-Hand/foot Malformation 6 35
2088 JBR005 Joubert Syndrome with Ocular Anomalies 35
2089 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 35
2090 CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 35
2091 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 35
2092 P CRB154 Cerebrocostomandibular Syndrome 34
2093 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 34
2094 PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 34
2095 SLT005 Solitary Median Maxillary Central Incisor 34
2096 CHR582 Chromosome 3q29 Duplication Syndrome 34
2097 CHR662 Chromosome 15q13.3 Deletion Syndrome 34
2098 c ANT086 Anterior Segment Dysgenesis 2 34
2099 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
2100 c MCP045 Mucopolysaccharidosis, Type Iiic 34
2101 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 34
2102 LTR009 Lateral Meningocele Syndrome 34
2103 FMR018 Femoral-Facial Syndrome 34
2104 c BRD045 Bardet-Biedl Syndrome 19 34
2105 c WRD031 Waardenburg Syndrome, Type 3 34
2106 PSD021 Pseudovaginal Perineoscrotal Hypospadias 34
2107 SCH071 Schaaf-Yang Syndrome 34
2108 TMP012 Temple Syndrome 34
2109 CHR075 Choriocarcinoma of Ovary 34
2110 c WLF009 Wolfram Syndrome 2 34
2111 c AML017 Amelogenesis Imperfecta, Type Ib 34
2112 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
2113 48X003 48,xxyy Syndrome 34
2114 FML307 Familial Calcium Pyrophosphate Deposition 33
2115 c ATL015 Atelosteogenesis, Type Ii 33
2116 OST062 Osteoarthritis with Mild Chondrodysplasia 33
2117 LNG040 Langer Mesomelic Dysplasia 33
2118 c PSD104 Pseudohypoparathyroidism, Type Ii 33
2119 49X002 49,xxxxy Syndrome 33
2120 MSC020 Mosaic Trisomy 8 33
2121 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33
2122 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 33
2123 c BRD047 Bardet-Biedl Syndrome 16 33
2124 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 33
2125 PRT049 Partial Deletion of Y 33
2126 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
2127 LMB010 Lambert Syndrome 33
2128 TRC097 Tracheomalacia 33
2129 KGM001 Kagami-Ogata Syndrome 33
2130 BNB002 Bainbridge-Ropers Syndrome 32
2131 OCL039 Oculoectodermal Syndrome 32
2132 GRN034 Grange Syndrome 32
2133 WTK002 Witkop Syndrome 32
2134 TRC035 Tracheal Agenesis 32
2135 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 32
2136 c OST129 Osteopetrosis, Autosomal Recessive 2 32
2137 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 32
2138 P MTP005 Metaphyseal Anadysplasia 32
2139 END059 Endocrine-Cerebroosteodysplasia 32
2140 c RNG020 Ring Chromosome 4 32
2141 c SPL025 Split-Hand/foot Malformation 5 32
2142 c HLP028 Holoprosencephaly 5 32
2143 PRT048 Partial Atrioventricular Canal 32
2144 DYG001 Dyggve-Melchior-Clausen Disease 32
2145 HYP596 Hypophosphatasia, Childhood 32
2146 c WRD010 Waardenburg Syndrome Type 4 32
2147 c PRX055 Peroxisome Biogenesis Disorder 11a 32
2148 LCR013 Lacrimal Duct Defect 32
2149 SCH030 Schneckenbecken Dysplasia 32
2150 FML264 Familial Bicuspid Aortic Valve 32
2151 BLR028 Biliary Atresia, Extrahepatic 32
2152 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 31
2153 c MTR080 Mitral Valve Prolapse 1 31
2154 ATY016 Atypical Werner Syndrome 31
2155 TTR012 Tetrasomy 9p 31
2156 c RNG018 Ring Chromosome 22 31
2157 P EHL081 Ehlers-Danlos Syndrome, Classic-Like 31
2158 TTR025 Tetraamelia Syndrome, Autosomal Recessive 31
2159 P PLY148 Polydactyly, Preaxial Ii 31
2160 OTD001 Otodental Dysplasia 31
2161 c AML057 Amelogenesis Imperfecta, Type Iiia 31
2162 PLT007 Palatopharyngeal Incompetence 31
2163 HMF010 Hemifacial Microsomia with Radial Defects 31
2164 P MCR122 Microphthalmia, Isolated 5 31
2165 c MCP046 Mucopolysaccharidosis, Type Iiid 31
2166 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 31
2167 P ANG013 Angioma Serpiginosum 31
2168 c PCH010 Pachyonychia Congenita 3 31
2169 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 31
2170 c MCR211 Microphthalmia, Isolated 6 31
2171 CHR525 Chromosome Xq26.3 Duplication Syndrome 31
2172 TRP006 Tarp Syndrome 30
2173 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
2174 c PRV019 Periventricular Nodular Heterotopia 1 30
2175 c MCP048 Mucopolysaccharidosis, Type Ivb 30
2176 SPN154 Spondyloperipheral Dysplasia 30
2177 PSD046 Pseudotrisomy 13 Syndrome 30
2178 c OMD001 Omodysplasia 1 30
2179 P OTF004 Otofaciocervical Syndrome 1 30
2180 MSC021 Mosaic Trisomy 9 30
2181 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 30
2182 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30
2183 CMP035 Complete Atrioventricular Canal 30
2184 c CCK002 Cockayne Syndrome Type I 30
2185 c HLP027 Holoprosencephaly 7 30
2186 PRG123 Progeroid Syndrome, Neonatal 30
2187 PRG023 Progeroid Short Stature with Pigmented Nevi 30
2188 c LSS037 Lissencephaly, X-Linked, 2 30
2189 c EPP017 Epiphyseal Dysplasia, Multiple, 1 30
2190 MTC018 Metachondromatosis 30
2191 CLV004 Calvarial Hyperostosis 30
2192 ASP026 Asplenia, Isolated Congenital 30
2193 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 30
2194 INN003 Iniencephaly 29
2195 c WRD019 Waardenburg Syndrome, Type 4b 29
2196 c FRN048 Frontometaphyseal Dysplasia 2 29
2197 MCR025 Microhydranencephaly 29
2198 P SYN075 Syngnathia 29
2199 c CCK003 Cockayne Syndrome Type Ii 29
2200 NBL001 Nablus Mask-Like Facial Syndrome 29
2201 c MCR329 Microcephaly, Autosomal Dominant 29
2202 TRC118 Trichodentoosseous Syndrome 29
2203 c ATL012 Atelosteogenesis, Type Iii 29
2204 c FNC062 Fanconi Anemia, Complementation Group S 29
2205 c SCL045 Sclerosteosis 1 29
2206 CBB002 Cobb Syndrome 29
2207 c KNN009 Kenny-Caffey Syndrome, Type 1 29
2208 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 29
2209 P FML284 Familial Vesicoureteral Reflux 29
2210 c STC013 Stickler Syndrome, Type Ii 29
2211 WLD004 Wildervanck Syndrome 29
2212 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 29
2213 c FNC023 Fanconi Anemia, Complementation Group N 29
2214 CHR523 Chromosome 15q11.2 Deletion Syndrome 29
2215 CTR014 Cataract Microcornea Syndrome 29
2216 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 29
2217 MCH011 Meacham Syndrome 29
2218 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
2219 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
2220 RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 29
2221 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 29
2222 49X001 49, Xxxxx 29
2223 c FNC028 Fanconi Anemia, Complementation Group L 29
2224 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
2225 VRT007 Vertical Talus, Congenital 29
2226 c PRX063 Peroxisome Biogenesis Disorder 2a 29
2227 P XLN161 X-Linked Chondrodysplasia Punctata 29
2228 MSM004 Mesomelia-Synostoses Syndrome 29
2229 CHR270 Chromosome 9p Duplication 28
2230 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28
2231 P ZMM001 Zimmermann-Laband Syndrome 28
2232 CNG134 Congenitally Corrected Transposition of the Great Arteries 28
2233 SPN348 Spondylometaphyseal Dysplasia, Axial 28
2234 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 28
2235 CLL036 Culler-Jones Syndrome 28
2236 PLM058 Pulmonary Atresia with Intact Ventricular Septum 28
2237 PNT009 Pontine Tegmental Cap Dysplasia 28
2238 FRN022 Frontofacionasal Dysplasia 28
2239 ANR010 Aneurysm of Sinus of Valsalva 28
2240 c BRD019 Bardet-Biedl Syndrome 7 28
2241 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
2242 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
2243 c MLT059 Multiple Synostoses Syndrome 1 28
2244 c RNG022 Ring Chromosome 6 28
2245 c PRX060 Peroxisome Biogenesis Disorder 5a 28
2246 c CRN109 Cranioectodermal Dysplasia 2 28
2247 TBL008 Tibial Hemimelia 28
2248 P DSB002 Desbuquois Dysplasia 28
2249 INF133 Inferior Vena Cava Interruption 28
2250 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 28
2251 TTR013 Tetrasomy X 28
2252 MTP028 Metaphyseal Dysplasia, Spahr Type 28
2253 BRN055 Bronchogenic Cyst 28
2254 DYS045 Dysosteosclerosis 28
2255 P RTS001 Ritscher-Schinzel Syndrome 28
2256 CRD017 Cardiac Valvular Dysplasia, X-Linked 27
2257 LMB008 Limb-Mammary Syndrome 27
2258 c MCR245 Microphthalmia, Syndromic 8 27
2259 c PRX053 Peroxisome Biogenesis Disorder 14b 27
2260 c LPD040 Lipodystrophy, Familial Partial, Type 1 27
2261 KLB005 Kleeblattschaedel 27
2262 c RNG010 Ring Chromosome 15 27
2263 NNG001 Non-Gestational Choriocarcinoma 27
2264 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 27
2265 ISD002 Isodicentric Chromosome 15 Syndrome 27
2266 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
2267 MSM016 Mesomelic Dysplasia, Kantaputra Type 27
2268 c PRX056 Peroxisome Biogenesis Disorder 11b 27
2269 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 27
2270 CHR229 Chromosome 20p Duplication 27
2271 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 27
2272 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 27
2273 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27
2274 CHR209 Chromosome 17p Duplication 27
2275 c ACR106 Acrocephalopolysyndactyly Type Iii 27
2276 WSM003 Weismann-Netter Syndrome 27
2277 c ADM007 Adams-Oliver Syndrome 2 27
2278 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
2279 CYS041 Cystic Angiomatosis of Bone, Diffuse 27
2280 c RNG007 Ring Chromosome 12 27
2281 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27
2282 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 27
2283 c ANT084 Anterior Segment Dysgenesis 3 27
2284 46X057 46,xy Sex Reversal 8 27
2285 c CRP022 Carpenter Syndrome 2 27
2286 c ALG016 Alagille Syndrome 2 27
2287 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
2288 c RNG017 Ring Chromosome 21 26
2289 ACR099 Acrofacial Dysostosis, Catania Type 26
2290 c RNG005 Ring Chromosome 10 26
2291 PGD001 Pagod Syndrome 26
2292 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 26
2293 c SYN060 Syndactyly, Type Iii 26
2294 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 26
2295 c PRT063 Proteus-Like Syndrome 26
2296 c DNT021 Dent Disease 2 26
2297 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
2298 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 26
2299 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 26
2300 CHR212 Chromosome 18p Duplication 26
2301 CHR265 Chromosome 8p Duplication 26
2302 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 26
2303 c BRC045 Brachyolmia Type 3 26
2304 CHR225 Chromosome 1q21.1 Duplication Syndrome 26
2305 HGH023 High Bone Mass Osteogenesis Imperfecta 26
2306 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 26
2307 c PRX054 Peroxisome Biogenesis Disorder 12a 26
2308 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26
2309 c DMN017 Diamond-Blackfan Anemia 10 26
2310 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 26
2311 c EPP014 Epiphyseal Dysplasia, Multiple, 4 26
2312 MSC016 Mosaic Trisomy 14 26
2313 c RNG029 Ring Chromosome 14 Syndrome 26
2314 HYP682 Hypertelorism, Teebi Type 26
2315 c ADM010 Adams-Oliver Syndrome 5 26
2316 c PTT029 Pitt-Hopkins-Like Syndrome 1 26
2317 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
2318 c CRN134 Cornelia De Lange Syndrome 2 26
2319 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 26
2320 HRY005 Hairy Elbows 26
2321 HRD037 Hardikar Syndrome 26
2322 DFF022 Diffuse Neonatal Hemangiomatosis 26
2323 PSD030 Pseudodiastrophic Dysplasia 26
2324 LCH015 Lichtenstein-Knorr Syndrome 26
2325 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 26
2326 CHR266 Chromosome 8p23.1 Deletion 26
2327 CHR190 Chromosome 12p Duplication 26
2328 PNC104 Pancreatic and Cerebellar Agenesis 26
2329 HYP648 Hypertension and Brachydactyly Syndrome 26
2330 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
2331 16Q001 16q24.3 Microdeletion Syndrome 25
2332 P RNL123 Renal Agenesis, Bilateral 25
2333 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 25
2334 c FRN049 Frontometaphyseal Dysplasia 1 25
2335 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 25
2336 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 25
2337 BLP041 Blepharochalasis and Double Lip 25
2338 HYP180 Hypertrichosis Lanuginosa Congenita 25
2339 CHR524 Chromosome 16p13.3 Duplication Syndrome 25
2340 CDL005 Caudal Duplication Anomaly 25
2341 STB002 Satb2-Associated Syndrome 25
2342 c LPD034 Lipodystrophy, Familial Partial, Type 4 25
2343 DPH012 Diphallia 25
2344 c BRD050 Bardet-Biedl Syndrome 21 25
2345 c EPP013 Epiphyseal Dysplasia, Multiple, 5 25
2346 c RNG016 Ring Chromosome 20 25
2347 c HLP025 Holoprosencephaly 9 25
2348 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 25
2349 c CCK004 Cockayne Syndrome Type Iii 25
2350 SHR108 Short Stature, Idiopathic, X-Linked 25
2351 P TTH021 Tethered Cord Syndrome 25
2352 CHR588 Chromosome 8q22.1 Duplication Syndrome 25
2353 c DSB005 Desbuquois Dysplasia 2 25
2354 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 25
2355 NVR001 Nievergelt Syndrome 25
2356 c PCH011 Pachyonychia Congenita 4 25
2357 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
2358 c DMN022 Diamond-Blackfan Anemia 9 25
2359 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 25
2360 c DMN021 Diamond-Blackfan Anemia 6 25
2361 MND023 Mend Syndrome 25
2362 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 25
2363 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 25
2364 PRS051 Parastremmatic Dwarfism 25
2365 VSC050 Vascular Malformation, Primary Intraosseous 25
2366 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 25
2367 c PLY149 Polydactyly, Preaxial Iv 25
2368 c RNG024 Ring Chromosome 8 25
2369 c FNC048 Fanconi Anemia, Complementation Group O 25
2370 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 25
2371 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
2372 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 25
2373 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 24
2374 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 24
2375 RCM003 Recombinant Chromosome 8 Syndrome 24
2376 c FNC029 Fanconi Anemia, Complementation Group I 24
2377 DGT005 Digital Arthropathy-Brachydactyly, Familial 24
2378 c RNG015 Ring Chromosome 2 24
2379 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 24
2380 c OMD002 Omodysplasia 2 24
2381 c PRX065 Peroxisome Biogenesis Disorder 3a 24
2382 RMR001 Ramer Ladda Syndrome 24
2383 LLS001 Lelis Syndrome 24
2384 c PRX091 Peroxisome Biogenesis Disorder 8a 24
2385 c LSS025 Lissencephaly 5 24
2386 c ORF036 Orofaciodigital Syndrome Xiv 24
2387 c ANT085 Anterior Segment Dysgenesis 5 24
2388 PLM059 Pulmonary Atresia with Ventricular Septal Defect 24
2389 ACL002 Acalvaria 24
2390 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 24
2391 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
2392 c PRX057 Peroxisome Biogenesis Disorder 4a 24
2393 c KBK003 Kabuki Syndrome 2 24
2394 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
2395 CHR252 Chromosome 5p Duplication 24
2396 c CRN111 Cranioectodermal Dysplasia 4 24
2397 ACR107 Acrofacial Dysostosis, Palagonia Type 24
2398 c ANT083 Anterior Segment Dysgenesis 7 24
2399 c PRX048 Peroxisome Biogenesis Disorder 10a 24
2400 c PRX046 Peroxisome Biogenesis Disorder 7a 24
2401 CLF051 Cleft Larynx, Posterior 24
2402 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
2403 PRP090 Peripheral Dysostosis 24
2404 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
2405 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
2406 c HLP016 Holoprosencephaly 11 24
2407 c OTF003 Otofaciocervical Syndrome 2 23
2408 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 23
2409 OCL040 Oculomaxillofacial Dysostosis 23
2410 c CRN209 Cornelia De Lange Syndrome 5 23
2411 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 23
2412 c RNG013 Ring Chromosome 18 23
2413 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 23
2414 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 23
2415 LRY046 Laryngeal Web, Familial 23
2416 c OST106 Osteopetrosis, Autosomal Recessive 8 23
2417 SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 23
2418 c FNC046 Fanconi Anemia, Complementation Group P 23
2419 SKN024 Skin Fragility-Woolly Hair Syndrome 23
2420 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 23
2421 c SMT018 Smith-Mccort Dysplasia 2 23
2422 c PRX052 Peroxisome Biogenesis Disorder 13a 23
2423 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 23
2424 c DMN019 Diamond-Blackfan Anemia 4 23
2425 c BRD021 Bardet-Biedl Syndrome 9 23
2426 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23
2427 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 23
2428 c DMN024 Diamond-Blackfan Anemia 7 23
2429 FMR016 Femur-Fibula-Ulna Syndrome 23
2430 AXL004 Axial Mesodermal Dysplasia Spectrum 23
2431 c ORF046 Orofaciodigital Syndrome Xvi 23
2432 c CRN110 Cranioectodermal Dysplasia 3 23
2433 CRT060 Cor Triatriatum Sinister 23
2434 PNS015 Penoscrotal Transposition 23
2435 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 23
2436 CHR268 Chromosome 8q Duplication 23
2437 c BRN128 Branchiootic Syndrome 3 23
2438 MCR067 Microcoria, Congenital 23
2439 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 23
2440 BRN123 Branchial Arch Syndrome, X-Linked 23
2441 CGN001 Cogan-Reese Syndrome 23
2442 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 23
2443 AMN014 Aminopterin Syndrome Sine Aminopterin 23
2444 TBS009 Teebi-Shaltout Syndrome 23
2445 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 23
2446 c OST120 Osteopetrosis, Autosomal Recessive 5 23
2447 c FCL046 Focal Facial Dermal Dysplasia 4 23
2448 CRN272 Craniometadiaphyseal Dysplasia 23
2449 BNM015 Bone Mineral Density Quantitative Trait Locus 18 23
2450 SYM024 Symphalangism, Distal 22
2451 c PRX043 Peroxisome Biogenesis Disorder 6b 22
2452 PLY135 Polydactyly, Postaxial, with Progressive Myopia 22
2453 c MLT060 Multiple Synostoses Syndrome 2 22
2454 OSB001 Osebold-Remondini Syndrome 22
2455 c WRD029 Waardenburg Syndrome, Type 2b 22
2456 c MCR137 Microphthalmia, Isolated 2 22
2457 c PRX051 Peroxisome Biogenesis Disorder 6a 22
2458 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 22
2459 c OST137 Osteopetrosis, Autosomal Recessive 4 22
2460 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
2461 c CRN221 Craniosynostosis 4 22
2462 c SYM022 Symphalangism, Proximal, 1a 22
2463 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 22
2464 c FBR029 Fibrochondrogenesis 1 22
2465 CHR248 Chromosome 4p Duplication 22
2466 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 22
2467 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 22
2468 GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 22
2469 c PRX050 Peroxisome Biogenesis Disorder 9b 22
2470 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 22
2471 GNT043 Genitopalatocardiac Syndrome 22
2472 c CRN215 Cornelia De Lange Syndrome 4 22
2473 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 22
2474 c DMN018 Diamond-Blackfan Anemia 5 22
2475 c PRX058 Peroxisome Biogenesis Disorder 4b 22
2476 c DMN040 Diamond-Blackfan Anemia 16 22
2477 c ORF045 Orofaciodigital Syndrome Xv 22
2478 c ACR105 Acrofrontofacionasal Dysostosis 2 22
2479 AKL001 Au-Kline Syndrome 22
2480 FBR087 Fibromatosis, Gingival, with Distinctive Facies 22
2481 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 22
2482 CHR241 Chromosome 2q24 Microdeletion Syndrome 22
2483 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 22
2484 P ACR108 Acrocephalopolysyndactyly Type Iv 22
2485 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
2486 HMR018 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 22
2487 ATX037 Ataxia-Deafness-Retardation Syndrome 22
2488 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 22
2489 ART037 Arthrogryposis and Ectodermal Dysplasia 22
2490 LRY028 Laryngocele 22
2491 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
2492 c CRN135 Cornelia De Lange Syndrome 3 22
2493 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 22
2494 c BRC048 Bruck Syndrome 2 22
2495 THV001 Thauvin-Robinet-Faivre Syndrome 22
2496 c BRD051 Bardet-Biedl Syndrome 20 22
2497 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 22
2498 c DMN029 Diamond-Blackfan Anemia 11 22
2499 c FNC047 Fanconi Anemia, Complementation Group Q 22
2500 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
2501 c PRX047 Peroxisome Biogenesis Disorder 5b 22
2502 c DMN006 Diamond-Blackfan Anemia 3 22
2503 OST168 Osteosclerotic Metaphyseal Dysplasia 22
2504 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
2505 URC005 Urachal Cyst 21
2506 c BRN073 Branchiootic Syndrome 2 21
2507 c MCR109 Microphthalmia, Isolated 4 21
2508 ACK001 Ackerman Syndrome 21
2509 c CLB022 Coloboma, Ocular, Autosomal Recessive 21
2510 c PRX062 Peroxisome Biogenesis Disorder 8b 21
2511 c ADM009 Adams-Oliver Syndrome 4 21
2512 c MCR219 Microphthalmia, Isolated 8 21
2513 VNT030 Ventriculomegaly with Cystic Kidney Disease 21
2514 c MCR114 Microphthalmia, Isolated 3 21
2515 LMB014 Limb-Body Wall Complex 21
2516 ART030 Aortic Arch Interruption 21
2517 DPL009 Duplication of the Pituitary Gland 21
2518 ACR019 Acropectoral Syndrome 21
2519 c RTS002 Ritscher-Schinzel Syndrome 2 21
2520 48X002 48,xxxy Syndrome 21
2521 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 21
2522 SCH025 Schisis Association 21
2523 c ADM012 Adams-Oliver Syndrome 6 21
2524 c MLG149 Malignant Hyperthermia 3 21
2525 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
2526 c MLG148 Malignant Hyperthermia 2 21
2527 HYP212 Hypomandibular Faciocranial Dysostosis 21
2528 c DMN020 Diamond-Blackfan Anemia 8 21
2529 c MLT078 Multiple Synostoses Syndrome 3 21
2530 c BRC099 Brachydactyly, Type A4 21
2531 c WRD022 Waardenburg Syndrome, Type 2d 21
2532 MSM019 Mesomelic Dysplasia, Savarirayan Type 21
2533 PRR029 Pierre Robin Syndrome and Oligodactyly 21
2534 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 21
2535 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 21
2536 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
2537 c PLY136 Polydactyly, Preaxial I 21
2538 EKN001 Eiken Syndrome 21
2539 TTR021 Tetrasomy 21 21
2540 c FNC061 Fanconi Anemia, Complementation Group W 21
2541 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 21
2542 c FNC025 Fanconi Anemia, Complementation Group J 21
2543 c TRC071 Treacher Collins Syndrome 3 21
2544 ODN020 Odontoma-Dysphagia Syndrome 21
2545 DRM041 Dermoid Cysts, Familial Frontonasal 21
2546 YHV001 You-Hoover-Fong Syndrome 21
2547 c PRV018 Periventricular Nodular Heterotopia 7 21
2548 ACH039 Achalasia-Microcephaly Syndrome 21
2549 c HLP022 Holoprosencephaly 8 21
2550 c ORF027 Orofacial Cleft 11 21
2551 FCC002 Faciocardiorenal Syndrome 20
2552 c ADM008 Adams-Oliver Syndrome 3 20
2553 SMM003 Summitt Syndrome 20
2554 CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 20
2555 c MTR083 Mitral Valve Prolapse 3 20
2556 NSD003 Nasodigitoacoustic Syndrome 20
2557 NNN007 Non-Involuting Congenital Hemangioma 20
2558 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 20
2559 INT231 Intellectual Disability - Athetosis - Microphthalmia 20
2560 c FNC057 Fanconi Anemia, Complementation Group U 20
2561 c AML047 Amelogenesis Imperfecta, Type Ia 20
2562 CTR027 Cataract-Glaucoma 20
2563 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
2564 KNS006 Kniest-Like Dysplasia, Lethal 20
2565 RTH002 Rutherfurd Syndrome 20
2566 P CNG070 Congenital Dislocation of the Patella 20
2567 BLP009 Blepharonasofacial Malformation Syndrome 20
2568 THR032 Thoracolaryngopelvic Dysplasia 20
2569 8P2002 8p23.1 Duplication Syndrome 20
2570 TBT001 Tabatznik Syndrome 20
2571 ERM001 Ermine Phenotype 20
2572 c DMN028 Diamond-Blackfan Anemia 12 20
2573 c AML048 Amelogenesis Imperfecta, Type Ih 20
2574 c PRX066 Peroxisome Biogenesis Disorder 3b 20
2575 MCR119 Microtia, Hearing Impairment, and Cleft Palate 20
2576 MCD004 Macdermot-Winter Syndrome 20
2577 c FNC058 Fanconi Anemia, Complementation Group R 20
2578 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 20
2579 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 20
2580 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 20
2581 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
2582 MZB001 Mazabraud Syndrome 20
2583 CMB084 Combined Oxidative Phosphorylation Deficiency 34 20
2584 INT095 Internal Carotid Agenesis 20
2585 PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 20
2586 c FNC052 Fanconi Anemia, Complementation Group T 20
2587 SCH031 Scholte Syndrome 20
2588 c TRC073 Treacher Collins Syndrome 2 20
2589 c MLG150 Malignant Hyperthermia 4 20
2590 RDR002 Rodrigues Blindness 20
2591 HYD053 Hydrocephalus with Associated Malformations 20
2592 TBL027 Tubulinopathy-Associated Dysgyria 20
2593 ATK002 Atkin-Flaitz Syndrome 20
2594 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 19
2595 c JVN025 Juvenile Primary Osteoporosis 19
2596 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 19
2597 c FNC056 Fanconi Anemia, Complementation Group V 19
2598 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 19
2599 SND006 Sonoda Syndrome 19
2600 c CHR464 Chronic Intestinal Failure 19
2601 CRN076 Crane-Heise Syndrome 19
2602 c AML050 Amelogenesis Imperfecta, Type if 19
2603 1Q4001 1q44 Microdeletion Syndrome 19
2604 CHR416 Chromosome 17q Deletion 19
2605 MLT148 Multiple Pterygium Syndrome, X-Linked 19
2606 SPS192 Spastic Paraparesis and Deafness 19
2607 c PRV016 Periventricular Nodular Heterotopia 6 19
2608 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 19
2609 c AML018 Amelogenesis Imperfecta, Type Ic 19
2610 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 19
2611 c RTH005 Rothmund-Thomson Syndrome Type 2 19
2612 48X005 48,xyyy 19
2613 c ZMM003 Zimmermann-Laband Syndrome 2 19
2614 ULN005 Ulna and Fibula, Hypoplasia of 19
2615 CHR457 Chromosome 17p13.1 Deletion Syndrome 19
2616 HYP489 Hypotrichosis-Deafness Syndrome 19
2617 CLB018 Coloboma of Eyelid 19
2618 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 19
2619 c RNG006 Ring Chromosome 11 19
2620 BRN125 Branchiogenic-Deafness Syndrome 19
2621 DFF027 Diffuse Lymphatic Malformation 19
2622 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 19
2623 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 19
2624 c BRC035 Brachydactyly Type A5 19
2625 FCC003 Faciocardiomelic Dysplasia, Lethal 19
2626 P PRX064 Peroxisome Biogenesis Disorder 2b 19
2627 c FBR030 Fibrochondrogenesis 2 19
2628 c VSC046 Vesicoureteral Reflux 8 19
2629 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
2630 PLD002 Pilodental Dysplasia with Refractive Errors 19
2631 CHN040 Choanal Atresia and Lymphedema 19
2632 APH015 Aphalangy with Hemivertebrae 19
2633 c MLG151 Malignant Hyperthermia 5 19
2634 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 19
2635 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 19
2636 c RNL099 Renal Hypodysplasia/aplasia 2 19
2637 c HYD040 Hydrolethalus Syndrome 2 19
2638 c RNG025 Ring Chromosome 9 19
2639 49X005 49, Xxxyy Syndrome 19
2640 c ANX008 Anauxetic Dysplasia 2 18
2641 c ORF052 Orofaciodigital Syndrome Xviii 18
2642 NNG002 Non-Gestational Ovarian Choriocarcinoma 18
2643 THR033 Thoracomelic Dysplasia 18
2644 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 18
2645 HMR016 Humeroradioulnar Synostosis 18
2646 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 18
2647 c ORF051 Orofaciodigital Syndrome Xvii 18
2648 MTC100 Metacarpal 4-5 Fusion 18
2649 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 18
2650 SCL051 Scalp Defects and Postaxial Polydactyly 18
2651 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 18
2652 DBL007 Double Outlet Left Ventricle 18
2653 BRC100 Brachydactyly, Combined B and E Types 18
2654 P CHR200 Chromosome 16 Trisomy 18
2655 BMR004 Beemer Lethal Malformation Syndrome 18
2656 19P001 19p13.12 Microdeletion Syndrome 18
2657 LSS034 Lissencephaly Type Iii and Bone Dysplasia 18
2658 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
2659 ZCH002 Zechi-Ceide Syndrome 18
2660 c CRN068 Corneal Endothelial Dystrophy Type 2 18
2661 c ANT087 Anterior Segment Dysgenesis 6 18
2662 DYS180 Dyschondrosteosis and Nephritis 18
2663 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 18
2664 c PRX068 Peroxisome Biogenesis Disorder 7b 18
2665 c ANT067 Anterior Segment Dysgenesis 8 18
2666 c PNC105 Pancreatic Agenesis 2 18
2667 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
2668 SPN349 Spondylometaphyseal Dysplasia, Type A4 18
2669 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 18
2670 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 18
2671 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 18
2672 SPN353 Spondylometaphyseal Dysplasia, X-Linked 18
2673 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
2674 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 18
2675 c HYP517 Hypoplastic Left Heart Syndrome 2 18
2676 c ORF047 Orofacial Cleft 15 18
2677 c MTR077 Mitral Valve Prolapse 2 18
2678 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness