Fetal Diseases Category (4397 diseases)


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

# Family MCID Name MIFTS
1 HYD038 Hydrops Fetalis, Nonimmune 39
2 HYD012 Hydrops Fetalis 43
3 MCR078 Microphthalmia Microtia Fetal Akinesia 15
4 P EMB005 Embryonal Rhabdomyosarcoma 52
5 MTH070 Methimazole Antenatal Exposure 16
6 ACT091 Acitretin Embryopathy 4
7 FTL007 Fetal Hydantoin Syndrome 34
8 VLP001 Valproate Embryopathy, Susceptibility to 37
9 IST007 Isotretinoin Embryopathy-Like Syndrome 20
10 c FTL006 Fetal Alcohol Spectrum Disorder 43
11 EMB006 Embryonal Testis Carcinoma 23
12 P CNT003 Central Nervous System Embryonal Carcinoma 18
13 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 13
14 PRP094 Propylthiouracil Embryofetopathy 5
15 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 4
16 HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 20
17 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
18 PRS030 Persistent Fetal Circulation Syndrome 39
19 P PNT019 Pontocerebellar Hypoplasia 38
20 GRM001 Germ Cell and Embryonal Cancer 38
21 c PNT029 Pontocerebellar Hypoplasia Type 2d 36
22 c PNT034 Pontocerebellar Hypoplasia, Type 2e 36
23 OVR050 Ovarian Embryonal Carcinoma 36
24 c PNT010 Pontocerebellar Hypoplasia Type 1 33
25 c PNT037 Pontocerebellar Hypoplasia, Type 3 30
26 c PNT022 Pontocerebellar Hypoplasia Type 2a 30
27 c PNT013 Pontocerebellar Hypoplasia Type 4 30
28 c PNT018 Pontocerebellar Hypoplasia, Type 1b 30
29 c PNT017 Pontocerebellar Hypoplasia Type 1a 29
30 c PNT014 Pontocerebellar Hypoplasia Type 5 28
31 c PNT032 Pontocerebellar Hypoplasia, Type 9 26
32 c PNT033 Pontocerebellar Hypoplasia, Type 10 26
33 c PNT020 Pontocerebellar Hypoplasia Type 2b 26
34 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
35 c PNT039 Pontocerebellar Hypoplasia, Type 7 23
36 c PNT021 Pontocerebellar Hypoplasia Type 2c 23
37 c PNT035 Pontocerebellar Hypoplasia, Type 1c 23
38 c PNT042 Pontocerebellar Hypoplasia, Type 2f 20
39 CHL026 Childhood Ovarian Embryonal Carcinoma 16
40 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
41 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 9
42 CHL043 Childhood Embryonal Testis Carcinoma 8
43 c TSN001 Tsen2-Related Pontocerebellar Hypoplasia 8
44 c TSN002 Tsen34-Related Pontocerebellar Hypoplasia 8
45 FTL004 Fetal Erythroblastosis 32
46 IST006 Isotretinoin Syndrome 27
47 AMN013 Aminopterin/methotrexate Embryofetopathy 16
48 ACT206 Acitretin/etretinate Embryopathy 6
49 P TXP001 Toxoplasmosis 60
50 c CNG021 Congenital Toxoplasmosis 52
51 CCN007 Cocoon Syndrome 39
52 PRG092 Pregnancy Loss, Recurrent 1 31
53 DSL003 Dias-Logan Syndrome 18
54 P PRM239 Preimplantation Embryonic Lethality 16
55 P FTL001 Fetal Alcohol Syndrome 53
56 RHB020 Rhabdomyosarcoma, Somatic 24
57 FTL029 Fetal Thalidomide Syndrome 23
58 P CTR002 Cataract 57
59 c CTR130 Cataract 9, Multiple Types 40
60 c CTR129 Cataract 31, Multiple Types 39
61 c CTR115 Cataract 16, Multiple Types 38
62 c CTR141 Cataract 21, Multiple Types 38
63 c CTR118 Cataract 14, Multiple Types 38
64 c CTR098 Cataract 1, Multiple Types 38
65 c CTR132 Cataract 3, Multiple Types 35
66 c CTR125 Cataract 7 35
67 c CTR145 Cataract 44 35
68 c CTR095 Cataract 8, Multiple Types 34
69 c CTR096 Cataract 6, Multiple Types 34
70 c CTR102 Cataract 2, Multiple Types 34
71 c CTR103 Cataract 4, Multiple Types 33
72 c CTR121 Cataract 25 33
73 c CTR122 Cataract 5, Multiple Types 32
74 c CTR113 Cataract 11, Multiple Types 32
75 c CTR124 Cataract 10, Multiple Types 31
76 c CTR167 Cataract 22 28
77 c CTR134 Cataract 23 28
78 c CTR158 Cataract 37 26
79 c CTR131 Cataract 17, Multiple Types 26
80 c CTR136 Cataract 41 26
81 c CTR165 Cataract 19, Multiple Types 25
82 c CTR111 Cataract 36 25
83 c CTR116 Cataract 15, Multiple Types 24
84 c CTR104 Cataract 18, Autosomal Recessive 24
85 c CTR106 Cataract 20, Multiple Types 24
86 c CTR166 Cataract 33, Multiple Types 22
87 c CTR160 Cataract 45 22
88 c CTR105 Cataract 12, Multiple Types 22
89 c CTR144 Cataract 43 22
90 c CTR139 Cataract 42 22
91 c CTR109 Cataract 38, Autosomal Recessive 21
92 c CTR101 Cataract 39, Multiple Types, Autosomal Dominant 21
93 FTL062 Fetal Iodine Deficiency Disorder 20
94 c CTR128 Cataract 33 19
95 c CTR163 Cataract 46, Juvenile-Onset 19
96 ORB002 Orbit Embryonal Rhabdomyosarcoma 19
97 c CTR159 Cataract 35 18
98 c CTR097 Cataract 34, Multiple Types 18
99 c CTR157 Cataract 28 18
100 c CTR119 Cataract 32, Multiple Types 18
101 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 18
102 PRS010 Prostate Embryonal Rhabdomyosarcoma 18
103 c CTR127 Cataract 19 17
104 c CTR110 Cataract 26, Multiple Types 17
105 MYC060 Mycophenolate Mofetil Embryopathy 16
106 c ADL007 Adult Central Nervous System Embryonal Carcinoma 15
107 c CTR040 Cataracts, Autosomal Recessive 14
108 c CTR025 Cataract, Total Congenital 13
109 PDT006 Pediatric Cns Embryonal Cell Carcinoma 12
110 CCN010 Cocaine Embryofetopathy 11
111 c CTR146 Cataract, Autosomal Dominant Congenital 4 11
112 c FX3002 Foxe3-Related Cataracts, Autosomal Dominant 9
113 c CTR008 Cataract Congenital Autosomal Dominant 7
114 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 6
115 HYD027 Hydrops Fetalis Anemia Immune Disorder Absent Thumb 2
116 HRP013 Herpetic Embryopathy 2
117 VTM006 Vitamin a Embryopathy 2
118 P PRS062 Persistent Hyperplastic Primary Vitreous 38
119 c RBN018 Robinow Syndrome, Autosomal Dominant 1 36
120 c RBN017 Robinow Syndrome, Autosomal Dominant 2 35
121 c RBN020 Robinow Syndrome, Autosomal Dominant 3 24
122 c RBN010 Robinow-Like Syndrome 13
123 FTL031 Fetal Warfarin Syndrome 11
124 c RHB021 Rhabdomyosarcoma, Embryonal, 2 24
125 INT041 Intratubular Embryonal Carcinoma 24
126 PRT001 Partial Fetal Alcohol Syndrome 19
127 FTL058 Fetal Trimethadione Syndrome 15
128 FTL026 Fetal Parvovirus Syndrome 14
129 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 14
130 c PRM251 Preimplantation Embryonic Lethality 2 10
131 P MCK022 Meckel Syndrome 1 54
132 FTL021 Fetal Macrosomia 41
133 c RBN009 Robinow Syndrome, Autosomal Recessive 41
134 c LTH007 Lethal Congenital Contracture Syndrome 1 39
135 BLS003 Blastoma 37
136 c ATS082 Autosomal Dominant Robinow Syndrome 29
137 c MCK017 Meckel Syndrome 4 27
138 c MCK024 Meckel Syndrome 3 27
139 c MCK025 Meckel Syndrome 2 26
140 c LTH027 Lethal Congenital Contracture Syndrome 5 26
141 c MCK016 Meckel Syndrome 6 25
142 c MCK015 Meckel Syndrome 7 24
143 P LTH003 Lethal Congenital Contracture Syndrome 24
144 c MCK019 Meckel Syndrome 5 24
145 c MCK026 Meckel Syndrome 12 23
146 c MCK018 Meckel Syndrome 8 21
147 c LTH039 Lethal Congenital Contracture Syndrome 11 21
148 c LTH031 Lethal Congenital Contracture Syndrome 6 20
149 PRX085 Preaxial Hallucal Polydactyly 20
150 c LTH026 Lethal Congenital Contracture Syndrome 4 20
151 c LTH029 Lethal Congenital Contracture Syndrome 9 19
152 c LTH032 Lethal Congenital Contracture Syndrome 7 19
153 c LTH030 Lethal Congenital Contracture Syndrome 8 19
154 c MCK021 Meckel Syndrome 9 18
155 FTL005 Fetal Adenoma 18
156 c MCK027 Meckel Syndrome 11 17
157 c MCK023 Meckel Syndrome 10 16
158 c DK7002 Dok7-Related Fetal Akinesia Deformation Sequence 16
159 c RPS002 Rapsn-Related Fetal Akinesia Deformation Sequence 16
160 c MCK028 Meckel Syndrome 13 16
161 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 16
162 FTL044 Fetal Cytomegalovirus Syndrome 15
163 FTL016 Fetal Edema 15
164 MXD015 Mixed Type Rhabdomyosarcoma 14
165 PRV001 Parovarian Cyst 14
166 c TCT005 Tctn2-Related Meckel Syndrome 13
167 c SPR105 Sporadic Fetal Brain Disruption Sequence 13
168 c B9D001 B9d1-Related Meckel Syndrome 12
169 c B9D002 B9d2-Related Meckel Syndrome 12
170 c TMM014 Tmem231-Related Meckel Syndrome 12
171 EMB014 Embryonary Disorganization Syndrome 11
172 FTL048 Fetal Lung Interstitial Tumor 11
173 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 10
174 c KF1003 Kif14-Related Meckel Syndrome 9
175 c CC2002 Cc2d2a-Related Meckel Syndrome 9
176 c RR2001 Ror2-Related Robinow Syndrome 8
177 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 7
178 c CP2004 Cep290-Related Meckel Syndrome 7
179 c MKS002 Mks1-Related Meckel Syndrome 7
180 c NPH041 Nphp3-Related Meckel Syndrome 7
181 c RPG002 Rpgrip1l-Related Meckel Syndrome 7
182 c TMM004 Tmem216-Related Meckel Syndrome 7
183 c TMM007 Tmem67-Related Meckel Syndrome 7
184 FTL020 Fetal Left Ventricular Aneurysm 6
185 FTL063 Fetal Nicotine Spectrum Disorder 6
186 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
187 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 6
188 LSS032 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome 5
189 FTL049 Fetal Carbamazepine Syndrome 4
190 HRD170 Hereditary Persistence of Fetal Hemoglobin, Klf1-Related 4
191 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 2
192 FTL027 Fetal Phenothiazine Syndrome 2
193 KPS004 Kaposi Sarcoma 67
194 P HYD006 Hydrocephalus 66
195 P CRN037 Craniosynostosis 65
196 P ANG001 Angelman Syndrome 62
197 P EHL001 Ehlers-Danlos Syndrome 61
198 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61
199 P CTS001 Cutis Laxa 60
200 P MCR010 Microcephaly 58
201 P INT063 Intellectual Disability 58
202 P LKD001 Leukodystrophy 56
203 c SPN294 Spinocerebellar Ataxia 1 56
204 c ART115 Aortic Valve Disease 1 55
205 P HYP613 Hypophosphatemic Rickets 55
206 P SPN301 Spinocerebellar Ataxia 2 55
207 P BRC006 Brachydactyly 55
208 P PLY006 Polydactyly 54
209 MGL013 Megalencephaly 53
210 P SMP003 Simpson-Golabi-Behmel Syndrome 53
211 ANG020 Angiosarcoma 52
212 OLG003 Oligohydramnios 52
213 P MLT007 Multiple Epiphyseal Dysplasia 52
214 c SPN293 Spinocerebellar Ataxia 12 52
215 ART002 Arts Syndrome 52
216 OMP004 Omphalocele 51
217 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 51
218 c CWD006 Cowden Syndrome 1 51
219 c SPN291 Spinocerebellar Ataxia 7 51
220 P NNT009 Neonatal Diabetes Mellitus 51
221 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51
222 P PRS049 Persistent Mullerian Duct Syndrome 50
223 c SPN314 Spinocerebellar Ataxia 10 50
224 c MCL062 Mucolipidosis Ii Alpha/beta 50
225 c SPN312 Spinocerebellar Ataxia 14 49
226 P LSS002 Lissencephaly 48
227 c HYP293 Hypophosphatasia, Adult 48
228 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
229 c MCP038 Mucopolysaccharidosis Iva 48
230 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
231 c MCP040 Mucopolysaccharidosis-Plus Syndrome 48
232 P ENC008 Encephalocele 48
233 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
234 P SHR001 Short Bowel Syndrome 47
235 c EHL054 Ehlers-Danlos Syndrome, Type Vi 47
236 NNT012 Neonatal Jaundice 47
237 c SPN296 Spinocerebellar Ataxia 17 47
238 CHR005 Chorioamnionitis 47
239 c SPN309 Spinocerebellar Ataxia 6 47
240 P SYR001 Syringomyelia 47
241 PLY012 Polyhydramnios 46
242 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
243 HYP135 Hypophosphatemic Rickets with Hypercalciuria 46
244 NWB001 Newborn Respiratory Distress Syndrome 46
245 c ATS275 Autosomal Recessive Primary Microcephaly 46
246 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46
247 PLC007 Placental Abruption 46
248 c USH035 Usher Syndrome Type 2 45
249 c SPN311 Spinocerebellar Ataxia 13 45
250 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 45
251 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 45
252 c USH032 Usher Syndrome, Type 2a 45
253 RDL002 Radioulnar Synostosis 45
254 OGD001 Ogden Syndrome 45
255 GLL032 Galloway-Mowat Syndrome 45
256 P EPT020 Epithelioid Hemangioendothelioma 45
257 CLF004 Cleft Lip/palate 45
258 HYP347 Hypotonia-Cystinuria Syndrome 45
259 c SPN305 Spinocerebellar Ataxia 11 44
260 P CRN074 Coronary Artery Aneurysm 44
261 c SPN290 Spinocerebellar Ataxia 15 44
262 DND001 Dandy-Walker Syndrome 44
263 P INF016 Infantile Epileptic Encephalopathy 44
264 c SPN100 Spinocerebellar Ataxia 27 44
265 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44
266 c SPN308 Spinocerebellar Ataxia 28 44
267 BRT030 Birth Defects 44
268 P MCP012 Mucopolysaccharidosis Ih 44
269 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 43
270 c HYP292 Hypophosphatasia, Infantile 43
271 c MCR256 Microphthalmia, Syndromic 9 43
272 MCR165 Microphthalmia with Limb Anomalies 43
273 HRT030 Hartsfield Syndrome 43
274 TMP012 Temple Syndrome 43
275 P ART084 Arteriovenous Fistula 43
276 c EHL018 Ehlers-Danlos Syndrome Type Ii 42
277 c USH008 Usher Syndrome, Type 1d 42
278 BMF001 Bamforth-Lazarus Syndrome 42
279 c SPN304 Spinocerebellar Ataxia 8 42
280 ANM001 Anemia of Prematurity 42
281 PLC001 Placenta Accreta 42
282 c SPN265 Spinocerebellar Ataxia 36 42
283 P VSC013 Visceral Heterotaxy 42
284 WRS002 Warsaw Breakage Syndrome 42
285 c USH034 Usher Syndrome, Type 2d 41
286 c ART120 Arthrogryposis, Distal, Type 3 41
287 c USH007 Usher Syndrome, Type 1c 41
288 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
289 MDN005 Mednik Syndrome 41
290 HNN001 Hennekam Syndrome 41
291 3PS001 3p- Syndrome 41
292 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
293 c SPN106 Spinocerebellar Ataxia 5 40
294 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
295 P ANT073 Anterior Segment Dysgenesis 1, Multiple Subtypes 40
296 c USH012 Usher Syndrome, Type 2c 40
297 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 40
298 c MCL016 Mucolipidosis Iii Gamma 40
299 c PLY057 Polydactyly, Postaxial, Types A1 and B 40
300 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 40
301 c TYP003 Type I Ehlers-Danlos Syndrome 39
302 MCR103 Microtia 39
303 P ART018 Aortic Valve Insufficiency 39
304 TRM011 Terminal Osseous Dysplasia 39
305 GLS018 Glass Syndrome 39
306 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
307 c SPN103 Spinocerebellar Ataxia 31 39
308 VTR016 Vater/vacterl Association 39
309 CHR386 Chromosome 6pter-P24 Deletion Syndrome 39
310 c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 39
311 BFD003 Bifid Uvula 39
312 c PRM212 Primary Microcephaly 39
313 c PFF007 Pfeiffer Syndrome Type 1 38
314 c MNS014 Monosomy 22 38
315 PLL008 Pallister-Killian Syndrome 38
316 c USH022 Usher Syndrome, Type 1g 38
317 RCK007 Rickets, Vitamin D-Resistant, Type Iia 38
318 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 38
319 c MCR261 Microphthalmia, Syndromic 2 38
320 c SPN097 Spinocerebellar Ataxia 23 38
321 EPS026 Epispadias 38
322 c ART117 Arthrogryposis, Distal, Type 2b 38
323 P PRT042 Parietal Foramina 38
324 c USH010 Usher Syndrome, Type 1f 37
325 c SPN094 Spinocerebellar Ataxia 18 37
326 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 37
327 c CNG413 Congenital Short Bowel Syndrome 37
328 c OPT050 Opitz Gbbb Syndrome, Type Ii 37
329 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 37
330 P JVN008 Juvenile Glaucoma 37
331 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 37
332 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 37
333 c OVR075 Ovarian Dysgenesis 1 37
334 PLM013 Pulmonary Immaturity 37
335 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 37
336 SPL040 Split Hand 36
337 SML028 Semilobar Holoprosencephaly 36
338 P CRC039 Coarctation of Aorta 36
339 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 36
340 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
341 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
342 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 35
343 P MXD016 Mixed Gonadal Dysgenesis 35
344 P MNN007 Meningocele 35
345 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
346 c CNG216 Congenital Hydrocephalus 35
347 VNM003 Van Maldergem Syndrome 1 35
348 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 35
349 CHM006 Chime Syndrome 35
350 OPT054 Opitz-Kaveggia Syndrome 35
351 c CRN278 Craniosynostosis 1 35
352 NNT004 Neonatal Respiratory Failure 35
353 c ART061 Arthrogryposis, Distal, Type 2a 34
354 c SPN099 Spinocerebellar Ataxia 26 34
355 ALB014 Alobar Holoprosencephaly 34
356 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
357 c MCP036 Mucopolysaccharidosis Ih/s 34
358 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
359 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
360 P LSS024 Lissencephaly with Cerebellar Hypoplasia 34
361 P SPL050 Split Hand-Split Foot Malformation 34
362 LBR025 Lobar Holoprosencephaly 34
363 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
364 MND025 Mandibulofacial Dysostosis with Alopecia 34
365 c SPN299 Spinocerebellar Ataxia 20 34
366 CHN065 Choanal Atresia, Posterior 33
367 c ATS076 Autosomal Recessive Stickler Syndrome 33
368 c MCP015 Mucopolysaccharidosis Type Ix 33
369 P OVR076 Ovarian Dysgenesis 2 33
370 c SPN096 Spinocerebellar Ataxia 21 33
371 SPL039 Split Foot 33
372 c SPN105 Spinocerebellar Ataxia 4 33
373 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 33
374 c CRN277 Craniosynostosis 2 33
375 CLF028 Cleft Soft Palate 33
376 STL007 Steel Syndrome 33
377 BRC004 Brachydactyly-Syndactyly Syndrome 33
378 c SPN095 Spinocerebellar Ataxia 19 33
379 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 33
380 P GLP001 Geleophysic Dysplasia 33
381 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 33
382 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
383 MLY006 Molybdenum Cofactor Deficiency a 33
384 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
385 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 33
386 c SPN266 Spinocerebellar Ataxia 35 32
387 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32
388 c PRM032 Primary Congenital Glaucoma 32
389 c OPT051 Opitz Gbbb Syndrome, Type I 32
390 P DXT004 Dextro-Looped Transposition of the Great Arteries 32
391 c PRS068 Persistent Mullerian Duct Syndrome, Type Ii 32
392 c HRD086 Hereditary Hypophosphatemic Rickets 32
393 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 32
394 c PRN053 Porencephaly 1 32
395 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
396 MCR096 Macrocephaly/autism Syndrome 32
397 CHR377 Chromosome 10q26 Deletion Syndrome 32
398 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32
399 c WLL027 Weill-Marchesani Syndrome 1, Recessive 32
400 c KNB004 Knobloch Syndrome, Type 1 32
401 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 32
402 P CMM008 Communicating Hydrocephalus 32
403 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 31
404 P KNB001 Knobloch Syndrome 31
405 MCR173 Microform Holoprosencephaly 31
406 CTR112 Cataract 30, Pulverulent 31
407 c STS007 Sotos Syndrome 2 31
408 CHR382 Chromosome 18q Deletion Syndrome 31
409 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
410 GLM012 Glomuvenous Malformations 31
411 EHL060 Ehlers-Danlos Syndrome Due to Tenascin X Deficiency 31
412 c CNG379 Congenital Disorder of Glycosylation, Type It 31
413 c ANT068 Anterior Segment Dysgenesis 2, Multiple Subtypes 31
414 c EHL029 Ehlers-Danlos Syndrome, Cardiac Valvular Form 31
415 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
416 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
417 SPN331 Spondyloocular Syndrome 31
418 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 30
419 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
420 c WLL026 Weill-Marchesani Syndrome 2, Dominant 30
421 c SCK009 Seckel Syndrome 1 30
422 c MTR051 Maternal Uniparental Disomy of Chromosome 1 30
423 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 30
424 CHR501 Chromosome 17q12 Deletion Syndrome 30
425 c SPN104 Spinocerebellar Ataxia 34 30
426 c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 30
427 CHR387 Chromosome Xp21 Deletion Syndrome 30
428 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30
429 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 30
430 PLC009 Placenta Praevia 30
431 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30
432 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
433 LCT005 Lacticacidemia Due to Pdx1 Deficiency 30
434 MCR183 Microcephaly-Capillary Malformation Syndrome 30
435 c SCK033 Seckel Syndrome 8 29
436 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 29
437 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 29
438 NNT005 Neonatal Candidiasis 29
439 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
440 c LSS010 Lissencephaly 4 29
441 c CNG188 Congenital Disorder of Glycosylation, Type if 29
442 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 29
443 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 29
444 c SCK010 Seckel Syndrome 4 29
445 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 29
446 OSC001 Oeis Complex 29
447 c GLP003 Geleophysic Dysplasia 1 29
448 c CRN256 Craniosynostosis 6 29
449 c MCR252 Microphthalmia, Syndromic 5 29
450 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29
451 CRP025 Corpus Callosum, Partial Agenesis of 29
452 ALG027 Al-Gazali-Bakalinova Syndrome 29
453 c SCK011 Seckel Syndrome 5 29
454 SPT016 Septopreoptic Holoprosencephaly 29
455 c RBN008 Rubinstein-Taybi Syndrome 2 28
456 ISL109 Isolated Cleft Lip 28
457 ACR021 Aica-Ribosiduria Due to Atic Deficiency 28
458 c EHL041 Ehlers-Danlos Syndrome, Type Vii 28
459 c CRN217 Craniosynostosis 3 28
460 P ACR093 Acrofrontofacionasal Dysostosis 28
461 c HTR010 Heterotaxy, Visceral, 4, Autosomal 28
462 c SPN098 Spinocerebellar Ataxia 25 28
463 P MCR099 Microlissencephaly 28
464 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28
465 c HTR008 Heterotaxy, Visceral, 5 28
466 CLB026 Colobomatous Microphthalmia 28
467 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 28
468 c SYN084 Synpolydactyly 1 28
469 SPN012 Spindle Cell Hemangioma 28
470 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
471 c CWD008 Cowden Syndrome 6 28
472 NRN022 Neurenteric Cyst 28
473 PRP093 Pierpont Syndrome 28
474 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 28
475 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
476 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
477 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 28
478 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27
479 DST008 Diastematomyelia 27
480 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
481 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
482 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
483 PLM151 Pulmonary Arteriovenous Fistulas 27
484 c TRS012 Trisomy 22 27
485 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 27
486 P BRC003 Brachyolmia 27
487 FCL064 Facial Dysmorphism with Multiple Malformations 27
488 DNT045 Dental Anomalies and Short Stature 27
489 GRM003 German Syndrome 27
490 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 27
491 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
492 P SCL047 Sclerocornea 27
493 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 27
494 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27
495 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
496 c USH030 Usher Syndrome, Type Ik 27
497 c GLP004 Geleophysic Dysplasia 2 27
498 PRT043 Parietal Foramina with Cleidocranial Dysplasia 27
499 c USH031 Usher Syndrome, Type Ij 27
500 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
501 c SPN286 Spinocerebellar Ataxia 40 27
502 VND005 Van Den Ende-Gupta Syndrome 27
503 c PFF011 Pfeiffer Syndrome Type 2 27
504 MLT153 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, with or Without Congenital Heart Defects 26
505 THR017 Thoracoabdominal Syndrome 26
506 CLL036 Culler-Jones Syndrome 26
507 c STC012 Stickler Syndrome, Type Iv 26
508 P OMD003 Omodysplasia 26
509 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
510 P SYN064 Syndromic X-Linked Intellectual Disability 26
511 RHM015 Rhombencephalosynapsis 26
512 SPN180 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 26
513 HMF009 Hemifacial Hyperplasia 26
514 MLL011 Mullerian Aplasia and Hyperandrogenism 26
515 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
516 ATR063 Atrial Septal Defect 7, with or Without Av Conduction Defects 26
517 P PLM064 Pulmonary Sequestration 26
518 c ACQ027 Acquired Cutis Laxa 26
519 ISL011 Isolated Aniridia 26
520 RGH006 Right Aortic Arch 26
521 c BRC062 Brachydactyly, Type D 26
522 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 26
523 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
524 c SPN284 Spinocerebellar Ataxia 38 26
525 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 26
526 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
527 HYP591 Hypoplastic or Aplastic Tibia with Polydactyly 26
528 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
529 c USH026 Usher Syndrome Type 3b 26
530 LRY022 Laryngoonychocutaneous Syndrome 26
531 c CRN281 Craniosynostosis 7 26
532 ISL062 Isolated Plagiocephaly 26
533 CHR366 Chromosome 5p13 Duplication Syndrome 26
534 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
535 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
536 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
537 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 26
538 c CWD004 Cowden Syndrome 5 26
539 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
540 c FRN033 Frontonasal Dysplasia 2 26
541 c OVR102 Ovarian Dysgenesis 3 26
542 c PFF009 Pfeiffer Syndrome Type 3 26
543 c LSS009 Lissencephaly 3 25
544 c SCK015 Seckel Syndrome 2 25
545 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
546 c OVR107 Ovarian Dysgenesis 4 25
547 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 25
548 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 25
549 UNV002 Univentricular Heart 25
550 P TRS029 Trisomy 1q 25
551 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25
552 WTT002 Witteveen-Kolk Syndrome 25
553 HMH004 Hemihyperplasia, Isolated 25
554 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
555 LBN004 Liebenberg Syndrome 25
556 c MNS008 Monosomy 21 25
557 c CRN229 Corneal Dystrophy, Posterior Polymorphous 2 25
558 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
559 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 25
560 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 25
561 ISL096 Isolated Klippel-Feil Syndrome 25
562 TTT001 Tatton-Brown-Rahman Syndrome 25
563 BRC074 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 25
564 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
565 c MCR212 Microphthalmia, Syndromic 12 25
566 c SPN372 Spinocerebellar Ataxia 43 25
567 TRC007 Tricuspid Valve Prolapse 25
568 ISL061 Isolated Brachycephaly 25
569 CRB147 Cerebellofaciodental Syndrome 25
570 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 25
571 c CWD003 Cowden Syndrome 2 25
572 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
573 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
574 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
575 HYP674 Hyperostosis Cranialis Interna 24
576 HYP679 Hypoglossia-Hypodactylia 24
577 c ERL012 Early-Onset Glaucoma 24
578 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 24
579 c CTS041 Cutis Laxa, Autosomal Dominant 3 24
580 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 24
581 c STC011 Stickler Syndrome, Type V 24
582 c PRT059 Parietal Foramina 1 24
583 c SPN247 Spinocerebellar Ataxia Type 19/22 24
584 PLY110 Polymicrogyria, Bilateral Temporooccipital 24
585 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 24
586 BNB002 Bainbridge-Ropers Syndrome 24
587 c ART104 Arthrogryposis, Distal, Type 5d 24
588 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
589 c BRC052 Brachydactyly, Type B2 24
590 CLF049 Cleft Lip and Alveolus 24
591 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 24
592 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 24
593 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24
594 c WLL011 Weill-Marchesani-Like Syndrome 24
595 CHR399 Chromosome 4q21 Deletion Syndrome 24
596 MLY005 Molybdenum Cofactor Deficiency B 24
597 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24
598 c EPP009 Epiphyseal Dysplasia, Multiple, 6 24
599 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
600 CRT069 Cortical Malformations, Occipital 24
601 CRN049 Craniolenticulosutural Dysplasia 24
602 ATR055 Atrial Septal Aneurysm 24
603 P NNT006 Neonatal Myasthenia Gravis 24
604 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 24
605 c CRN216 Craniosynostosis 5 24
606 c SYN078 Syndromic X-Linked Intellectual Disability Type 10 24
607 ALZ030 Alazami Syndrome 24
608 GRW028 Growth Retardation, Developmental Delay, Facial Dysmorphism 24
609 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
610 DGT002 Digital Clubbing, Isolated Congenital 24
611 TTR014 Tetrasomy 18p 24
612 c SPN102 Spinocerebellar Ataxia 30 23
613 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 23
614 P KNN002 Kenny-Caffey Syndrome 23
615 c EPP012 Epiphyseal Dysplasia, Multiple, 2 23
616 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 23
617 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 23
618 CHR487 Chromosome 8q21.11 Deletion Syndrome 23
619 MGL026 Megalocornea 1, X-Linked 23
620 c SPN283 Spinocerebellar Ataxia 37 23
621 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 23
622 c SPN383 Spinocerebellar Ataxia 42 23
623 CRN200 Craniosynostosis and Dental Anomalies 23
624 PRT101 Poretti-Boltshauser Syndrome 23
625 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 23
626 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 23
627 c CWD007 Cowden Syndrome 3 23
628 c MCR228 Microphthalmia, Syndromic 13 23
629 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 23
630 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
631 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23
632 OCC011 Occipital Encephalocele 23
633 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
634 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
635 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 23
636 c HYP320 Hypophosphatemic Rickets, Ar 23
637 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 23
638 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
639 VGN031 Vaginal Atresia 23
640 PHK008 Phakomatosis Cesioflammea 23
641 PRM206 Premature Aging Syndrome, Penttinen Type 23
642 c FNG009 Feingold Syndrome 2 23
643 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 23
644 ANG062 Angioosteohypertrophic Syndrome 23
645 c CWD005 Cowden Syndrome 4 23
646 CRN197 Coronary Arterial Fistulas 23
647 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
648 ISL089 Isolated Scaphocephaly 23
649 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 23
650 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
651 c DBT065 Diabetes Mellitus, Transient Neonatal 2 23
652 PNL023 Penile Agenesis 23
653 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 23
654 MCR325 Microcephaly, Short Stature, and Polymicrogyria with Seizures 23
655 P PST016 Posterior Polar Cataract 23
656 c MCR217 Microphthalmia, Syndromic 11 23
657 c BSL030 Basal Encephalocele 23
658 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 23
659 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 22
660 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 22
661 c CTR123 Cataract 24, Anterior Polar 22
662 P ART034 Aortopulmonary Window 22
663 PTL010 Patella Aplasia-Hypoplasia 22
664 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
665 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
666 ADD006 Adducted Thumbs Syndrome 22
667 MYL044 Myelocystocele 22
668 c PRT060 Parietal Foramina 2 22
669 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
670 c SCK029 Seckel Syndrome 7 22
671 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
672 c FRN032 Frontonasal Dysplasia 3 22
673 P SPN237 Spina Bifida Aperta 22
674 c BRC075 Brachydactyly, Type A1, C 22
675 c HTR009 Heterotaxy, Visceral, 2, Autosomal 22
676 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
677 ASS004 Aase-Smith Syndrome I 22
678 LVY002 Levy-Shanske Syndrome 22
679 WLL012 Williams-Beuren Region Duplication Syndrome 22
680 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
681 c ANT074 Anterior Segment Dysgenesis 5, Multiple Subtypes 22
682 c WLL025 Weill-Marchesani Syndrome 3, Recessive 22
683 c ART122 Arthrogryposis, Distal, Type 8 22
684 TRC029 Trichodontoosseous Syndrome 22
685 KLP011 Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 22
686 UTR054 Uterine Hypoplasia 22
687 c CTS031 Cutis Laxa, Autosomal Dominant 2 22
688 MYP038 Myopathy, Congenital, Compton-North 22
689 BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 22
690 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 22
691 P OTP001 Otopalatodigital Syndrome 22
692 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
693 CRS011 Criss-Cross Heart 22
694 CHR502 Chromosome 17q12 Duplication Syndrome 22
695 c HTR018 Heterotaxy, Visceral, 7, Autosomal 22
696 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 22
697 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
698 c PTR018 Paternal Uniparental Disomy of Chromosome 6 21
699 c BRC060 Brachydactyly, Type E2 21
700 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 21
701 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
702 c FRN037 Frontal Encephalocele 21
703 MCR226 Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 21
704 c ACR103 Acrofrontofacionasal Dysostosis 1 21
705 STP005 Stapes Ankylosis with Broad Thumb and Toes 21
706 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 21
707 c ANT072 Anterior Segment Dysgenesis 3, Multiple Subtypes 21
708 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 21
709 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
710 TRB005 Traboulsi Syndrome 21
711 TTR019 Tetrasomy 5p 21
712 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 21
713 P TRC031 Trichorhinophalangeal Syndrome 21
714 CNG489 Congenital Herpes Simplex Virus Infection 21
715 ISL087 Isolated Oxycephaly 21
716 MCR221 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 21
717 c PST057 Postaxial Polydactyly, Type A2 21
718 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
719 c BRC080 Brachydactyly, Type A1, B 21
720 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
721 MLY007 Molybdenum Cofactor Deficiency C 21
722 CHR483 Chromosome 3q13.31 Deletion Syndrome 21
723 LMB069 Lamb-Shaffer Syndrome 21
724 c BRC053 Brachyolmia Type 2 21
725 SBB001 Sbbyss Syndrome 21
726 c PRN047 Porencephaly 2 21
727 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
728 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 21
729 ACR101 Acrocraniofacial Dysostosis 21
730 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
731 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21
732 c MLG145 Malignant Epithelioid Hemangioendothelioma 20
733 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
734 DPR014 Diprosopus 20
735 BRN129 Branchial Cleft Anomalies 20
736 ULN023 Ulnar Hypoplasia 20
737 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
738 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 20
739 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 20
740 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 20
741 ART069 Arthrogryposis, Lethal, with Anterior Horn Cell Disease 20
742 c LTH015 Lethal Congenital Contractural Syndrome 3 20
743 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
744 P ZYG003 Zygodactyly 1 20
745 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20
746 c HTR013 Heterotaxy, Visceral, 6, Autosomal Recessive 20
747 c GLC054 Glaucoma 3, Primary Congenital, D 20
748 c SPN323 Spinocerebellar Ataxia 41 20
749 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 20
750 XSM001 X Small Rings 20
751 CHR362 Chromosome 17q21.31 Duplication Syndrome 20
752 c FML302 Familial Schizencephaly, Shh-Related 20
753 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 20
754 CRV066 Cervical Aortic Arch 20
755 c EHL065 Ehlers-Danlos Syndrome, Type V 20
756 DSN002 Desanto-Shinawi Syndrome 20
757 SPR065 Supernumerary Nostril 20
758 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 20
759 CLF005 Cleft Palate with Ankyloglossia 20
760 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 20
761 c SPN324 Spondylocostal Dysostosis 6 20
762 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 20
763 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
764 MSL005 Mseleni Joint Disease 20
765 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
766 P ERL043 Early-Onset Nuclear Cataract 20
767 CRN264 Craniosynostosis with Fibular Aplasia 20
768 CHR379 Chromosome 15q26-Qter Deletion Syndrome 20
769 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 20
770 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 20
771 c SCK032 Seckel Syndrome 6 19
772 YNH001 Yuan-Harel-Lupski Syndrome 19
773 MNS012 Monostotic Fibrous Dysplasia 19
774 SPN329 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 19
775 c FCL056 Facial Paresis, Hereditary Congenital, 3 19
776 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 19
777 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 19
778 6QT002 6q Terminal Deletion Syndrome 19
779 SNG008 Singleton-Merten Dysplasia 19
780 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 19
781 INT276 Interatrial Communication 19
782 MDL016 Midline Cervical Cleft 19
783 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19
784 SCR035 Sacral Agenesis with Vertebral Anomalies 19
785 c CWD009 Cowden Syndrome 7 19
786 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 19
787 P ACR072 Acrorenal Syndrome 19
788 c BRC105 Brachydactyly, Type A1, D 19
789 HRR005 Harrod Syndrome 19
790 MLR023 Melorheostosis, Isolated 19
791 CLF034 Cleft Hard Palate 19
792 ALP085 Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 19
793 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 19
794 c STC007 Stickler Syndrome, Type 3 19
795 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19
796 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 19
797 2Q3005 2q31.1 Microdeletion Syndrome 19
798 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 19
799 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 19
800 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 19
801 DYS134 Dysspondyloenchondromatosis 19
802 CHR393 Chromosome 19p13.13 Deletion Syndrome 19
803 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 19
804 c ART060 Arthrogryposis, Distal, Type 1b 19
805 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 19
806 ESS005 Essential Iris Atrophy 19
807 P RNG028 Ring Chromosome Y 19
808 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 19
809 c TRN035 Transposition of Great Arteries, Dextro-Looped 3 19
810 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 18
811 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 18
812 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 18
813 PLM116 Pulmonary Artery Hypoplasia 18
814 DST059 Distal Trisomy 17q 18
815 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
816 EPP011 Epiphyseal Chondrodysplasia, Miura Type 18
817 c ANT070 Anterior Segment Dysgenesis 6, Multiple Subtypes 18
818 P ACR020 Acropectorovertebral Dysplasia 18
819 CHR612 Chromosome 15q14 Deletion Syndrome 18
820 c PRM060 Primary Autosomal Recessive Microcephaly Type 2 18
821 CMP039 Camptodactyly 1 18
822 CRV062 Cervical Spina Bifida Cystica 18
823 LVC002 Levocardia 18
824 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
825 CHR567 Chromosome 5q12 Deletion Syndrome 18
826 c ART131 Arthrogryposis, Distal, Type 4 18
827 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 18
828 CRV063 Cervical Spina Bifida Aperta 18
829 TTL008 Total Spina Bifida Cystica 18
830 LMB056 Lumbosacral Spina Bifida Cystica 18
831 HYP307 Hypertrichosis, Congenital Generalized 18
832 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 18
833 c TTL009 Total Spina Bifida Aperta 18
834 c SCK038 Seckel Syndrome 10 18
835 TRN017 Transient Neonatal Neutropenia 18
836 TRG019 Trigonocephaly with Short Stature and Developmental Delay 18
837 CMB063 Combined Oxidative Phosphorylation Deficiency 25 18
838 c STS009 Sotos Syndrome 3 18
839 P MNS011 Monosomy 9q22.3 18
840 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 18
841 CHR397 Chromosome Xp11.3 Deletion Syndrome 18
842 c SCK037 Seckel Syndrome 9 18
843 c GLC083 Glaucoma 3, Primary Infantile, B 18
844 SYN037 Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses 18
845 c SPN259 Spinocerebellar Ataxia 32 18
846 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
847 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 18
848 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 18
849 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 18
850 CHR582 Chromosome 3q29 Duplication Syndrome 18
851 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 18
852 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 18
853 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 18
854 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 18
855 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
856 SZR021 Seizures, Cortical Blindness, Microcephaly Syndrome 17
857 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 17
858 c RNG024 Ring Chromosome 8 17
859 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 17
860 TTR018 Tetragametic Chimerism 17
861 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 17
862 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 17
863 c SPN107 Spinocerebellar Ataxia 9 17
864 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 17
865 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 17
866 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 17
867 THR085 Thoracolumbosacral Spina Bifida Aperta 17
868 LMB057 Lumbosacral Spina Bifida Aperta 17
869 CRV064 Cervicothoracic Spina Bifida Aperta 17
870 CRV061 Cervicothoracic Spina Bifida Cystica 17
871 UPP007 Upper Thoracic Spina Bifida Cystica 17
872 c LSS035 Lissencephaly 8 17
873 UPP008 Upper Thoracic Spina Bifida Aperta 17
874 THR084 Thoracolumbosacral Spina Bifida Cystica 17
875 DST044 Distal Trisomy 14q 17
876 ISL084 Isolated Trigonocephaly 17
877 MZB001 Mazabraud Syndrome 17
878 OPH014 Ophthalmomandibulomelic Dysplasia 17
879 MCR310 Microgastria-Limb Reduction Defects Association 17
880 c BRC033 Brachydactyly Type A3 17
881 3P2001 3p25.3 Microdeletion Syndrome 17
882 CNG243 Congenital Subglottic Stenosis 17
883 MSM018 Mesomelic Limb Shortening and Bowing 17
884 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 17
885 11Q001 11q22.2q22.3 Microdeletion Syndrome 17
886 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 17
887 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 17
888 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 17
889 ABS016 Absence of the Pulmonary Artery 17
890 TRC114 Trichodental Dysplasia 17
891 CLF047 Cleft-Limb-Heart Malformation Syndrome 17
892 CRN266 Craniofacial Dyssynostosis with Short Stature 17
893 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 17
894 CRN224 Craniofaciofrontodigital Syndrome 17
895 c MTR063 Maternal Uniparental Disomy of Chromosome 2 17
896 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 17
897 HYP683 Hypogonadism-Cataract Syndrome 17
898 CNS013 Constricting Bands, Congenital 17
899 PLV015 Pelvis-Shoulder Dysplasia 17
900 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 17
901 c PST093 Posterior Hypospadias 17
902 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 17
903 c BRC069 Brachydactyly of Toes 17
904 DST036 Distal Trisomy 15q 17
905 CNG491 Congenital Portosystemic Shunt 17
906 6Q1001 6q16 Deletion Syndrome 17
907 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 17
908 c SYN056 Syndromic X-Linked Intellectual Disability 7 17
909 THY105 Thyrocerebroretinal Syndrome 16
910 MCR307 Microspherophakia-Metaphyseal Dysplasia 16
911 8PN001 8p Inverted Duplication/deletion Syndrome 16
912 c SYN040 Synpolydactyly 3 16
913 FCL047 Facial Clefting, Oblique, 1 16
914 c SPN336 Spinocerebellar Ataxia Type 16 16
915 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 16
916 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 16
917 7P2001 7p22.1 Microduplication Syndrome 16
918 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 16
919 UPP009 Upper Limb Hypertrophy 16
920 AML037 Amelia of Upper Limb 16
921 c EFM001 Efemp2-Related Cutis Laxa 16
922 RPD005 Rapidly Involuting Congenital Hemangioma 16
923 8P1001 8p11.2 Deletion Syndrome 16
924 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 16
925 c FCL030 Facial Paresis, Hereditary Congenital, 1 16
926 c HYD042 Hydrocephalus, Autosomal Dominant 16
927 DST045 Distal Trisomy 6p 16
928 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 16
929 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 16
930 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 16
931 LWR014 Lower Limb Hypertrophy 16
932 c MCR312 Microphthalmia, Syndromic 10 16
933 TRN068 Transketolase Deficiency 16
934 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 16
935 WLL029 Williams-Campbell Syndrome 16
936 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 16
937 ATY022 Atypical Coarctation of Aorta 16
938 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 16
939 ANR037 Aneurysm or Dilatation of Ascending Aorta 16
940 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 16
941 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 16
942 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 16
943 OCL070 Oculopalatocerebral Syndrome 16
944 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 16
945 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 16
946 DBL010 Double-Orifice Mitral Valve 16
947 14Q001 14q12 Microdeletion Syndrome 16
948 XLN198 X-Linked Diffuse Leiomyomatosis-Alport Syndrome 16
949 c APR009 Aprosencephaly Syndrome 16
950 CLF033 Cleft Mitral Valve 16
951 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
952 16P003 16p13.11 Microdeletion Syndrome 16
953 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
954 DST055 Distal 22q11.2 Microduplication Syndrome 16
955 MNS013 Monosomy 13q34 16
956 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 16
957 P HRD043 Hereditary Congenital Facial Paresis 16
958 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 15
959 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 15
960 DST061 Distal Xq28 Microduplication Syndrome 15
961 c HTR020 Heterotaxy, Visceral, 8, Autosomal 15
962 FRY007 Fryns Macrocephaly 15
963 DST037 Distal Monosomy 9p 15
964 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 15
965 MCR302 Macrostomia, Isolated 15
966 c TRN062 Transient Neonatal Myasthenia Gravis 15
967 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
968 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 15
969 TYS007 Tyshchenko Syndrome 15
970 ACC011 Accessory Mitral Valve Tissue 15
971 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 15
972 XP2002 Xp22.13p22.2 Duplication Syndrome 15
973 DDL001 Didelphys Uterus 15
974 GRB002 Gerbode Defect 15
975 ECT085 Ectopia Cordis 15
976 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 15
977 CRB164 Cerebrooculonasal Syndrome 15
978 RDL022 Radial Hemimelia 15
979 MMM002 Mammary-Digital-Nail Syndrome 15
980 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 15
981 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 15
982 CRL006 Caroli Disease, Isolated 15
983 20Q001 20q13.33 Microdeletion Syndrome 15
984 DRM038 Dermotrichic Syndrome 15
985 PLY088 Polyvalvular Heart Disease Syndrome 15
986 c ALD008 Aldh18a1-Related Cutis Laxa 15
987 DST035 Distal Trisomy 18q 15
988 c PTR011 Paternal Uniparental Disomy of Chromosome 1 15
989 FBL014 Fibular Hemimelia 15
990 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 15
991 1P2001 1p21.3 Microdeletion Syndrome 15
992 P MTR057 Maternal Uniparental Disomy of Chromosome X 15
993 DYS135 Dysphagia Lusoria 15
994 ESP040 Esophageal Duplication Cyst 15
995 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 15
996 UNL006 Unilateral Focal Polymicrogyria 15
997 LNG081 Longitudinal Vaginal Septum 15
998 OCL057 Oculotrichodysplasia 15
999 ILL003 Illum Syndrome 15
1000 CHR623 Chromosome 8-Derived Supernumerary Ring/marker 15
1001 c MTR067 Maternal Uniparental Disomy of Chromosome 16 15
1002 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
1003 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 15
1004 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 15
1005 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 15
1006 HGH026 High Anorectal Malformation 15
1007 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 15
1008 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 14
1009 NND003 Non-Distal Trisomy 10q 14
1010 c CNG346 Congenital Aortic Valve Insufficiency 14
1011 SHN001 Shone Complex 14
1012 CNG347 Congenital Tricuspid Stenosis 14
1013 AML053 Amelia, Autosomal Recessive 14
1014 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 14
1015 P PRX038 Preaxial Polydactyly of Toes 14
1016 CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 14
1017 ART091 Aorto-Ventricular Tunnel 14
1018 ACR109 Acropectororenal Dysplasia 14
1019 6P2001 6p22 Microdeletion Syndrome 14
1020 CMM018 Common Mesentery 14
1021 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 14
1022 CRY026 Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome 14
1023 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 14
1024 THM021 Thumb Deformity and Alopecia 14
1025 c OTP002 Otopalatodigital Spectrum Disorders 14
1026 HYP727 Hypoglossia with Situs Inversus 14
1027 CHM001 Cahmr Syndrome 14
1028 c SCN048 Secondary Syringomyelia 14
1029 KMM002 Kommerell Diverticulum 14
1030 10Q002 10q22.3q23.3 Microduplication Syndrome 14
1031 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 14
1032 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 14
1033 CNS012 Cono-Spondylar Dysplasia 14
1034 WHB001 Wahab Syndrome 14
1035 MSC081 Mosaic Trisomy 15 14
1036 c MTR062 Maternal Uniparental Disomy of Chromosome 4 14
1037 ART095 Aortic Valve Atresia 14
1038 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 14
1039 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 14
1040 c EPS036 Epstein-Barr Virus, Susceptibility to Chronic Infection by 14
1041 DST038 Distal Monosomy 7q36 14
1042 DRL001 Dural Sinus Malformation 14
1043 INF021 Infant Gynecomastia 14
1044 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 14
1045 P CNG326 Congenital Primary Megaureter 14
1046 CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 14
1047 PRS111 Persistent Fifth Aortic Arch 14
1048 49X004 49,xyyyy Syndrome 14
1049 NSL017 Nasolacrimal Duct Cyst 14
1050 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 14
1051 c GLC089 Glaucoma 3, Primary Congenital, E 14
1052 c GLC032 Glaucoma, Hereditary 14
1053 c CNG343 Congenital Coronary Artery Aneurysm 14
1054 PLY092 Polydactyly of a Triphalangeal Thumb, Bilateral 14
1055 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 14
1056 20Q003 20q11.2 Microdeletion Syndrome 14
1057 INT295 Intellectual Disability-Polydactyly-Uncombable Hair Syndrome 14
1058 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 14
1059 NND005 Non-Distal Trisomy 13q 14
1060 DLT013 Deletion 5q35 14
1061 CNG284 Congenital Pseudoarthrosis of the Tibia 14
1062 c PLY101 Polydactyly, Postaxial, Type A6 14
1063 HLL014 Hallux Varus and Preaxial Polysyndactyly 13
1064 c MTR061 Maternal Uniparental Disomy of Chromosome 6 13
1065 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 13
1066 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 13
1067 CNG330 Congenital Megacalycosis 13
1068 c PFF008 Pfeiffer Syndrome Type 1, 2 and 3 13
1069 c USH016 Usher Syndrome Type 1h 13
1070 TRN046 Transverse Vaginal Septum 13
1071 LMB064 Limb Transversal Defect-Cardiac Anomaly Syndrome 13
1072 SBM006 Submucosal Cleft Palate 13
1073 HYP497 Hyperphalangy 13
1074 MCR186 Microtriplication 11q24.1 13
1075 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 13
1076 LRS009 Larsen-Like Syndrome, Lethal Type 13
1077 CRN207 Coronary Sinus Stenosis 13
1078 c CTR100 Cataract 27, Nuclear Progressive 13
1079 LGB002 Leg, Absence Deformity of, with Congenital Cataract 13
1080 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 13
1081 XLN186 X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome 13
1082 DST071 Distal Monosomy 19p13.3 13
1083 ATS182 Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly 13
1084 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 13
1085 c PRT113 Parietal Foramina 3 13
1086 PLY091 Polydactyly of a Triphalangeal Thumb, Unilateral 13
1087 16P004 16p13.11 Microduplication Syndrome 13
1088 DST082 Distal Trisomy 10q 13
1089 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 13
1090 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 13
1091 c SYN082 Syndromic X-Linked Intellectual Disability 14 13
1092 TRP023 Triphalangeal Thumbs and Dislocation of Patella 13
1093 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 13
1094 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 13
1095 XQ1001 Xq12-Q13.3 Duplication Syndrome 13
1096 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 13
1097 ENC040 Encephalopathy Due to Sulfite Oxidase Deficiency 13
1098 CLV012 Clavicle, Pseudarthrosis of, Congenital 13
1099 ANR045 Aneurysm of Interventricular Septum 13
1100 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 13
1101 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 13
1102 RTF001 Retiform Hemangioendothelioma 13
1103 CNT080 Central Polydactyly of Fingers 13
1104 P CNG327 Congenital Epstein-Barr Virus Infection 13
1105 APR008 Aprosencephaly and Cerebellar Dysgenesis 13
1106 TBL017 Tibial Hemimelia, Bilateral 13
1107 CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 13
1108 CMP077 Composite Hemangioendothelioma 13
1109 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 12
1110 c PRM168 Primary Syringomyelia 12
1111 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 12
1112 c LTB003 Ltbp4-Related Cutis Laxa 12
1113 c SPN122 Spondylocostal Dysostosis 2 12
1114 UNL005 Unilateral Polymicrogyria 12
1115 CMP079 Complete Septate Uterus 12
1116 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 12
1117 IDP062 Idiopathic Syringomyelia 12
1118 PTN009 Patent Urachus 12
1119 P PST079 Postaxial Polydactyly of Toes 12
1120 16P005 16p11.2p12.2 Microduplication Syndrome 12
1121 c SPN123 Spondylocostal Dysostosis 3 12
1122 c CNG253 Congenital Communicating Hydrocephalus 12
1123 XLN145 X-Linked Intellectual Disability, Pai Type 12
1124 RCT033 Rectal Duplication 12
1125 CRN192 Craniorhiny 12
1126 c FCL050 Facial Paresis, Hereditary Congenital, 2 12
1127 RDL018 Radial Hemimelia, Unilateral 12
1128 RDL017 Radial Hemimelia, Bilateral 12
1129 LWR015 Lower Limb Deficiency-Hypospadias Syndrome 12
1130 ANR041 Aniridia-Intellectual Disability Syndrome 12
1131 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12
1132 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 12
1133 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 12
1134 c CNG455 Congenital Aortopulmonary Window 12
1135 CNG252 Congenital Non-Communicating Hydrocephalus 12
1136 CHR498 Chromosome 16p11.2 Duplication Syndrome 12
1137 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 12
1138 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 12
1139 ISL030 Isolated Cerebellar Hypoplasia/agenesis 12
1140 INT219 Intramural Coronary Arterial Course 12
1141 DST052 Distal 7q11.23 Microduplication Syndrome 12
1142 5Q3001 5q35 Microduplication Syndrome 12
1143 CRN204 Craniofacial Conodysplasia 12
1144 RDL031 Radial Aplasia, X-Linked 12
1145 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 12
1146 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 12
1147 CMP084 Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome 12
1148 ACH028 Acheiria 12
1149 SBR012 Subaortic Stenosis, Membranous 12
1150 c DLL001 Dll3-Related Spondylocostal Dysostosis, Autosomal Recessive 12
1151 RGH010 Right Ventricular Hypoplasia, Isolated 12
1152 FRS011 First Branchial Cleft Anomaly 12
1153 c KRN003 Kernicterus Due to Isoimmunization 12
1154 c CNG476 Congenital Systemic Arteriovenous Fistula 12
1155 c FGF004 Fgfr2-Related Craniosynostosis 12
1156 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
1157 CNG235 Congenital Microgastria 12
1158 XLN209 X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome 12
1159 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 12
1160 P PTR015 Paternal Uniparental Disomy of Chromosome X 12
1161 MSC086 Mesocardia 12
1162 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 12
1163 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 12
1164 ANN015 Anonychia with Flexural Pigmentation 12
1165 c TWS001 Twist1-Related Craniosynostosis 12
1166 NND004 Non-Distal Monosomy 10q 12
1167 c SCN046 Secondary Short Bowel Syndrome 12
1168 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 12
1169 c RHZ009 Rhizomelic Chondrodysplasia Punctata Spectrum 12
1170 NSL020 Nasal Glial Heterotopia 12
1171 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 12
1172 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
1173 XLN142 X-Linked Intellectual Disability, Stevenson Type 12
1174 CLF040 Cleft Lip-Retinopathy Syndrome 12
1175 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 12
1176 ERL036 Early-Onset Posterior Subcapsular Cataract 11
1177 c CNT079 Central Polydactyly of Toes 11
1178 46X015 46,xy Ovotesticular Disorder of Sex Development 11
1179 SYM014 Symbrachydactyly of Hands and Feet 11
1180 MTR050 Maternal Hyperthermia Induced Birth Defects 11
1181 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 11
1182 13Q001 13q12.3 Microdeletion Syndrome 11
1183 c HTR012 Heterotaxy, Visceral, 3, Autosomal 11
1184 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
1185 PRM160 Premature Closure of the Arterial Duct 11
1186 c NDL015 Nodal-Related Visceral Heterotaxy 11
1187 P XKP001 Xk Aprosencephaly 11
1188 CNG335 Congenital Ectropion Uveae 11
1189 ATR053 Atresia of Urethra 11
1190 c ACQ029 Acquired Porencephaly 11
1191 RNN006 Reunion Island Larsen Syndrome 11
1192 MND008 Mandibular Arteriovenous Malformation 11
1193 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 11
1194 TRN045 True Unicornuate Uterus 11
1195 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 11
1196 ART097 Aorto-Left Ventricular Tunnel 11
1197 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 11
1198 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
1199 c SCL053 Sclerocornea, Autosomal Dominant 11
1200 ISL069 Isolated Micropenis 11
1201 NSL021 Nasal Encephalocele 11
1202 PRT087 Parietal Encephalocele 11
1203 c CRN112 Craniosynostosis, Nonsyndromic 11
1204 c MSX001 Msx2-Related Craniosynostosis 11
1205 c CL1002 Col11a2-Related Stickler Syndrome 11
1206 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 11
1207 c ZC3001 Zic3-Related Visceral Heterotaxy 11
1208 VRR008 Verrucous Hemangioma 11
1209 c SYN050 Syndactyly Type 6 11
1210 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 11
1211 BRC068 Brachydactyly of Fingers 11
1212 c PLY103 Polydactyly, Postaxial, Type A5 11
1213 URC012 Urachal Sinus 11
1214 CRN194 Cranial Meningocele 11
1215 CNT077 Central Bilateral Macrogyria 11
1216 P ANT062 Anterior Urethral Valve 11
1217 AML035 Amelia of Upper Limb, Bilateral 11
1218 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 11
1219 PTR012 Paternal 14q32.2 Microdeletion Syndrome 11
1220 c PYC002 Pycr1-Related Cutis Laxa 11
1221 SPL043 Split Hand, Bilateral 10
1222 c ZYG007 Zygodactyly Type 3 10
1223 c MLT030 Multiple Epiphyseal Dysplasia, Dominant 10
1224 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 10
1225 LWN002 Low Anorectal Malformation 10
1226 HND012 Handigodu Joint Disease 10
1227 CRV060 Cervical Dermoid Cyst 10
1228 c CL1001 Col11a1-Related Stickler Syndrome 10
1229 RTR022 Retrocerebellar Cyst 10
1230 MTR055 Maternal 14q32.2 Microdeletion Syndrome 10
1231 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 10
1232 URC013 Urachal Diverticulum 10
1233 c CNG257 Congenital Pulmonary Sequestration 10
1234 c PLY144 Polydactyly, Postaxial, Type A7 10
1235 CNG357 Congenital Symblepharon 10
1236 ULN014 Ulnar Hemimelia 10
1237 KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 10
1238 c NNS028 Nonsyndromic Hydrocephalus, Ccdc88c-Related 10
1239 MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 10
1240 c CL9001 Col9a1-Related Multiple Epiphyseal Dysplasia 10
1241 c CL9003 Col9a2-Related Multiple Epiphyseal Dysplasia 10
1242 c MCR100 Microlissencephaly I 10
1243 P VCT008 Vacterl with Hydrocephalus 10
1244 PHK006 Phakomatosis Pigmentokeratotica 10
1245 MCR184 Macrodactyly of Fingers 10
1246 c CL2002 Col2a1-Related Stickler Syndrome 10
1247 c CL9002 Col9a1-Related Stickler Syndrome 10
1248 c CL9004 Col9a2-Related Stickler Syndrome 10
1249 CNG244 Congenital Laryngeal Cyst 10
1250 c CSK002 Cask-Related Intellectual Disability 10
1251 INT254 Intermediate Anorectal Malformation 10
1252 CNG506 Congenital Amyoplasia 10
1253 c HS7001 Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive 10
1254 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 10
1255 c ZYG006 Zygodactyly Type 2 10
1256 c ATS065 Autosomal Dominant Coarctation of Aorta 10
1257 TRC105 Tracheo-Esophageal Fistula-Hypospadias Syndrome 10
1258 FMR013 Femoral Agenesis/hypoplasia 10
1259 FRT004 Fourth Branchial Cleft Anomaly 10
1260 MLC004 Mulchandani-Bhoj-Conlin Syndrome 10
1261 c ISC013 Isochromosomy Yq 10
1262 DYS176 Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome 10
1263 c HVP001 Hivep2-Related Intellectual Disability 10
1264 GLS016 Glossopalatine Ankylosis 9
1265 c PRD024 Prader-Willi Syndrome Due to Translocation 9
1266 ART130 Arthrogryposis with Hyperkeratosis 9
1267 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
1268 ART098 Aorto-Right Ventricular Tunnel 9
1269 PRS112 Persistent Eustachian Valve 9
1270 HMR042 Humero-Ulnar Synostosis 9
1271 c TCF002 Tcf12-Related Craniosynostosis 9
1272 c MSP002 Mesp2-Related Spondylocostal Dysostosis, Autosomal Recessive 9
1273 FBL017 Fibular Dimelia-Diplopodia Syndrome 9
1274 c NNS036 Nonsyndromic Hydrocephalus, Mpdz-Related 9
1275 P BLT016 Bilateral Polymicrogyria 9
1276 c CL9005 Col9a3-Related Multiple Epiphyseal Dysplasia 9
1277 c PST083 Postaxial Polydactyly Type a, Bilateral 9
1278 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 9
1279 DST089 Distal Trisomy 3p 9
1280 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 9
1281 c HYP545 Hypospadias 3, Autosomal 9
1282 c GLC052 Glaucoma 3, Primary Congenital, C 9
1283 c SPN121 Spondylocostal Dysostosis 1 9
1284 CNG282 Congenital Knee Dislocation 9
1285 CNG318 Congenital Genu Recurvatum 9
1286 BLP040 Blepharoptosis-Cleft Palate-Ectrodactyly-Dental Anomalies Syndrome 9
1287 c FBL003 Fbln5-Related Cutis Laxa 9
1288 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 9
1289 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 9
1290 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 9
1291 c LTB002 Ltbp2-Related Weill-Marchesani Syndrome 9
1292 APD003 Apodia 9
1293 MTR056 Maternal 14q32.2 Hypermethylation Syndrome 9
1294 PRM238 Primary Intralymphatic Angioendothelioma 9
1295 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 9
1296 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 9
1297 AML036 Amelia of Lower Limb 9
1298 c ZYG005 Zygodactyly Type 4 9
1299 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1300 TRC110 Tracheobronchial Stenosis, Congenital 9
1301 CNG281 Congenital Elbow Dislocation 9
1302 RTN189 Retinal Capillary Malformation 9
1303 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 9
1304 P RBN007 Rubinstein Taybi Like Syndrome 9
1305 JXT004 Juxtaposition of the Atrial Appendages 8
1306 CRN261 Craniosynostosis-Cataract Syndrome 8
1307 SVR087 Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion 8
1308 c ZC1001 Zic1-Related Craniosynostosis 8
1309 c LFN001 Lfng-Related Spondylocostal Dysostosis, Autosomal Recessive 8
1310 c RPP005 Ripply2-Related Spondylocostal Dysostosis, Autosomal Recessive 8
1311 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 8
1312 LBR027 Laubry-Pezzi Syndrome 8
1313 c LRY051 Laryngotracheoesophageal Cleft Type 1 8
1314 P LRY049 Laryngotracheoesophageal Cleft Type 4 8
1315 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 8
1316 c JVN036 Juvenile Sialidosis Type 2 8
1317 c CNG348 Congenital Sialidosis Type 2 8
1318 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 8
1319 c ACV001 Acvr2b-Related Visceral Heterotaxy 8
1320 c CFC002 Cfc1-Related Visceral Heterotaxy 8
1321 c BRC101 Brachyolmia 4 8
1322 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 8
1323 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 8
1324 c FBN002 Fbn1-Related Weill-Marchesani Syndrome 8
1325 c TBB006 Tubb4a-Related Leukodystrophy 8
1326 P CRD218 Cardiac-Valvular Ehlers-Danlos Syndrome 8
1327 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 8
1328 c SYN073 Syngap1-Related Intellectual Disability 8
1329 c USH011 Usher Syndrome, Type 2b 8
1330 c GRD008 Grid2-Related Spinocerebellar Ataxia 8
1331 PLR014 Pleuro-Pericardial Cyst 8
1332 ACC010 Accessory Tricuspid Valve Tissue 8
1333 CNG290 Congenital Absence of Both Lower Leg and Foot 8
1334 CNG277 Congenital Pseudoarthrosis of the Fibula 8
1335 PSD091 Pseudounicornuate Uterus 8
1336 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 8
1337 c ERL039 Early-Onset Anterior Polar Cataract 8
1338 MSC078 Mosaic Trisomy 17 8
1339 c MMP003 Mmp21-Related Visceral Heterotaxy 8
1340 c SPN124 Spondylocostal Dysostosis 4 8
1341 c FGF003 Fgfr1-Related Craniosynostosis 8
1342 c ABC012 Abcc8-Related Transient Neonatal Diabetes Mellitus 2 8
1343 ART099 Aortic Valve Dysplasia 8
1344 CRN208 Coronary Sinus Atresia 8
1345 c ERF001 Erf-Related Craniosynostosis 8
1346 DGS007 Digestive Duplication 8
1347 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 8
1348 PRN048 Prenatal Benign Hypophosphatasia 8
1349 ISC011 Ischio-Vertebral Syndrome 8
1350 CNG289 Congenital Absence/hypoplasia of Thumb 8
1351 SPL042 Split Hand, Unilateral 8
1352 CNG287 Congenital Absence of Both Forearm and Hand 8
1353 CNT083 Central Polydactyly of Fingers, Bilateral 8
1354 TBF001 Tibio-Fibular Synostosis 8
1355 MXL013 Maxillary Arteriovenous Malformation 8
1356 c ACR046 Acropectorovertebral Dysplasia F Form 8
1357 c PLY054 Polydactyly, Postaxial, Type A4 8
1358 c PLY053 Polydactyly, Postaxial, Type A3 8
1359 c EP3001 Ep300-Related Rubinstein-Taybi Syndrome 8
1360 c SX2003 Six2-Related Frontonasal Dysplasia 7
1361 TNN014 Tunnel Subaortic Stenosis 7
1362 c HXD001 Hoxd13-Related Brachydactyly 7
1363 c CYP002 Cyp1b1-Related Primary Congenital Glaucoma 7
1364 c ELN002 Eln-Related Cutis Laxa 7
1365 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 7
1366 MGC005 Megacystis-Megaureter Syndrome 7
1367 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 7
1368 ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 7
1369 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 7
1370 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 7
1371 SCL050 Scoliosis, Arachnodactyly, and Blindness 7
1372 c PPP001 Ppp2r5d-Related Intellectual Disability 7
1373 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
1374 OKH001 Okihiro Syndrome Due to a Point Mutation 7
1375 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
1376 PHK009 Phakomatosis Cesiomarmorata 7
1377 c SYN077 Syndromic X-Linked Intellectual Disability 12 7
1378 c PST077 Posterior Meningocele 7
1379 SPL045 Split Foot, Bilateral 7
1380 BPR001 Bipartite Talus 7
1381 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 7
1382 ISL029 Isolated Anorectal Malformation 7
1383 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 7
1384 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 7
1385 LWM001 Low Implantation of Placenta 7
1386 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
1387 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 7
1388 ADC007 Adactyly of Foot 7
1389 HMR031 Humeral Agenesis/hypoplasia 7
1390 CNG283 Congenital Pseudoarthrosis of the Femur 7
1391 CNG278 Congenital Pseudoarthrosis of the Radius 7
1392 CNG279 Congenital Pseudoarthrosis of the Ulna 7
1393 DST085 Distal Trisomy 2q 7
1394 DST076 Distal Trisomy 13q 7
1395 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 7
1396 3Q2006 3q27.3 Microdeletion Syndrome 7
1397 c CRB084 Crebbp-Related Rubinstein-Taybi Syndrome 7
1398 MSC089 Mosaic Monosomy X 7
1399 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 7
1400 c PRD034 Prader-Willi-Like Syndrome Due to Point Mutation 7
1401 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 7
1402 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 6
1403 DNC006 Diencephalic-Mesencephalic Junction Dysplasia 6
1404 CNG314 Congenital Absence/hypoplasia of Fingers Excluding Thumb, Bilateral 6
1405 PRX040 Preaxial Polydactyly of Toes, Unilateral 6
1406 PRX039 Preaxial Polydactyly of Toes, Bilateral 6
1407 HYP500 Hyperphalangy, Unilateral 6
1408 MCR292 Microcephaly-Cleft Palate Syndrome 6
1409 DST090 Distal Trisomy 2p 6
1410 3Q2004 3q26 Microduplication Syndrome 6
1411 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 6
1412 ATS109 Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita 6
1413 CRD171 Cordiform Uterus 6
1414 AGN009 Agenesis and Aplasia of Uterine Body 6
1415 c MCP021 Mecp2-Related Angelman-Like Syndrome 6
1416 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
1417 PHK010 Phakomatosis Spilorosea 6
1418 4P1001 4p16.3 Microduplication Syndrome 6
1419 MSC080 Mosaic Trisomy 12 6
1420 c MTR064 Maternal Uniparental Disomy of Chromosome 22 6
1421 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 6
1422 c GPC001 Gpc3-Related Simpson-Golabi-Behmel Syndrome Type 1 6
1423 c GPC002 Gpc4-Related Simpson-Golabi-Behmel Syndrome Type 1 6
1424 PRC042 Parachute Tricuspid Valve 6
1425 c SPN274 Spondylocostal Dysostosis 5, Autosomal Dominant 6
1426 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1427 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
1428 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
1429 P ISL048 Isolated Cerebellar Vermis Agenesis 6
1430 MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 6
1431 INT186 Intralobar Congenital Pulmonary Sequestration 6
1432 EXT047 Extralobar Congenital Pulmonary Sequestration 6
1433 ULN012 Ulnar Hemimelia, Bilateral 6
1434 CNG313 Congenital Absence/hypoplasia of Thumb, Unilateral 6
1435 CNG312 Congenital Absence/hypoplasia of Thumb, Bilateral 6
1436 SPL044 Split Foot, Unilateral 6
1437 PLY095 Polysyndactyly, Unilateral 6
1438 PLY094 Polysyndactyly, Bilateral 6
1439 CNT082 Central Polydactyly of Fingers, Unilateral 6
1440 CNT085 Central Polydactyly of Toes, Unilateral 6
1441 CNT084 Central Polydactyly of Toes, Bilateral 6
1442 HYP501 Hyperphalangy, Bilateral 6
1443 RDL019 Radio-Ulnar Synostosis, Unilateral 6
1444 RDL020 Radio-Ulnar Synostosis, Bilateral 6
1445 ISL088 Isolated Congenital Anonychia 6
1446 DST080 Distal Trisomy 4q 6
1447 DST078 Distal Trisomy 6q 6
1448 DST083 Distal Trisomy 9q 6
1449 DST081 Distal Trisomy 11q 6
1450 DST057 Distal Trisomy 19q 6
1451 DST073 Distal Monosomy 7p 6
1452 DST066 Distal Monosomy 20q 6
1453 DST069 Distal Monosomy 12q 6
1454 DST058 Distal Monosomy 12p 6
1455 MCR185 Macrodactyly of Toes 6
1456 PRT111 Partial Septate Uterus 6
1457 c ANG058 Angelman Syndrome Due to a Point Mutation 6
1458 c LTB001 Ltbp2-Related Primary Congenital Glaucoma 6
1459 c ADM006 Adamts10-Related Weill-Marchesani Syndrome 6
1460 c MCR101 Microlissencephaly Ii 6
1461 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 6
1462 c TRR002 Trio-Related Intellectual Disability 6
1463 PLM147 Pulmonary Valve Agenesis-Ventricular Septal Defect-Persistent Ductus Arteriosus Syndrome 6
1464 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 6
1465 ECT057 Ectasia of the Right Atrial Appendage 6
1466 ECT056 Ectasia of the Left Appendage 6
1467 ISL034 Isolated Megalencephaly 6
1468 ACH030 Acheiria, Unilateral 6
1469 ACH029 Acheiria, Bilateral 6
1470 1P3003 1p35.2 Microdeletion Syndrome 6
1471 20P002 20p13 Microdeletion Syndrome 6
1472 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 6
1473 c PSD047 Pseudo-Turner Syndrome 6
1474 c CDK003 Cdkl5-Related Angelman-Like Syndrome 6
1475 c DCX002 Dcx-Related Lissencephaly 6
1476 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
1477 CNG334 Congenital Esophageal Diverticulum 6
1478 ISL108 Isolated Splenogonadal Fusion 6
1479 DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6
1480 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1481 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 6
1482 MDN007 Median Cleft Lip/mandibule 6
1483 14Q003 14q11.2 Microduplication Syndrome 6
1484 c PTR020 Paternal Uniparental Disomy of Chromosome 20 6
1485 3Q2005 3q26q27 Microdeletion Syndrome 6
1486 7Q3001 7q31 Microdeletion Syndrome 6
1487 DST054 Distal 17p13.3 Microdeletion Syndrome 6
1488 21Q001 21q22.11q22.12 Microdeletion Syndrome 6
1489 c KLF002 Kleefstra Syndrome Due to a Point Mutation 6
1490 c OFD003 Ofd1-Related Simpson-Golabi-Behmel Syndrome Type 2 6
1491 c PGR001 Piga-Related Simpson-Golabi-Behmel Syndrome Type 2 6
1492 c MCR102 Microlissencephaly Iii 6
1493 c VCT006 Vacterl with Hydrocephalus, Fancb-Related 6
1494 c LFT010 Lefty2-Related Visceral Heterotaxy 5
1495 c DBT021 Diabetes Mellitus, Kcnj11-Related Transient Neonatal 5
1496 c GLC029 Glaucoma Type 1c 5
1497 c ATS360 Autosomal Recessive Intellectual Disability 58 5
1498 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 5
1499 CRN206 Coronary Artery Intramyocardial Course 5
1500 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
1501 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 5
1502 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 5
1503 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 5
1504 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 5
1505 CLS029 Celosomia 5
1506 BLK004 Blake Pouch Cyst 5
1507 c ISL045 Isolated Focal Cortical Dysplasia Type I 5
1508 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 5
1509 P ISL038 Isolated Focal Cortical Dysplasia Type Ib 5
1510 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 5
1511 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 5
1512 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 5
1513 PTR027 Peters Anomaly-Cataract Syndrome 5
1514 RGR003 Regressive Spondylometaphyseal Dysplasia 5
1515 SVR046 Severe Lateral Tibial Bowing with Short Stature 5
1516 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 5
1517 FMR015 Femoral Agenesis/hypoplasia, Unilateral 5
1518 FMR014 Femoral Agenesis/hypoplasia, Bilateral 5
1519 ULN011 Ulnar Hemimelia, Unilateral 5
1520 TBL018 Tibial Hemimelia, Unilateral 5
1521 FBL013 Fibular Hemimelia, Unilateral 5
1522 FBL012 Fibular Hemimelia, Bilateral 5
1523 CNG276 Congenital Absence of Upper Arm and Forearm with Hand Present, Unilateral 5
1524 CNG275 Congenital Absence of Upper Arm and Forearm with Hand Present, Bilateral 5
1525 CNG307 Congenital Absence of Thigh and Lower Leg with Foot Present, Unilateral 5
1526 CNG306 Congenital Absence of Thigh and Lower Leg with Foot Present, Bilateral 5
1527 BRC070 Brachydactyly of Fingers, Unilateral 5
1528 BRC071 Brachydactyly of Fingers, Bilateral 5
1529 BRC072 Brachydactyly of Toes, Unilateral 5
1530 BRC073 Brachydactyly of Toes, Bilateral 5
1531 CNG309 Congenital Absence of Both Forearm and Hand, Unilateral 5
1532 CNG308 Congenital Absence of Both Forearm and Hand, Bilateral 5
1533 CNG311 Congenital Absence of Both Lower Leg and Foot, Unilateral 5
1534 CNG310 Congenital Absence of Both Lower Leg and Foot, Bilateral 5
1535 APD005 Apodia, Unilateral 5
1536 APD004 Apodia, Bilateral 5
1537 ADC003 Adactyly of Foot, Unilateral 5
1538 ADC004 Adactyly of Foot, Bilateral 5
1539 HMR030 Humeral Agenesis/hypoplasia, Unilateral 5
1540 HMR029 Humeral Agenesis/hypoplasia, Bilateral 5
1541 PLY093 Polydactyly of an Index Finger, Unilateral 5
1542 PLY096 Polydactyly of an Index Finger, Bilateral 5
1543 PLY107 Polydactyly of a Biphalangeal Thumb, Unilateral 5
1544 PLY108 Polydactyly of a Biphalangeal Thumb, Bilateral 5
1545 P PST080 Postaxial Polydactyly Type a, Unilateral 5
1546 c PST082 Postaxial Polydactyly Type B, Unilateral 5
1547 c PST081 Postaxial Polydactyly Type B, Bilateral 5
1548 HMR032 Humero-Radial Synostosis, Unilateral 5
1549 HMR033 Humero-Radial Synostosis, Bilateral 5
1550 HMR034 Humero-Radio-Ulnar Synostosis, Unilateral 5
1551 HMR035 Humero-Radio-Ulnar Synostosis, Bilateral 5
1552 HMR036 Humero-Ulnar Synostosis, Unilateral 5
1553 HMR037 Humero-Ulnar Synostosis, Bilateral 5
1554 11P002 11p15.4 Microduplication Syndrome 5
1555 THR083 Third Branchial Cleft Anomaly 5
1556 FCL034 Facial Dermoid Cyst 5
1557 LWR011 Lower Lip Fistula 5
1558 EXT043 External Auditory Canal Aplasia/hypoplasia 5
1559 MSC088 Mosaic Trisomy 5 5
1560 DST088 Distal Trisomy 1p36 5
1561 2Q2002 2q23.1 Microduplication Syndrome 5
1562 DST079 Distal Trisomy 5q 5
1563 DST087 Distal Trisomy 7p 5
1564 DST084 Distal Trisomy 8q 5
1565 DST075 Distal Trisomy 16q 5
1566 DST074 Distal Trisomy 20q 5
1567 DST077 Distal Trisomy 22q 5
1568 DST070 Distal Monosomy 4q 5
1569 9P1001 9p13 Microdeletion Syndrome 5
1570 9Q3001 9q31.1q31.3 Microdeletion Syndrome 5
1571 16Q002 16q24.1 Microdeletion Syndrome 5
1572 14Q005 14q24.1q24.3 Microdeletion Syndrome 5
1573 12Q001 12q15q21.1 Microdeletion Syndrome 5
1574 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 5
1575 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 5
1576 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 5
1577 c FML148 Familial Schizencephaly, Emx2-Related 5
1578 c FML149 Familial Schizencephaly, Six3-Related 5
1579 c HYD017 Hydrocephalus Autosomal Recessive 5
1580 ISL079 Isolated Encephalocele 5
1581 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1582 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1583 ISL106 Isolated Congenital Microcephaly 5
1584 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1585 DPP001 Dappled Diaphyseal Dysplasia 5
1586 16P011 16p12.1p12.3 Triplication Syndrome 5
1587 LTH028 Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency 5
1588 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 5
1589 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 5
1590 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 5
1591 XLN217 X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome 5
1592 XYL001 Xylt1-Cdg 5
1593 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
1594 LRY034 Laryngotracheal Angioma 5
1595 MSC087 Mosaic Trisomy 4 5
1596 2Q3006 2q31.1 Microduplication Syndrome 5
1597 NND009 Non-Distal Trisomy 9q 5
1598 c MTR065 Maternal Uniparental Disomy of Chromosome 21 5
1599 c MTR079 Maternal Uniparental Disomy of Chromosome 13 5
1600 c PTR019 Paternal Uniparental Disomy of Chromosome 5 5
1601 c PTR022 Paternal Uniparental Disomy of Chromosome 7 5
1602 c PTR021 Paternal Uniparental Disomy of Chromosome 21 5
1603 c PTR023 Paternal Uniparental Disomy of Chromosome 13 5
1604 NND008 Non-Distal Monosomy 7p 5
1605 NND006 Non-Distal Monosomy 20q 5
1606 DST067 Distal Monosomy 14q 5
1607 NND007 Non-Distal Monosomy 12q 5
1608 ATY020 Atypical Norrie Disease Due to Monosomy Xp11.3 5
1609 c TBC003 Tbck-Related Intellectual Disability Syndrome 5
1610 KLL013 Kallmann Syndrome-Heart Disease Syndrome 5
1611 MCR188 Macrodactyly of Fingers, Unilateral 5
1612 MCR190 Macrodactyly of Toes, Unilateral 5
1613 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 5
1614 P CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 5
1615 c CRN093 Craniosynostosis Autosomal Dominant 5
1616 c ACQ050 Acquired Schizencephaly 5
1617 c ACR048 Acrorenal Syndrome Recessive 5
1618 c GLC035 Glaucoma, Primary Infantile Type 3a 4
1619 UNL009 Unilateral Congenital Megacalycosis 4
1620 CNG331 Congenital Bilateral Megacalycosis 4
1621 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 4
1622 CNG354 Congenital Complete Agenesis of Pericardium 4
1623 CNG353 Congenital Partial Agenesis of Pericardium 4
1624 MLP005 Malposition of the Coronary Ostium 4
1625 TRC084 Tricuspid Valve Agenesis 4
1626 CNG272 Congenital Achiasma 4
1627 ISL028 Isolated Cerebellar Vermis Hypoplasia 4
1628 c ISL052 Isolated Total Cerebellar Vermis Agenesis 4
1629 ISL051 Isolated Partial Cerebellar Vermis Agenesis 4
1630 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 4
1631 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 4
1632 SBC038 Sub-Cortical Nodular Heterotopia 4
1633 UNL012 Unilateral Hemispheric Polymicrogyria 4
1634 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 4
1635 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 4
1636 P LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 4
1637 ISL056 Isolated Lissencephaly Type 1 Without Known Genetic Defects 4
1638 MCR287 Microcephaly-Digital Anomalies-Intellectual Disability Syndrome 4
1639 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 4
1640 CMP057 Complete Cryptophthalmia 4
1641 PRT091 Partial Cryptophthalmia 4
1642 ERL027 Early-Onset Non-Syndromic Cataract 4
1643 ERL042 Early-Onset Partial Cataract 4
1644 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 4
1645 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 4
1646 DYS128 Dysplasia of Head of Femur, Meyer Type 4
1647 MDL018 Madelung Deformity, Unilateral 4
1648 MDL017 Madelung Deformity, Bilateral 4
1649 CHR512 Cheirospondyloenchondromatosis 4
1650 PTL007 Patella Aplasia/hypoplasia, Unilateral 4
1651 PTL008 Patella Aplasia/hypoplasia, Bilateral 4
1652 AML034 Amelia of Upper Limb, Unilateral 4
1653 AML033 Amelia of Lower Limb, Unilateral 4
1654 AML032 Amelia of Lower Limb, Bilateral 4
1655 SYM017 Symbrachydactyly of Hand and Foot, Unilateral 4
1656 SYM018 Symbrachydactyly of Hand and Foot, Bilateral 4
1657 PST084 Postaxial Polydactyly of Toes, Unilateral 4
1658 P PST085 Postaxial Polydactyly of Toes, Bilateral 4
1659 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 4
1660 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 4
1661 CMM016 Commissural Lip Fistula 4
1662 CHN052 Choanal Atresia, Bilateral 4
1663 CNG227 Congenital Nasal Pyriform Aperture Stenosis with Holoprosencephaly 4
1664 20Q002 20q11.2 Microduplication Syndrome 4
1665 CNG280 Congenital Shoulder Dislocation 4
1666 UTR055 Uterine Cervical Aplasia and Agenesis 4
1667 P HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 4
1668 HYP506 Hypoplasia of the Mitral Valve Annulus 4
1669 ISL102 Isolated Tracheo-Esophageal Fistula 4
1670 OPN003 Open Iniencephaly 4
1671 CLS021 Closed Iniencephaly 4
1672 ISL044 Isolated Arhinencephaly 4
1673 c PRM147 Primary Megaureter, Adult-Onset Form 4
1674 ENC035 Encircling Double Aortic Arch 4
1675 PRC041 Pericardial and Diaphragmatic Defect 4
1676 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1677 MDN006 Median Cleft of the Upper Lip and Maxilla 4
1678 P TSS001 Tessier Number 5 Facial Cleft 4
1679 ISL107 Isolated Congenital Syngnathia 4
1680 MSC079 Mosaic Trisomy 1 4
1681 MSC090 Mosaic Trisomy 3 4
1682 c MTR060 Maternal Uniparental Disomy of Chromosome 9 4
1683 2P1003 2p13.2 Microdeletion Syndrome 4
1684 CNG315 Congenital Vertical Talus, Unilateral 4
1685 CNG316 Congenital Vertical Talus, Bilateral 4
1686 MCR187 Macrodactyly of Fingers, Bilateral 4
1687 MCR189 Macrodactyly of Toes, Bilateral 4
1688 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1689 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1690 c DDX001 Ddx3x-Related Intellectual Disability 4
1691 NNT001 Neonatal Infective Mastitis 4
1692 CNG270 Congenital Primary Megaureter, Obstructed Form 4
1693 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1694 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
1695 ART114 Aortopulmonary Coronary Arterial Course 4
1696 STN010 Stenosis or Atrophy of the Coronary Ostium 4
1697 ABN010 Abnormal Number of Coronary Ostia 4
1698 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 4
1699 DSC011 Discrete Fibromuscular Subaortic Stenosis 4
1700 CNG361 Congenital Supravalvular Mitral Ring 4
1701 CNG360 Congenital Unguarded Mitral Orifice 4
1702 MTR068 Mitral Valve Agenesis 4
1703 ANM025 Anomaly of the Mitral Subvalvular Apparatus 4
1704 STR076 Straddling and/or Overriding Mitral Valve 4
1705 STR075 Straddling or Overriding Tricuspid Valve 4
1706 ANM024 Anomaly of the Tricuspid Valve Chordae 4
1707 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 4
1708 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
1709 XLN157 X-Linked Intellectual Disability, Porteous Type 4
1710 LPT012 Leptomyelolipoma 4
1711 ISL035 Isolated Amyelia 4
1712 XLN223 X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability 4
1713 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 4
1714 CRV059 Cervicofacial Fibrochondroma 4
1715 NSL016 Nasal Dorsum Fistula/cyst 4
1716 PNN004 Pinnae Fistula or Cyst 4
1717 CHN051 Choanal Atresia, Unilateral 4
1718 SPR109 Supratip Dysplasia 4
1719 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 4
1720 XLN147 X-Linked Intellectual Disability, Stoll Type 4
1721 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 4
1722 PRT109 Partially Involuting Congenital Hemangioma 4
1723 FRN038 Frontonasal Arteriovenous Malformation 4
1724 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 4
1725 c SPL020 Split Hand Split Foot Malformation Autosomal Recessive 3
1726 TBL020 Tubular Duplication of the Esophagus 3
1727 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3
1728 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 3
1729 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 3
1730 c TSS003 Tessier Number 6 Facial Cleft 3
1731 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 3
1732 CNG322 Congenital Elbow Dislocation, Unilateral 3
1733 CNG321 Congenital Elbow Dislocation, Bilateral 3
1734 CNG317 Congenital Genu Flexum 3
1735 CNG320 Congenital Patella Dislocation, Unilateral 3
1736 CNG319 Congenital Patella Dislocation, Bilateral 3
1737 c FML317 Familial Monosomy 7 Syndrome 3
1738 LTH040 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome 3
1739 GLP005 Glioependymal/ependymal Cyst 3
1740 PYC005 Pycr2-Related Microcephaly-Progressive Leukoencephalopathy 3
1741 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3
1742 PTS016 Ptosis-Syndactyly-Learning Difficulties Syndrome 3
1743 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 3
1744 XLN222 X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome 3
1745 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 2
1746 PRL032 Perlman Syndrome 50
1747 WRF003 Warfarin Syndrome 32
1748 EMB004 Embryonal Carcinoma 55
1749 FTL028 Fetal Retinoid Syndrome 10
1750 CNG133 Congenital Varicella Syndrome 28
1751 TWN001 Twin-to-Twin Transfusion Syndrome 46
1752 DTH005 Diethylstilbestrol Syndrome 25
1753 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 33
1754 P FTL009 Fetal Akinesia Deformation Sequence 53
1755 IMM039 Immune Hydrops Fetalis 33
1756 FTL011 Fetal Aminopterin Syndrome 7
1757 NCH001 Nuchal Bleb, Familial 20
1758 FTL018 Fetal Indomethacin Syndrome 19
1759 PHN003 Phenylketonuria 72
1760 P ICH004 Ichthyosis 53
1761 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 48
1762 c ATS013 Autosomal Recessive Congenital Ichthyosis 46
1763 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 42
1764 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 39
1765 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 33
1766 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 30
1767 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 28
1768 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
1769 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 28
1770 EMB015 Embryonal Tumor with Multilayered Rosettes 24
1771 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 24
1772 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 23
1773 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 22
1774 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 22
1775 c ICH023 Ichthyosis, Acquired 20
1776 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 15
1777 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 14
1778 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 13
1779 FTL010 Fetal Akinesia Syndrome X-Linked 11
1780 c ST1001 St14-Related Autosomal Recessive Congenital Ichthyosis 11
1781 c LPN003 Lipn-Related Autosomal Recessive Congenital Ichthyosis 9
1782 c ABC002 Abca12-Related Autosomal Recessive Congenital Ichthyosis 8
1783 c ALX004 Alox12b-Related Autosomal Recessive Congenital Ichthyosis 7
1784 c ALX005 Aloxe3-Related Autosomal Recessive Congenital Ichthyosis 7
1785 c CYP003 Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis 7
1786 c PNP002 Pnpla1-Related Autosomal Recessive Congenital Ichthyosis 7
1787 c TGM001 Tgm1-Related Autosomal Recessive Congenital Ichthyosis 7
1788 P END039 Endodermal Sinus Tumor 43
1789 TRT001 Teratocarcinoma 37
1790 c ADL047 Adult Endodermal Sinus Tumor 18
1791 MRS006 Morse-Rawnsley-Sargent Syndrome 4
1792 P DST002 Distal Arthrogryposis 57
1793 P BTR001 Botryoid Rhabdomyosarcoma 43
1794 c ART119 Arthrogryposis, Distal, Type 5 41
1795 GCH018 Gaucher Disease, Perinatal Lethal 31
1796 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 27
1797 c ART112 Arthrogryposis, Distal, Type 10 22
1798 c ART128 Arthrogryposis, Distal, Type 6 20
1799 FTL024 Fetal Minoxidil Syndrome 16
1800 c ADL031 Adult Botryoid Rhabdomyosarcoma 12
1801 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 11
1802 PHN013 Phenobarbital Antenatal Exposure 8
1803 NRR002 Norrie Disease 62
1804 P RBL001 Rubella 53
1805 EMB007 Embryonal Sarcoma 45
1806 P OTS002 Otospondylomegaepiphyseal Dysplasia 44
1807 c CNG124 Congenital Rubella 43
1808 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 42
1809 BWN001 Bowen-Conradi Syndrome 40
1810 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 34
1811 STR094 Stromme Syndrome 31
1812 TST033 Testicular Regression Syndrome 27
1813 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 22
1814 c LTH042 Lethal Congenital Contracture Syndrome 10 21
1815 MTR016 Maternal Hyperphenylalaninemia 17
1816 HRS002 Hersh Podruch Weisskopk Syndrome 17
1817 FTL064 Fetal Methylmercury Syndrome 16
1818 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 13
1819 CCN012 Cocaine Antenatal Exposure 11
1820 NNT022 Neonatal Ovarian Cyst 11
1821 P FTL014 Fetal Brain Disruption Sequence 10
1822 ANT075 Antihypertensive Drugs Antenatal Exposure 7
1823 FTL017 Fetal Enterovirus Syndrome 7
1824 SMM002 Semmekrot Haraldsson Weemaes Syndrome 3
1825 MRF001 Marfan Syndrome 74
1826 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1827 c FNC027 Fanconi Anemia, Complementation Group a 71
1828 FBR012 Fabry Disease 71
1829 CRZ001 Crouzon Syndrome 70
1830 P DMN001 Diamond-Blackfan Anemia 70
1831 TTR001 Tetralogy of Fallot 69
1832 WRN001 Werner Syndrome 68
1833 APR006 Apert Syndrome 68
1834 P PSD087 Pseudoxanthoma Elasticum 67
1835 P TBR001 Tuberous Sclerosis 67
1836 CST001 Costello Syndrome 67
1837 P CWD001 Cowden Disease 65
1838 P TRN020 Turner Syndrome 65
1839 P PRD006 Prader-Willi Syndrome 65
1840 c MCP037 Mucopolysaccharidosis is 65
1841 P HLP001 Holoprosencephaly 65
1842 P CRN015 Cornelia De Lange Syndrome 64
1843 P MCL013 Mucolipidosis Iv 64
1844 P BRD002 Bardet-Biedl Syndrome 64
1845 c MCP003 Mucopolysaccharidosis Vii 63
1846 P OST001 Osteopetrosis 63
1847 HTC002 Hutchinson-Gilford Progeria 63
1848 FBR011 Fibrodysplasia Ossificans Progressiva 63
1849 c MCP009 Mucopolysaccharidosis Ii 62
1850 P CLD001 Cleidocranial Dysplasia 62
1851 c NRF019 Neurofibromatosis, Type 2 62
1852 WLL001 Williams-Beuren Syndrome 62
1853 c MCP024 Mucopolysaccharidosis Type Vi 61
1854 P CNT061 Conotruncal Heart Malformations 61
1855 LDD001 Ladd Syndrome 60
1856 LPR018 Leprechaunism 60
1857 P HLT001 Holt-Oram Syndrome 60
1858 P CNG015 Congenital Diaphragmatic Hernia 60
1859 P INT068 Intestinal Disease 59
1860 MCR013 Microphthalmia 59
1861 P CMR001 Camurati-Engelmann Disease 59
1862 GLC037 Glucocorticoid Resistance 59
1863 ELL001 Ellis-Van Creveld Syndrome 59
1864 PLM070 Pulmonic Stenosis 59
1865 PTR032 Peters-Plus Syndrome 59
1866 c MCP001 Mucopolysaccharidosis Iii 58
1867 P BCK002 Beckwith-Wiedemann Syndrome 58
1868 HYP042 Hypochondroplasia 58
1869 CMP005 Campomelic Dysplasia 58
1870 CTS003 Coats Disease 58
1871 P HYP035 Hypophosphatasia 57
1872 P RTH001 Rothmund-Thomson Syndrome 57
1873 ARM001 Aromatase Deficiency 57
1874 c EHL033 Ehlers-Danlos Syndrome, Classic Type 57
1875 P RTN025 Retinoschisis 57
1876 BNN001 Bannayan-Riley-Ruvalcaba Syndrome 57
1877 P OCL013 Oculodentodigital Dysplasia 57
1878 P STC001 Stickler Syndrome 56
1879 P HYP055 Hypoplastic Left Heart Syndrome 56
1880 P SLV001 Silver-Russell Syndrome 56
1881 P WRD001 Waardenburg's Syndrome 56
1882 CCH002 Coach Syndrome 56
1883 P EPD009 Epidermolysis Bullosa Dystrophica 56
1884 SHP002 Shprintzen-Goldberg Syndrome 55
1885 c BRD010 Bardet-Biedl Syndrome 1 55
1886 PRT093 Proteus Syndrome, Somatic 55
1887 ALS001 Alstrom Syndrome 55
1888 SMT008 Smith-Magenis Syndrome 55
1889 P CRP007 Carpenter Syndrome 55
1890 P INT070 Intestinal Obstruction 55
1891 CFF003 Caffey Disease 55
1892 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 55
1893 c TBR024 Tuberous Sclerosis-1 55
1894 MCK005 Mckusick-Kaufman Syndrome 55
1895 P HLL001 Hallermann-Streiff Syndrome 55
1896 c ART101 Aortic Valve Disease 2 54
1897 MLT135 Multiple Sulfatase Deficiency 54
1898 SDC002 Sed Congenita 54
1899 P SCK004 Seckel Syndrome 54
1900 P KBK002 Kabuki Syndrome 1 54
1901 ARS001 Aarskog-Scott Syndrome 54
1902 PTN001 Patent Foramen Ovale 54
1903 P STS008 Sotos Syndrome 1 54
1904 P TRC072 Treacher Collins Syndrome 1 54
1905 CLB001 Coloboma 54
1906 HMF006 Hemifacial Microsomia 54
1907 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53
1908 PLC005 Placental Insufficiency 53
1909 c PRX045 Peroxisome Biogenesis Disorder 1b 53
1910 ASP005 Asphyxiating Thoracic Dystrophy 53
1911 P LRS001 Larsen Syndrome 53
1912 CSY001 C Syndrome 53
1913 P HYD011 Hydrolethalus Syndrome 53
1914 SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 52
1915 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1916 c WRD030 Waardenburg Syndrome, Type 1 52
1917 CHR619 Chromosome 2q35 Duplication Syndrome 52
1918 P VSC005 Vesicoureteral Reflux 52
1919 PSD012 Pseudoachondroplasia 52
1920 ART001 Arterial Tortuosity Syndrome 51
1921 ACR011 Acromesomelic Dysplasia, Maroteaux Type 51
1922 PHL006 Phelan-Mcdermid Syndrome 51
1923 MCN007 Meconium Aspiration Syndrome 51
1924 P FML012 Familial Partial Lipodystrophy 51
1925 P AXN002 Axenfeld-Rieger Syndrome 51
1926 GRG001 Greig Cephalopolysyndactyly Syndrome 51
1927 BLL001 Baller-Gerold Syndrome 51
1928 P GND004 Gonadal Dysgenesis 51
1929 CHR101 Char Syndrome 50
1930 P PRX021 Proximal Symphalangism 50
1931 VND002 Van Der Woude Syndrome 50
1932 c EHL032 Ehlers-Danlos Syndrome, Type Viib 50
1933 c DMN023 Diamond-Blackfan Anemia 1 50
1934 P CRN108 Cranioectodermal Dysplasia 1 50
1935 P ADM011 Adams-Oliver Syndrome 50
1936 c BRD014 Bardet-Biedl Syndrome 2 50
1937 URB001 Urbach-Wiethe Disease 50
1938 PRR016 Pierre Robin Syndrome 50
1939 MLL012 Miller Syndrome 50
1940 P PCH015 Pachyonychia Congenita 1 50
1941 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 50
1942 RNL078 Renal Dysplasia 50
1943 PYC001 Pycnodysostosis 50
1944 PTS001 Patau Syndrome 50
1945 MYL020 Myelomeningocele 50
1946 CRB045 Cerebellar Hypoplasia 50
1947 P FBR025 Fibrochondrogenesis 50
1948 ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 49
1949 ACR013 Acrodysostosis 49
1950 JCK001 Jackson-Weiss Syndrome 49
1951 ACR012 Aicardi Syndrome 49
1952 CRD002 Cri-Du-Chat Syndrome 49
1953 ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 49
1954 MCN017 Meconium Ileus 49
1955 FRS002 Frasier Syndrome 49
1956 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1957 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49
1958 P JNC001 Junctional Epidermolysis Bullosa 48
1959 c MCP041 Mucopolysaccharidosis Type Iiia 48
1960 c BRD011 Bardet-Biedl Syndrome 10 48
1961 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1962 P CNG411 Congenital Disorder of Glycosylation, Type in 48
1963 c ORF037 Orofaciodigital Syndrome I 48
1964 MLL018 Miller-Dieker Lissencephaly Syndrome 48
1965 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 48
1966 AGN012 Agnathia-Otocephaly Complex 48
1967 P WLL002 Weill-Marchesani Syndrome 48
1968 P OPN001 Open-Angle Glaucoma 48
1969 BRN056 Bronchopulmonary Dysplasia 48
1970 P PRN026 Porencephaly 48
1971 c BRD012 Bardet-Biedl Syndrome 11 48
1972 ULN003 Ulnar-Mammary Syndrome 47
1973 MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 47
1974 PPL046 Popliteal Pterygium Syndrome 1 47
1975 P KLF001 Kleefstra Syndrome 47
1976 c BRD013 Bardet-Biedl Syndrome 12 47
1977 OCC006 Occipital Horn Syndrome 47
1978 c BRC078 Brachydactyly, Type A1 47
1979 ECT078 Ectodermal Dysplasia 2, Clouston Type 47
1980 P SCL048 Sclerosteosis 46
1981 CHR222 Chromosome 1p36 Deletion Syndrome 46
1982 CRN248 Craniofrontonasal Dysplasia 46
1983 EBS001 Ebstein Anomaly 46
1984 LPD011 Lipoid Adrenal Hyperplasia 46
1985 c MCL046 Mucolipidosis Iii Alpha/beta 46
1986 SPR099 Supravalvar Aortic Stenosis 46
1987 MLT145 Multiple Enchondromatosis, Maffucci Type 46
1988 PLM041 Pulmonary Valve Stenosis 46
1989 c PST041 Posterior Urethral Valves 46
1990 P CRN012 Craniometaphyseal Dysplasia 46
1991 PYL017 Pyle Disease 46
1992 P PSD015 Pseudohypoparathyroidism 46
1993 c WLF009 Wolfram Syndrome 2 46
1994 JLL001 Jalili Syndrome 45
1995 YNS002 Yunis-Varon Syndrome 45
1996 c BRD044 Bardet-Biedl Syndrome 17 45
1997 P BRC015 Bruck Syndrome 45
1998 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 45
1999 HND003 Hand-Foot-Uterus Syndrome 45
2000 BRN003 Branchiooculofacial Syndrome 45
2001 SNG010 Single Median Maxillary Central Incisor 45
2002 P ORF001 Orofaciodigital Syndrome 45
2003 P SPN250 Spondyloepimetaphyseal Dysplasia 45
2004 MCR037 Macroglossia 45
2005 EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 45
2006 FHR001 Fuhrmann Syndrome 45
2007 c HLP024 Holoprosencephaly 2 45
2008 HMM003 Hemimegalencephaly 44
2009 c BRC079 Brachydactyly, Type A2 44
2010 TTR011 Tetraploidy 44
2011 MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 44
2012 P MLG086 Malignant Hyperthermia Susceptibility 44
2013 BLP032 Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 44
2014 P SLD010 Sialidosis, Type I 44
2015 HYP691 Hypomelanosis of Ito 44
2016 c ACH033 Achondrogenesis, Type Ia 44
2017 c USH033 Usher Syndrome, Type 3a 44
2018 P AML002 Amelogenesis Imperfecta 44
2019 c BRD016 Bardet-Biedl Syndrome 4 44
2020 P MSC022 Mosaic Variegated Aneuploidy Syndrome 44
2021 FCL072 Focal Cortical Dysplasia, Type Ii, Somatic 44
2022 TRP009 Triple X Syndrome 44
2023 c BRD015 Bardet-Biedl Syndrome 3 44
2024 CTY001 Cat Eye Syndrome 43
2025 c WRD020 Waardenburg Syndrome, Type 4a 43
2026 c ACH035 Achondrogenesis Ib 43
2027 P DNR001 Duane Retraction Syndrome 43
2028 P FRN012 Frontometaphyseal Dysplasia 43
2029 c SPL024 Split-Hand/foot Malformation 3 43
2030 DXT001 Dextrocardia 43
2031 P MRD002 Marden-Walker Syndrome 43
2032 P MLT134 Multiple Pterygium Syndrome, Lethal Type 43
2033 P PNC045 Pancreatic Agenesis 43
2034 P ART121 Arthrogryposis Multiplex Congenita, Distal, Type 1 43
2035 DPN005 Du Pan Syndrome 43
2036 c ORF034 Orofaciodigital Syndrome Vi 42
2037 c CCK005 Cockayne Syndrome, Type a 42
2038 c CRN139 Cornelia De Lange Syndrome 1 42
2039 TRC062 Tricuspid Atresia 42
2040 P CRN013 Craniodiaphyseal Dysplasia 42
2041 c