Fetal Diseases Category (4415 diseases)


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

# Family MCID Name MIFTS
1 HYD038 Hydrops Fetalis, Nonimmune 50
2 HYD012 Hydrops Fetalis 52
3 P EMB005 Embryonal Rhabdomyosarcoma 53
4 MCR078 Microphthalmia Microtia Fetal Akinesia 19
5 FTL028 Fetal Retinoid Syndrome 15
6 VLP002 Valproate Embryopathy 49
7 MTH070 Methimazole Antenatal Exposure 20
8 ACT091 Acitretin Embryopathy 6
9 c FTL006 Fetal Alcohol Spectrum Disorder 49
10 P PRG092 Pregnancy Loss, Recurrent 1 34
11 FTL007 Fetal Hydantoin Syndrome 31
12 IST007 Isotretinoin Embryopathy-Like Syndrome 25
13 IST006 Isotretinoin Syndrome 23
14 HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 42
15 NCH001 Nuchal Bleb, Familial 33
16 P PRM252 Preimplantation Embryonic Lethality 1 16
17 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 52
18 P OTS002 Otospondylomegaepiphyseal Dysplasia 46
19 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 45
20 EMB006 Embryonal Testis Carcinoma 36
21 c RHB023 Rhabdomyosarcoma, Embryonal, 1 36
22 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 17
23 CHL043 Childhood Embryonal Testis Carcinoma 9
24 P FTL001 Fetal Alcohol Syndrome 63
25 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 23
26 P CNT003 Central Nervous System Embryonal Carcinoma 10
27 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 8
28 PRP094 Propylthiouracil Embryofetopathy 5
29 PRS030 Persistent Fetal Circulation Syndrome 45
30 OVR050 Ovarian Embryonal Carcinoma 42
31 FTL004 Fetal Erythroblastosis 38
32 CHL026 Childhood Ovarian Embryonal Carcinoma 9
33 c ADL007 Adult Central Nervous System Embryonal Carcinoma 9
34 AMN013 Aminopterin/methotrexate Embryofetopathy 18
35 ACT206 Acitretin/etretinate Embryopathy 17
36 FTL066 Fetal Akinesia Syndrome, X-Linked 15
37 P TXP001 Toxoplasmosis 65
38 c CNG021 Congenital Toxoplasmosis 58
39 CCN007 Cocoon Syndrome 44
40 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
41 GRM001 Germ Cell and Embryonal Cancer 35
42 INT041 Intratubular Embryonal Carcinoma 28
43 FTL029 Fetal Thalidomide Syndrome 27
44 c RHB021 Rhabdomyosarcoma, Embryonal, 2 16
45 c PRM251 Preimplantation Embryonic Lethality 2 13
46 PDT006 Pediatric Cns Embryonal Cell Carcinoma 8
47 FTL016 Fetal Edema 25
48 FTL062 Fetal Iodine Deficiency Disorder 25
49 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 20
50 ORB002 Orbit Embryonal Rhabdomyosarcoma 18
51 MYC060 Mycophenolate Mofetil Embryopathy 17
52 PRS010 Prostate Embryonal Rhabdomyosarcoma 17
53 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
54 CCN010 Cocaine Embryofetopathy 12
55 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 8
56 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 6
57 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 6
58 HYD027 Hydrops Fetalis Anemia Immune Disorder Absent Thumb 3
59 HRP013 Herpetic Embryopathy 2
60 VTM006 Vitamin a Embryopathy 2
61 ALC001 Alcohol-Related Birth Defect 45
62 P PRS062 Persistent Hyperplastic Primary Vitreous 40
63 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 10
64 EMB002 Embryoma 46
65 PRT001 Partial Fetal Alcohol Syndrome 22
66 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 20
67 FTL058 Fetal Trimethadione Syndrome 17
68 FTL026 Fetal Parvovirus Syndrome 16
69 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 13
70 P NML001 Nemaline Myopathy 48
71 FTL021 Fetal Macrosomia 46
72 c NML003 Nemaline Myopathy 2 45
73 c NML002 Nemaline Myopathy 1 44
74 c MCK032 Meckel Syndrome, Type 3 43
75 c LTH008 Lethal Congenital Contracture Syndrome 2 43
76 c NML005 Nemaline Myopathy 4 42
77 c NML004 Nemaline Myopathy 3 42
78 c MCK030 Meckel Syndrome, Type 7 37
79 c SVR040 Severe Congenital Nemaline Myopathy 36
80 c MCK033 Meckel Syndrome, Type 4 35
81 c NML006 Nemaline Myopathy 5 34
82 c INT274 Intermediate Congenital Nemaline Myopathy 32
83 FTL005 Fetal Adenoma 31
84 PRX085 Preaxial Hallucal Polydactyly 25
85 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
86 c NML025 Nemaline Myopathy 8 23
87 c NML007 Nemaline Myopathy 6 23
88 c ADL068 Adult-Onset Nemaline Myopathy 23
89 c NML010 Nemaline Myopathy 7 22
90 c NML021 Nemaline Myopathy 9 21
91 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 18
92 PRV001 Parovarian Cyst 17
93 FTL044 Fetal Cytomegalovirus Syndrome 15
94 c SPR105 Sporadic Fetal Brain Disruption Sequence 14
95 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 13
96 FTL048 Fetal Lung Interstitial Tumor 12
97 EMB014 Embryonary Disorganization Syndrome 12
98 CHL030 Childhood Botryoid Rhabdomyosarcoma 10
99 THY113 Thymic Aplasia with Fetal Death 9
100 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 9
101 FTL020 Fetal Left Ventricular Aneurysm 7
102 MXD015 Mixed Type Rhabdomyosarcoma 5
103 FTL049 Fetal Carbamazepine Syndrome 5
104 LSS032 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome 5
105 FTL063 Fetal Nicotine Spectrum Disorder 3
106 SMT021 Somatomedin, Embryonic 3
107 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 2
108 FTL027 Fetal Phenothiazine Syndrome 2
109 P ATX030 Ataxia-Telangiectasia 84
110 P FNC027 Fanconi Anemia, Complementation Group a 82
111 P NNN008 Noonan Syndrome 1 79
112 PFF001 Pfeiffer Syndrome 78
113 KPS004 Kaposi Sarcoma 76
114 P NRF023 Neurofibromatosis, Type Ii 75
115 MRF001 Marfan Syndrome 75
116 PHN003 Phenylketonuria 73
117 VNH007 Von Hippel-Lindau Syndrome 72
118 P ALG028 Alagille Syndrome 1 72
119 FBR012 Fabry Disease 72
120 P DMN001 Diamond-Blackfan Anemia 71
121 P FRG001 Fragile X Syndrome 70
122 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 70
123 P TRN020 Turner Syndrome 69
124 SMT004 Smith-Lemli-Opitz Syndrome 69
125 P PSD087 Pseudoxanthoma Elasticum 68
126 P DYS007 Dyskeratosis Congenita 68
127 c TBR026 Tuberous Sclerosis 2 67
128 INC021 Incontinentia Pigmenti 67
129 P MCP040 Mucopolysaccharidosis-Plus Syndrome 67
130 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 66
131 CST001 Costello Syndrome 66
132 P HYD006 Hydrocephalus 66
133 P CRD224 Cardiofaciocutaneous Syndrome 1 66
134 P KBK002 Kabuki Syndrome 1 66
135 P CCK001 Cockayne Syndrome 65
136 c MCP050 Mucopolysaccharidosis, Type Ii 64
137 c FML346 Familial Adenomatous Polyposis 1 64
138 P RBL001 Rubella 64
139 WLL001 Williams-Beuren Syndrome 63
140 P MCK013 Meckel Syndrome, Type 1 62
141 P SHW006 Shwachman-Diamond Syndrome 1 62
142 NRR002 Norrie Disease 62
143 c MCP049 Mucopolysaccharidosis, Type Vii 62
144 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
145 P WLF004 Wolfram Syndrome 61
146 CFF002 Coffin-Lowry Syndrome 61
147 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60
148 P OCL013 Oculodentodigital Dysplasia 60
149 c NNN010 Noonan Syndrome 3 59
150 NTH001 Netherton Syndrome 59
151 ABL002 Ablepharon-Macrostomia Syndrome 59
152 STR039 Sturge-Weber Syndrome 59
153 c PRX045 Peroxisome Biogenesis Disorder 1b 59
154 LCR014 Lacrimoauriculodentodigital Syndrome 59
155 P CRN108 Cranioectodermal Dysplasia 1 59
156 ANG020 Angiosarcoma 58
157 P HLL001 Hallermann-Streiff Syndrome 58
158 ANN002 Anencephaly 57
159 KLP010 Klippel-Trenaunay-Weber Syndrome 57
160 P INF016 Infantile Epileptic Encephalopathy 57
161 c WLF013 Wolfram Syndrome 1 56
162 P ICH004 Ichthyosis 56
163 P PRM011 Primary Ciliary Dyskinesia 56
164 P VNB005 Van Buchem Disease 56
165 NWB001 Newborn Respiratory Distress Syndrome 55
166 HRL003 Hurler Syndrome 55
167 CLF004 Cleft Lip/palate 55
168 OST024 Osteoporosis-Pseudoglioma Syndrome 55
169 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 55
170 c OST163 Osteopetrosis, Autosomal Recessive 3 55
171 c CRN139 Cornelia De Lange Syndrome 1 55
172 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
173 MLT135 Multiple Sulfatase Deficiency 54
174 c WRD033 Waardenburg Syndrome, Type 2e 54
175 ART002 Arts Syndrome 54
176 c ACH041 Achondrogenesis, Type Ii 54
177 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 54
178 RGH009 Right Atrial Isomerism 54
179 CHR005 Chorioamnionitis 54
180 OLG003 Oligohydramnios 53
181 HMF009 Hemifacial Hyperplasia 53
182 P TRT010 Teratoma 53
183 NNT012 Neonatal Jaundice 52
184 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 52
185 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
186 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 51
187 CTY001 Cat Eye Syndrome 51
188 P OMP004 Omphalocele 51
189 c ATS393 Autosomal Recessive Cutis Laxa Type I 51
190 PLC007 Placental Abruption 51
191 CCH002 Coach Syndrome 51
192 HNN001 Hennekam Syndrome 51
193 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
194 c CCK007 Cockayne Syndrome B 51
195 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 51
196 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
197 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
198 MLB001 Mulibrey Nanism 50
199 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 50
200 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
201 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 50
202 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 49
203 c PRX059 Peroxisome Biogenesis Disorder 1a 49
204 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
205 JHN001 Johanson-Blizzard Syndrome 49
206 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
207 P DNR001 Duane Retraction Syndrome 49
208 P RDL002 Radioulnar Synostosis 49
209 NVS001 Neovascular Glaucoma 49
210 c NNN012 Noonan Syndrome 5 48
211 RNP003 Renpenning Syndrome 1 48
212 c BRD044 Bardet-Biedl Syndrome 17 48
213 P ART084 Arteriovenous Fistula 48
214 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
215 VTR016 Vater/vacterl Association 48
216 ACR058 Acrofacial Dysostosis 1, Nager Type 48
217 P EPT020 Epithelioid Hemangioendothelioma 48
218 c WRD020 Waardenburg Syndrome, Type 4a 48
219 P FNG006 Feingold Syndrome 1 48
220 c CRP023 Carpenter Syndrome 1 48
221 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 48
222 MCR165 Microphthalmia with Limb Anomalies 48
223 P ART018 Aortic Valve Insufficiency 47
224 c OPT051 Opitz Gbbb Syndrome, Type I 47
225 P NNT009 Neonatal Diabetes Mellitus 47
226 HYP347 Hypotonia-Cystinuria Syndrome 47
227 c MLG081 Malignant Teratoma 47
228 c USH021 Usher Syndrome, Type Iid 47
229 RST011 Restrictive Dermopathy, Lethal 47
230 CHN065 Choanal Atresia, Posterior 47
231 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
232 MCR173 Microform Holoprosencephaly 47
233 PLC001 Placenta Accreta 47
234 c SCK009 Seckel Syndrome 1 47
235 P VSC013 Visceral Heterotaxy 47
236 P MWT001 Mowat-Wilson Syndrome 46
237 c WRD019 Waardenburg Syndrome, Type 4b 46
238 P NLX004 Neu-Laxova Syndrome 1 46
239 c WRD031 Waardenburg Syndrome, Type 3 46
240 c HYD064 Hydrocephalus, Congenital, 1 46
241 c USH035 Usher Syndrome Type 2 46
242 PLY012 Polyhydramnios 46
243 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 46
244 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
245 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
246 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 46
247 SHR098 Short-Rib Thoracic Dysplasia 12 46
248 PLL008 Pallister-Killian Syndrome 46
249 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 46
250 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 45
251 c ACH042 Achondrogenesis, Type Ib 45
252 c OPT050 Opitz Gbbb Syndrome, Type Ii 45
253 DBT090 Diabetes and Deafness, Maternally Inherited 45
254 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
255 c DYS119 Dystonia 9 45
256 c OTP007 Otopalatodigital Syndrome, Type Ii 45
257 P ACH011 Achondrogenesis 45
258 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
259 c BRC060 Brachydactyly, Type E2 45
260 c FNC047 Fanconi Anemia, Complementation Group Q 44
261 c ACH033 Achondrogenesis, Type Ia 44
262 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
263 c BRD033 Bardet-Biedl Syndrome 13 44
264 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 44
265 c MCK012 Meckel Syndrome, Type 6 44
266 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
267 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 44
268 c NNN009 Noonan Syndrome 2 44
269 c FNC058 Fanconi Anemia, Complementation Group R 44
270 c HYP543 Hypoplastic Left Heart Syndrome 1 44
271 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
272 NNC002 Nance-Horan Syndrome 43
273 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
274 c DYS146 Dystonia 24 43
275 c SHR030 Short Qt Syndrome 43
276 c BRD048 Bardet-Biedl Syndrome 18 43
277 c BRC062 Brachydactyly, Type D 43
278 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 43
279 ANM001 Anemia of Prematurity 43
280 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 43
281 c BRT050 Bartter Syndrome, Type 2, Antenatal 43
282 c MYS078 Myasthenic Syndrome, Congenital, 14 43
283 MRG013 Mirage Syndrome 42
284 c FNC056 Fanconi Anemia, Complementation Group V 42
285 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
286 c FNC052 Fanconi Anemia, Complementation Group T 42
287 HYL004 Hyaline Fibromatosis Syndrome 42
288 CHR382 Chromosome 18q Deletion Syndrome 42
289 SPN331 Spondyloocular Syndrome 42
290 c BRD035 Bardet-Biedl Syndrome 15 42
291 c MCR263 Microphthalmia, Syndromic 1 42
292 c FNC025 Fanconi Anemia, Complementation Group J 41
293 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
294 KBG001 Kbg Syndrome 41
295 MYH012 Myhre Syndrome 41
296 c FNC029 Fanconi Anemia, Complementation Group I 41
297 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
298 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
299 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 41
300 c CTR130 Cataract 9, Multiple Types 41
301 c PRM212 Primary Microcephaly 41
302 GNT031 Genitopatellar Syndrome 41
303 c FNC057 Fanconi Anemia, Complementation Group U 41
304 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 41
305 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
306 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 41
307 ISL121 Isolated Split Hand-Split Foot Malformation 41
308 c PNT049 Pontocerebellar Hypoplasia, Type 2d 41
309 c HLP029 Holoprosencephaly 4 40
310 c GLL038 Galloway-Mowat Syndrome 1 40
311 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
312 c SCK015 Seckel Syndrome 2 40
313 c SCP001 Sc Phocomelia Syndrome 40
314 c SPL034 Split-Hand/foot Malformation 4 40
315 P OCY003 Oocyte Maturation Defect 1 40
316 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
317 c USH041 Usher Syndrome, Type if 40
318 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 40
319 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
320 c HLP024 Holoprosencephaly 2 40
321 c CNG033 Congenital Syphilis 40
322 EPS026 Epispadias 40
323 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 40
324 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
325 c HLP026 Holoprosencephaly 3 40
326 c VNM003 Van Maldergem Syndrome 1 40
327 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 40
328 c NNN011 Noonan Syndrome 4 40
329 MCR103 Microtia 39
330 P LSS024 Lissencephaly with Cerebellar Hypoplasia 39
331 c RTS003 Ritscher-Schinzel Syndrome 1 39
332 c JBR015 Joubert Syndrome 6 39
333 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
334 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
335 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
336 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 39
337 SML028 Semilobar Holoprosencephaly 39
338 P CRC039 Coarctation of Aorta 39
339 c NNN013 Noonan Syndrome 6 39
340 CHR667 Chromosome 3pter-P25 Deletion Syndrome 39
341 c LKD008 Leukodystrophy, Hypomyelinating, 4 39
342 c JBR024 Joubert Syndrome 14 39
343 P JVN008 Juvenile Glaucoma 39
344 P ORF002 Orofacial Cleft 39
345 c BRD032 Bardet-Biedl Syndrome 14 39
346 P PRT042 Parietal Foramina 39
347 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 39
348 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
349 c CTR118 Cataract 14, Multiple Types 39
350 PLC009 Placenta Praevia 39
351 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
352 DPH019 Diaphanospondylodysostosis 38
353 c MNS014 Monosomy 22 38
354 HRL004 Hurler-Scheie Syndrome 38
355 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 38
356 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
357 c FNC023 Fanconi Anemia, Complementation Group N 38
358 c MCR124 Microphthalmia, Isolated 1 38
359 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
360 c CTR115 Cataract 16, Multiple Types 38
361 c MCL016 Mucolipidosis Iii Gamma 38
362 P MCR364 Macrodactyly 38
363 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
364 c ZMM002 Zimmermann-Laband Syndrome 1 38
365 c OST126 Osteopetrosis, Autosomal Recessive 1 38
366 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 38
367 ALB014 Alobar Holoprosencephaly 38
368 TTR016 Tetra-Amelia Syndrome 38
369 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38
370 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
371 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
372 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 38
373 c MCP051 Mucopolysaccharidosis, Type Ix 38
374 P CMM008 Communicating Hydrocephalus 38
375 c SPL070 Split-Hand/foot Malformation 2 38
376 c FNC028 Fanconi Anemia, Complementation Group L 37
377 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 37
378 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
379 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
380 LBR025 Lobar Holoprosencephaly 37
381 c USH042 Usher Syndrome, Type Ig 37
382 MND025 Mandibulofacial Dysostosis with Alopecia 37
383 CHR010 Chorioangioma 37
384 c CTR170 Cataract 30, Multiple Types 37
385 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 37
386 WRS002 Warsaw Breakage Syndrome 37
387 P ANT061 Antenatal Bartter Syndrome 37
388 c WRD024 Waardenburg Syndrome, Type 4c 37
389 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
390 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
391 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 37
392 c MCK014 Meckel Syndrome, Type 5 37
393 OGD001 Ogden Syndrome 37
394 c CTR098 Cataract 1, Multiple Types 37
395 CHR387 Chromosome Xp21 Deletion Syndrome 37
396 GLS018 Glass Syndrome 36
397 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
398 c CNG188 Congenital Disorder of Glycosylation, Type if 36
399 c NNN021 Noonan Syndrome 8 36
400 c CNG513 Congenital Ptosis 36
401 c ATS076 Autosomal Recessive Stickler Syndrome 36
402 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 36
403 OHD005 Ohdo Syndrome, Sbbys Variant 36
404 SPN012 Spindle Cell Hemangioma 36
405 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 36
406 GPS001 Gapo Syndrome 36
407 ALG027 Al-Gazali-Bakalinova Syndrome 36
408 PST063 Postsynaptic Congenital Myasthenic Syndromes 36
409 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
410 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 36
411 P GLP001 Geleophysic Dysplasia 36
412 c BRD045 Bardet-Biedl Syndrome 19 36
413 SCR035 Sacral Agenesis with Vertebral Anomalies 36
414 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36
415 c NNN024 Noonan Syndrome 9 36
416 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
417 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 36
418 STL007 Steel Syndrome 35
419 c CTR122 Cataract 5, Multiple Types 35
420 c CNG379 Congenital Disorder of Glycosylation, Type It 35
421 c AML020 Amelogenesis Imperfecta, Type Iv 35
422 BRB006 Barber-Say Syndrome 35
423 c SPL033 Split-Hand/foot Malformation 6 35
424 c PRM032 Primary Congenital Glaucoma 35
425 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 35
426 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 35
427 TRM011 Terminal Osseous Dysplasia 35
428 c FNC048 Fanconi Anemia, Complementation Group O 35
429 c MLG145 Malignant Epithelioid Hemangioendothelioma 35
430 PRK003 Parkes Weber Syndrome 35
431 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 35
432 CHR501 Chromosome 17q12 Deletion Syndrome 35
433 c BRD047 Bardet-Biedl Syndrome 16 35
434 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 34
435 ISL062 Isolated Plagiocephaly 34
436 c CTR174 Cataract 40 34
437 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 34
438 THR017 Thoracoabdominal Syndrome 34
439 HYP679 Hypoglossia-Hypodactylia 34
440 c KLF004 Kleefstra Syndrome 1 34
441 c CTR103 Cataract 4, Multiple Types 34
442 c OVR075 Ovarian Dysgenesis 1 34
443 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
444 CNS013 Constricting Bands, Congenital 34
445 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 34
446 c CTR141 Cataract 21, Multiple Types 34
447 c HTR021 Heterotaxy, Visceral, 5, Autosomal 34
448 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 34
449 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
450 c SPL025 Split-Hand/foot Malformation 5 33
451 c GLP003 Geleophysic Dysplasia 1 33
452 c WLL036 Weill-Marchesani Syndrome 1 33
453 c MCK034 Meckel Syndrome, Type 8 33
454 c BRT052 Bartter Syndrome, Type 1, Antenatal 33
455 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
456 INT276 Interatrial Communication 33
457 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 33
458 OLV004 Oliver-Mcfarlane Syndrome 33
459 CHR377 Chromosome 10q26 Deletion Syndrome 33
460 NNT004 Neonatal Respiratory Failure 33
461 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 33
462 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
463 SPT016 Septopreoptic Holoprosencephaly 33
464 P ATL001 Atelosteogenesis 33
465 c PRX055 Peroxisome Biogenesis Disorder 11a 33
466 c MTR051 Maternal Uniparental Disomy of Chromosome 1 33
467 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 33
468 c AML057 Amelogenesis Imperfecta, Type Iiia 33
469 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
470 c CTR125 Cataract 7 33
471 c JBR041 Joubert Syndrome 3 33
472 MCR096 Macrocephaly/autism Syndrome 33
473 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
474 c JBR025 Joubert Syndrome 17 33
475 c AML017 Amelogenesis Imperfecta, Type Ib 33
476 P OMD003 Omodysplasia 33
477 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
478 c HLP028 Holoprosencephaly 5 32
479 BRC004 Brachydactyly-Syndactyly Syndrome 32
480 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 32
481 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
482 NNT005 Neonatal Candidiasis 32
483 c CTR145 Cataract 44 32
484 c DMN021 Diamond-Blackfan Anemia 6 32
485 OSC001 Oeis Complex 32
486 DGT009 Digitotalar Dysmorphism 32
487 c GLP004 Geleophysic Dysplasia 2 32
488 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
489 WRF003 Warfarin Syndrome 32
490 c PRM022 Primary Syphilis 31
491 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 31
492 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
493 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
494 P HYP700 Hypomyelinating Leukodystrophy 31
495 c WLL037 Weill-Marchesani Syndrome 2 31
496 c NNN025 Noonan Syndrome 10 31
497 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 31
498 c CTS031 Cutis Laxa, Autosomal Dominant 2 31
499 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
500 PLM013 Pulmonary Immaturity 31
501 TKN001 Takenouchi-Kosaki Syndrome 31
502 c ACQ027 Acquired Cutis Laxa 31
503 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 31
504 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 31
505 c CTR158 Cataract 37 31
506 MCR099 Microlissencephaly 31
507 CLF028 Cleft Soft Palate 31
508 c CRN109 Cranioectodermal Dysplasia 2 31
509 c SCK011 Seckel Syndrome 5 31
510 PLM151 Pulmonary Arteriovenous Fistulas 31
511 NRN022 Neurenteric Cyst 31
512 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 30
513 ALZ030 Alazami Syndrome 30
514 c HLP027 Holoprosencephaly 7 30
515 c USH031 Usher Syndrome, Type Ij 30
516 c SCK010 Seckel Syndrome 4 30
517 P TRS029 Trisomy 1q 30
518 OCC011 Occipital Encephalocele 30
519 CRN264 Craniosynostosis with Fibular Aplasia 30
520 TRC007 Tricuspid Valve Prolapse 30
521 PRT131 Partial Trisomy Distal 4q 30
522 c STS007 Sotos Syndrome 2 30
523 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 30
524 MCR183 Microcephaly-Capillary Malformation Syndrome 30
525 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
526 WTT002 Witteveen-Kolk Syndrome 29
527 c PRX056 Peroxisome Biogenesis Disorder 11b 29
528 PLY110 Polymicrogyria, Bilateral Temporooccipital 29
529 c ART104 Arthrogryposis, Distal, Type 5d 29
530 VND005 Van Den Ende-Gupta Syndrome 29
531 c PRX063 Peroxisome Biogenesis Disorder 2a 29
532 MLR023 Melorheostosis, Isolated 29
533 DST008 Diastematomyelia 29
534 c ERL012 Early-Onset Glaucoma 29
535 c USH030 Usher Syndrome, Type Ik 29
536 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
537 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
538 P RTS001 Ritscher-Schinzel Syndrome 29
539 P CRN249 Cornea Plana 29
540 PRP093 Pierpont Syndrome 29
541 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
542 c RBN008 Rubinstein-Taybi Syndrome 2 29
543 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 29
544 ISL096 Isolated Klippel-Feil Syndrome 29
545 P DXT004 Dextro-Looped Transposition of the Great Arteries 29
546 CBB002 Cobb Syndrome 29
547 c CTR175 Cataract 24 29
548 c JBR014 Joubert Syndrome 9 29
549 c PRX060 Peroxisome Biogenesis Disorder 5a 29
550 c NNN020 Noonan Syndrome 7 29
551 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 28
552 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
553 P SCL047 Sclerocornea 28
554 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
555 P TRC031 Trichorhinophalangeal Syndrome 28
556 CRB147 Cerebellofaciodental Syndrome 28
557 c PRX053 Peroxisome Biogenesis Disorder 14b 28
558 c CTR121 Cataract 25 28
559 c RBN020 Robinow Syndrome, Autosomal Dominant 3 28
560 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
561 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
562 LRY022 Laryngoonychocutaneous Syndrome 28
563 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
564 c SYN084 Synpolydactyly 1 28
565 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 28
566 BRN133 Bronchomalacia 28
567 c SYM022 Symphalangism, Proximal, 1a 28
568 P DSB002 Desbuquois Dysplasia 28
569 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
570 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
571 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 28
572 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
573 CHR399 Chromosome 4q21 Deletion Syndrome 28
574 c JBR012 Joubert Syndrome 5 28
575 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 28
576 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 28
577 RHM015 Rhombencephalosynapsis 28
578 c FNC062 Fanconi Anemia, Complementation Group S 28
579 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 28
580 SLF015 Self-Improving Collodion Baby 28
581 TTT001 Tatton-Brown-Rahman Syndrome 27
582 c PRX054 Peroxisome Biogenesis Disorder 12a 27
583 WLL012 Williams-Beuren Region Duplication Syndrome 27
584 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 27
585 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
586 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 27
587 c MYS067 Myasthenic Syndrome, Congenital, 22 27
588 ANG062 Angioosteohypertrophic Syndrome 27
589 c JBR016 Joubert Syndrome 10 27
590 c PNT039 Pontocerebellar Hypoplasia, Type 7 27
591 c ART122 Arthrogryposis, Distal, Type 8 27
592 P KNN002 Kenny-Caffey Syndrome 27
593 TTR023 Tetraamelia-Multiple Malformations Syndrome 27
594 c CTR124 Cataract 10, Multiple Types 27
595 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
596 INF021 Infant Gynecomastia 27
597 c PRX050 Peroxisome Biogenesis Disorder 9b 27
598 c CRP022 Carpenter Syndrome 2 27
599 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 27
600 ASS004 Aase-Smith Syndrome I 27
601 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
602 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 27
603 ISL011 Isolated Aniridia 27
604 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 27
605 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 27
606 CYN002 Cyanosis, Transient Neonatal 27
607 TTR014 Tetrasomy 18p 27
608 c PRT060 Parietal Foramina 2 27
609 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
610 UNV002 Univentricular Heart 26
611 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
612 c PRR026 Perrault Syndrome 5 26
613 c OST120 Osteopetrosis, Autosomal Recessive 5 26
614 GBR007 Gabriele-De Vries Syndrome 26
615 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
616 c BRD050 Bardet-Biedl Syndrome 21 26
617 RGH006 Right Aortic Arch 26
618 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
619 ATY022 Atypical Coarctation of Aorta 26
620 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 26
621 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 26
622 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 26
623 c FRN033 Frontonasal Dysplasia 2 26
624 c HTR009 Heterotaxy, Visceral, 2, Autosomal 26
625 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
626 PNL023 Penile Agenesis 26
627 ISL061 Isolated Brachycephaly 26
628 UVL009 Uvula, Bifid 26
629 c BSL030 Basal Encephalocele 26
630 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
631 c CTR166 Cataract 33, Multiple Types 26
632 c JBR031 Joubert Syndrome 21 26
633 CRL006 Caroli Disease, Isolated 26
634 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
635 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
636 P NNT006 Neonatal Myasthenia Gravis 26
637 P RCR026 Recurrent Hydatidiform Mole 26
638 c MRG015 Meier-Gorlin Syndrome 7 26
639 c MCK028 Meckel Syndrome 13 26
640 TTR019 Tetrasomy 5p 26
641 ISL118 Isolated Tracheoesophageal Fistula 26
642 ISL089 Isolated Scaphocephaly 26
643 c ANT085 Anterior Segment Dysgenesis 5 25
644 c MYS076 Myasthenic Syndrome, Congenital, 8 25
645 c NML022 Nemaline Myopathy 10 25
646 LMB069 Lamb-Shaffer Syndrome 25
647 c DMN017 Diamond-Blackfan Anemia 10 25
648 c SPN418 Spinocerebellar Ataxia 44 25
649 c ACR103 Acrofrontofacionasal Dysostosis 1 25
650 c JBR013 Joubert Syndrome 8 25
651 c PRX043 Peroxisome Biogenesis Disorder 6b 25
652 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 25
653 c HLP025 Holoprosencephaly 9 25
654 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
655 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
656 c DSB005 Desbuquois Dysplasia 2 25
657 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
658 ATR055 Atrial Septal Aneurysm 25
659 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25
660 XQ1001 Xq12-Q13.3 Duplication Syndrome 25
661 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
662 c MRG010 Meier-Gorlin Syndrome 3 25
663 c WLL040 Weill-Marchesani Syndrome 4 25
664 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 25
665 MCR302 Macrostomia, Isolated 25
666 c DMN022 Diamond-Blackfan Anemia 9 25
667 TTR027 Tetrasomy 15q26 25
668 CLF049 Cleft Lip and Alveolus 25
669 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 25
670 c KBK003 Kabuki Syndrome 2 25
671 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 25
672 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 25
673 c CWD008 Cowden Syndrome 6 25
674 c CRN215 Cornelia De Lange Syndrome 4 25
675 c FRN037 Frontal Encephalocele 25
676 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
677 c PRX048 Peroxisome Biogenesis Disorder 10a 25
678 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
679 c ANT083 Anterior Segment Dysgenesis 7 25
680 c PRX046 Peroxisome Biogenesis Disorder 7a 25
681 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 25
682 c JBR030 Joubert Syndrome 22 25
683 c PRX091 Peroxisome Biogenesis Disorder 8a 25
684 c SPN259 Spinocerebellar Ataxia 32 25
685 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 25
686 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 25
687 CHR366 Chromosome 5p13 Duplication Syndrome 25
688 c PRX057 Peroxisome Biogenesis Disorder 4a 25
689 c SPN421 Spinocerebellar Ataxia 47 25
690 EPP011 Epiphyseal Chondrodysplasia, Miura Type 25
691 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 25
692 P ACR020 Acropectorovertebral Dysplasia 25
693 c FRN032 Frontonasal Dysplasia 3 25
694 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 25
695 c MCK035 Meckel Syndrome, Type 10 25
696 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
697 c PRX065 Peroxisome Biogenesis Disorder 3a 24
698 ISL087 Isolated Oxycephaly 24
699 CHR379 Chromosome 15q26-Qter Deletion Syndrome 24
700 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
701 c MCR137 Microphthalmia, Isolated 2 24
702 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
703 DPR014 Diprosopus 24
704 c CWD004 Cowden Syndrome 5 24
705 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 24
706 PHK008 Phakomatosis Cesioflammea 24
707 c PRX051 Peroxisome Biogenesis Disorder 6a 24
708 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
709 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 24
710 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 24
711 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 24
712 CRS011 Criss-Cross Heart 24
713 c VNM002 Van Maldergem Syndrome 2 24
714 c GLL040 Galloway-Mowat Syndrome 3 24
715 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 24
716 c SPN323 Spinocerebellar Ataxia 41 24
717 c OTF003 Otofaciocervical Syndrome 2 24
718 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
719 c DYS145 Dystonia 23 24
720 CRN266 Craniofacial Dyssynostosis with Short Stature 24
721 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
722 P SYN064 Syndromic X-Linked Intellectual Disability 24
723 UTR054 Uterine Hypoplasia 24
724 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 24
725 c CRN209 Cornelia De Lange Syndrome 5 24
726 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 24
727 c JBR037 Joubert Syndrome 26 24
728 c JBR018 Joubert Syndrome 4 24
729 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 24
730 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 24
731 c BRD051 Bardet-Biedl Syndrome 20 24
732 c SCK029 Seckel Syndrome 7 24
733 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 24
734 FNT003 Fountain Syndrome 24
735 c HLP016 Holoprosencephaly 11 24
736 c FNG009 Feingold Syndrome 2 24
737 c MCR228 Microphthalmia, Syndromic 13 24
738 c PRX052 Peroxisome Biogenesis Disorder 13a 24
739 c PRX058 Peroxisome Biogenesis Disorder 4b 24
740 c LTH047 Lethal Congenital Contracture Syndrome 3 24
741 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
742 c DMN019 Diamond-Blackfan Anemia 4 24
743 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 24
744 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 24
745 SKR001 Skraban-Deardorff Syndrome 24
746 c MYS056 Myasthenic Syndrome, Congenital, 17 24
747 c ART131 Arthrogryposis, Distal, Type 4 24
748 c PRX062 Peroxisome Biogenesis Disorder 8b 24
749 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 23
750 c BRC080 Brachydactyly, Type A1, B 23
751 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 23
752 c MYS064 Myasthenic Syndrome, Congenital, 16 23
753 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 23
754 c SHR031 Short Qt Syndrome 1 23
755 PRT101 Poretti-Boltshauser Syndrome 23
756 c DMN024 Diamond-Blackfan Anemia 7 23
757 c SHR032 Short Qt Syndrome 2 23
758 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 23
759 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
760 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 23
761 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 23
762 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 23
763 c WLL038 Weill-Marchesani Syndrome 3 23
764 P PTR018 Paternal Uniparental Disomy of Chromosome 6 23
765 c DMN018 Diamond-Blackfan Anemia 5 23
766 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 23
767 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 23
768 c LSS009 Lissencephaly 3 23
769 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23
770 FCL047 Facial Clefting, Oblique, 1 23
771 BRN129 Branchial Cleft Anomalies 23
772 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 23
773 c CTR180 Cataract 22, Multiple Types 23
774 ACR101 Acrocraniofacial Dysostosis 23
775 c CRN135 Cornelia De Lange Syndrome 3 23
776 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 23
777 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
778 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 23
779 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 23
780 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
781 c MCR109 Microphthalmia, Isolated 4 23
782 c SCK037 Seckel Syndrome 9 23
783 c WRD022 Waardenburg Syndrome, Type 2d 23
784 c CFF011 Coffin-Siris Syndrome 6 23
785 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 23
786 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 23
787 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
788 c CTR131 Cataract 17, Multiple Types 23
789 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
790 c DYS138 Dystonia 21 23
791 c MCR114 Microphthalmia, Isolated 3 23
792 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 23
793 c SCK038 Seckel Syndrome 10 23
794 P ACR072 Acrorenal Syndrome 23
795 c LKD028 Leukodystrophy, Hypomyelinating, 15 23
796 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
797 c 46X030 46,xy Sex Reversal 9 23
798 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 23
799 c PRX047 Peroxisome Biogenesis Disorder 5b 23
800 P OVR076 Ovarian Dysgenesis 2 23
801 MCR310 Microgastria-Limb Reduction Defects Association 23
802 c JBR021 Joubert Syndrome 18 23
803 c HTR010 Heterotaxy, Visceral, 4, Autosomal 23
804 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 23
805 DSN002 Desanto-Shinawi Syndrome 23
806 c DYS151 Dystonia 25 23
807 PTL010 Patella Aplasia-Hypoplasia 23
808 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
809 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 23
810 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 23
811 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 23
812 c LTH029 Lethal Congenital Contracture Syndrome 9 23
813 CNG489 Congenital Herpes Simplex Virus Infection 23
814 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
815 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
816 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 23
817 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 23
818 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 23
819 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
820 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 22
821 ULN023 Ulnar Hypoplasia 22
822 c DYS172 Dystonia 27 22
823 c TRC073 Treacher Collins Syndrome 2 22
824 c SPN419 Spinocerebellar Ataxia 45 22
825 c CFF006 Coffin-Siris Syndrome 5 22
826 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 22
827 ERY043 Euryblepharon 22
828 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 22
829 P ERL043 Early-Onset Nuclear Cataract 22
830 P MNS011 Monosomy 9q22.3 22
831 c PNT042 Pontocerebellar Hypoplasia, Type 2f 22
832 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
833 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 22
834 c 46X058 46,xy Sex Reversal 10 22
835 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
836 c NLX003 Neu-Laxova Syndrome 2 22
837 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 22
838 ADD006 Adducted Thumbs Syndrome 22
839 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
840 c CLR068 Ciliary Dyskinesia, Primary, 5 22
841 c VNT028 Ventricular Septal Defect 1 22
842 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 22
843 c MNS008 Monosomy 21 22
844 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 22
845 c DMN029 Diamond-Blackfan Anemia 11 22
846 RFM002 Roifman-Chitayat Syndrome 22
847 c JBR040 Joubert Syndrome 30 22
848 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 22
849 c EHL065 Ehlers-Danlos Syndrome, Type V 22
850 c GLL041 Galloway-Mowat Syndrome 4 22
851 c HRN024 Horner Syndrome, Congenital 22
852 c MCR217 Microphthalmia, Syndromic 11 22
853 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 22
854 c CTR165 Cataract 19, Multiple Types 22
855 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 22
856 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 22
857 c APR009 Aprosencephaly Syndrome 22
858 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
859 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 22
860 c CTR184 Cataract 39, Multiple Types 22
861 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
862 c 46X017 46,xy Sex Reversal 6 22
863 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
864 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 22
865 c JVN034 Juvenile Polyposis of Infancy 22
866 c HTR018 Heterotaxy, Visceral, 7, Autosomal 22
867 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 22
868 c JBR022 Joubert Syndrome 20 22
869 c PRX066 Peroxisome Biogenesis Disorder 3b 22
870 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
871 TRG019 Trigonocephaly with Short Stature and Developmental Delay 22
872 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 22
873 c ERL002 Early Congenital Syphilis 22
874 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 22
875 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
876 c LTH030 Lethal Congenital Contracture Syndrome 8 22
877 c LKD027 Leukodystrophy, Hypomyelinating, 14 22
878 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22
879 c HLP022 Holoprosencephaly 8 22
880 c GLL042 Galloway-Mowat Syndrome 5 22
881 CHR502 Chromosome 17q12 Duplication Syndrome 22
882 c BRC075 Brachydactyly, Type A1, C 22
883 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 22
884 c LTH032 Lethal Congenital Contracture Syndrome 7 22
885 c JBR043 Joubert Syndrome 32 22
886 RDL022 Radial Hemimelia 22
887 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 22
888 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 22
889 c MCK036 Meckel Syndrome, Type 9 22
890 c FNC061 Fanconi Anemia, Complementation Group W 22
891 c CTR116 Cataract 15, Multiple Types 22
892 c SCK033 Seckel Syndrome 8 22
893 c SCN048 Secondary Syringomyelia 22
894 c MCR219 Microphthalmia, Isolated 8 22
895 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 22
896 c CLC055 Cole-Carpenter Syndrome 2 22
897 TRC110 Tracheobronchial Stenosis, Congenital 22
898 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
899 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 21
900 MSL005 Mseleni Joint Disease 21
901 CRT069 Cortical Malformations, Occipital 21
902 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 21
903 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
904 CNG009 Congenital Aortic Valve Stenosis 21
905 c CTR182 Cataract 23, Multiple Types 21
906 c AML047 Amelogenesis Imperfecta, Type Ia 21
907 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
908 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
909 MSC089 Mosaic Monosomy X 21
910 c MRG009 Meier-Gorlin Syndrome 2 21
911 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 21
912 DGT002 Digital Clubbing, Isolated Congenital 21
913 c DMN020 Diamond-Blackfan Anemia 8 21
914 LTH011 Lethal Arthrogryposis with Anterior Horn Cell Disease 21
915 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
916 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 21
917 c PRR021 Perrault Syndrome 4 21
918 c ADL057 Adult Teratoma 21
919 c PRX089 Peroxisome Biogenesis Disorder 10b 21
920 c LTH031 Lethal Congenital Contracture Syndrome 6 21
921 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
922 c RTS002 Ritscher-Schinzel Syndrome 2 21
923 c 46X056 46,xy Sex Reversal 5 21
924 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 21
925 c BRC105 Brachydactyly, Type A1, D 21
926 c CTR105 Cataract 12, Multiple Types 21
927 c MRG011 Meier-Gorlin Syndrome 4 21
928 HRR005 Harrod Syndrome 21
929 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
930 CHR369 Chromosome Xq28 Duplication Syndrome 21
931 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 21
932 c SHR033 Short Qt Syndrome 3 21
933 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 21
934 CHR483 Chromosome 3q13.31 Deletion Syndrome 21
935 PLV015 Pelvis-Shoulder Dysplasia 21
936 c STC012 Stickler Syndrome, Type Iv 21
937 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 21
938 c MRG014 Meier-Gorlin Syndrome 6 21
939 c 46X047 46,xy Sex Reversal 7 21
940 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
941 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 21
942 c SYN088 Synpolydactyly 2 21
943 c MYS077 Myasthenic Syndrome, Congenital, 15 21
944 CRN200 Craniosynostosis and Dental Anomalies 21
945 c VNT024 Ventricular Septal Defect 3 21
946 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 21
947 c JBR039 Joubert Syndrome 28 21
948 6QT002 6q Terminal Deletion Syndrome 21
949 c CTR163 Cataract 46, Juvenile-Onset 21
950 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 21
951 c PRV016 Periventricular Nodular Heterotopia 6 21
952 c JBR045 Joubert Syndrome 33 21
953 c JBR028 Joubert Syndrome 13 21
954 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 21
955 c CTR159 Cataract 35 21
956 c CWD009 Cowden Syndrome 7 21
957 c JBR044 Joubert Syndrome 31 21
958 c HYD040 Hydrolethalus Syndrome 2 21
959 CRV063 Cervical Spina Bifida Aperta 21
960 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 21
961 GRM003 German Syndrome 21
962 ISL084 Isolated Trigonocephaly 21
963 P PRX064 Peroxisome Biogenesis Disorder 2b 21
964 c BRC053 Brachyolmia Type 2 21
965 c CRD163 Cardiofaciocutaneous Syndrome 2 21
966 c MCK020 Meckel Syndrome, Type 11 21
967 c BLP049 Blepharocheilodontic Syndrome 2 20
968 MYP038 Myopathy, Congenital, Compton-North 20
969 c ORF027 Orofacial Cleft 11 20
970 ISL109 Isolated Cleft Lip 20
971 c STC011 Stickler Syndrome, Type V 20
972 c MRG012 Meier-Gorlin Syndrome 5 20
973 MCR353 Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome 20
974 RPD005 Rapidly Involuting Congenital Hemangioma 20
975 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 20
976 DYS134 Dysspondyloenchondromatosis 20
977 MNS012 Monostotic Fibrous Dysplasia 20
978 c JBR038 Joubert Syndrome 27 20
979 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 20
980 c AML048 Amelogenesis Imperfecta, Type Ih 20
981 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 20
982 2Q3005 2q31.1 Microdeletion Syndrome 20
983 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 20
984 c DMN028 Diamond-Blackfan Anemia 12 20
985 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 20
986 NTH002 Nathalie Syndrome 20
987 c CTR183 Cataract 38 20
988 P SPN237 Spina Bifida Aperta 20
989 c ART060 Arthrogryposis, Distal, Type 1b 20
990 LVC002 Levocardia 20
991 c CTR097 Cataract 34, Multiple Types 20
992 PRP101 Peripheral Pulmonary Stenosis 20
993 CNG284 Congenital Pseudoarthrosis of the Tibia 20
994 VCT008 Vacterl with Hydrocephalus 20
995 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
996 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 20
997 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
998 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 20
999 c DMN039 Diamond-Blackfan Anemia 17 20
1000 CHR393 Chromosome 19p13.13 Deletion Syndrome 20
1001 c PRX068 Peroxisome Biogenesis Disorder 7b 20
1002 c TWN010 Townes-Brocks Syndrome 2 20
1003 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 20
1004 c GLC054 Glaucoma 3, Primary Congenital, D 20
1005 c CTR111 Cataract 36 20
1006 OCL057 Oculotrichodysplasia 20
1007 c CTR136 Cataract 41 20
1008 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 20
1009 ORB019 Orbital Margin, Hypoplasia of 20
1010 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 20
1011 VGN031 Vaginal Atresia 20
1012 c CTR178 Cataract 27 20
1013 LMB056 Lumbosacral Spina Bifida Cystica 20
1014 CRV062 Cervical Spina Bifida Cystica 20
1015 TTR018 Tetragametic Chimerism 20
1016 DST059 Distal Trisomy 17q 20
1017 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 20
1018 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 20
1019 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
1020 c MTR077 Mitral Valve Prolapse 2 20
1021 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 20
1022 c USH043 Usher Syndrome, Type Ih 20
1023 c HYD042 Hydrocephalus, Autosomal Dominant 20
1024 c OVR107 Ovarian Dysgenesis 4 20
1025 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 20
1026 c AML050 Amelogenesis Imperfecta, Type if 20
1027 c ANX008 Anauxetic Dysplasia 2 20
1028 c CWD005 Cowden Syndrome 4 20
1029 c HTR023 Heterotaxy, Visceral, 6, Autosomal 20
1030 c ZMM003 Zimmermann-Laband Syndrome 2 20
1031 EHL064 Ehlers-Danlos Syndrome, Arthrochalasis Type 19
1032 c XLN227 X-Linked Chondrodysplasia Punctata 1 19
1033 c BRN128 Branchiootic Syndrome 3 19
1034 c SCK032 Seckel Syndrome 6 19
1035 THY105 Thyrocerebroretinal Syndrome 19
1036 c STS009 Sotos Syndrome 3 19
1037 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
1038 NSL017 Nasolacrimal Duct Cyst 19
1039 CHR612 Chromosome 15q14 Deletion Syndrome 19
1040 c DMN030 Diamond-Blackfan Anemia 13 19
1041 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
1042 c OVR115 Ovarian Dysgenesis 5 19
1043 ECT085 Ectopia Cordis 19
1044 OCL070 Oculopalatocerebral Syndrome 19
1045 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 19
1046 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 19
1047 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 19
1048 EPB002 Epiblepharon 19
1049 c ORF048 Orofacial Cleft 1 19
1050 c AML018 Amelogenesis Imperfecta, Type Ic 19
1051 c 46X059 46,xx Sex Reversal 4 19
1052 c DMN040 Diamond-Blackfan Anemia 16 19
1053 MSM018 Mesomelic Limb Shortening and Bowing 19
1054 CLF033 Cleft Mitral Valve 19
1055 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
1056 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
1057 c EPP026 Epiphyseal Dysplasia, Multiple, 7 19
1058 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19
1059 LMB057 Lumbosacral Spina Bifida Aperta 19
1060 c TTL009 Total Spina Bifida Aperta 19
1061 CHR362 Chromosome 17q21.31 Duplication Syndrome 19
1062 UPP008 Upper Thoracic Spina Bifida Aperta 19
1063 CRV064 Cervicothoracic Spina Bifida Aperta 19
1064 UPP007 Upper Thoracic Spina Bifida Cystica 19
1065 CRV061 Cervicothoracic Spina Bifida Cystica 19
1066 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
1067 TTL008 Total Spina Bifida Cystica 19
1068 THR085 Thoracolumbosacral Spina Bifida Aperta 19
1069 THR084 Thoracolumbosacral Spina Bifida Cystica 19
1070 c CTR176 Cataract, Age-Related Nuclear 19
1071 c CTR139 Cataract 42 19
1072 c OMP009 Omphalocele, Autosomal 19
1073 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 19
1074 MCR307 Microspherophakia-Metaphyseal Dysplasia 19
1075 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 19
1076 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
1077 c FCL056 Facial Paresis, Hereditary Congenital, 3 19
1078 c HTR020 Heterotaxy, Visceral, 8, Autosomal 19
1079 SPR065 Supernumerary Nostril 19
1080 FCL064 Facial Dysmorphism with Multiple Malformations 19
1081 DST036 Distal Trisomy 15q 19
1082 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 19
1083 c SPN121 Spondylocostal Dysostosis 1 19
1084 c ACQ050 Acquired Schizencephaly 19
1085 CRN224 Craniofaciofrontodigital Syndrome 19
1086 c MLT078 Multiple Synostoses Syndrome 3 19
1087 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 19
1088 8PN001 8p Inverted Duplication/deletion Syndrome 19
1089 DST044 Distal Trisomy 14q 19
1090 CLF047 Cleft-Limb-Heart Malformation Syndrome 19
1091 c CTR110 Cataract 26, Multiple Types 19
1092 PLY088 Polyvalvular Heart Disease Syndrome 19
1093 c CFF012 Coffin-Siris Syndrome 7 19
1094 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 19
1095 c KLF005 Kleefstra Syndrome 2 18
1096 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 18
1097 c ANT087 Anterior Segment Dysgenesis 6 18
1098 c ANT067 Anterior Segment Dysgenesis 8 18
1099 c CRN280 Cornea Plana 2, Autosomal Recessive 18
1100 c PRR022 Perrault Syndrome 2 18
1101 3P2001 3p25.3 Microdeletion Syndrome 18
1102 TRC114 Trichodental Dysplasia 18
1103 DST037 Distal Monosomy 9p 18
1104 c MTR063 Maternal Uniparental Disomy of Chromosome 2 18
1105 CMP039 Camptodactyly 1 18
1106 11Q001 11q22.2q22.3 Microdeletion Syndrome 18
1107 c WRD026 Waardenburg Syndrome, Type 2c 18
1108 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
1109 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 18
1110 P MTR062 Maternal Uniparental Disomy of Chromosome 4 18
1111 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
1112 c PLY103 Polydactyly, Postaxial, Type A5 18
1113 c VNT026 Ventricular Septal Defect 2 18
1114 MSC081 Mosaic Trisomy 15 18
1115 c CTR106 Cataract 20, Multiple Types 18
1116 c SX2003 Six2-Related Frontonasal Dysplasia 18
1117 P RNG031 Ring Chromosome Y Syndrome 18
1118 c HYP517 Hypoplastic Left Heart Syndrome 2 18
1119 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 18
1120 c HYD041 Hydatidiform Mole, Recurrent, 2 18
1121 c ORF047 Orofacial Cleft 15 18
1122 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 18
1123 c CTR144 Cataract 43 18
1124 c MTR061 Maternal Uniparental Disomy of Chromosome 6 18
1125 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 18
1126 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
1127 ILL003 Illum Syndrome 18
1128 c SYN082 Syndromic X-Linked Intellectual Disability 14 18
1129 6Q1001 6q16 Deletion Syndrome 18
1130 c CTR157 Cataract 28 18
1131 c GLP007 Geleophysic Dysplasia 3 18
1132 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 18
1133 c TRN062 Transient Neonatal Myasthenia Gravis 18
1134 c 46X002 46 Xx Gonadal Dysgenesis 18
1135 c FCL050 Facial Paresis, Hereditary Congenital, 2 18
1136 c CTR185 Cataract 30 18
1137 CHR614 Chromosome 16p13.2 Deletion Syndrome 18
1138 c CTR160 Cataract 45 18
1139 c PLY163 Polydactyly, Postaxial, Type A2 18
1140 c PRR033 Perrault Syndrome 6 18
1141 7P2001 7p22.1 Microduplication Syndrome 18
1142 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 18
1143 c MTR083 Mitral Valve Prolapse 3 18
1144 CNG347 Congenital Tricuspid Stenosis 18
1145 c 46X050 46,xx Sex Reversal 3 18
1146 8P1001 8p11.2 Deletion Syndrome 18
1147 FRY007 Fryns Macrocephaly 17
1148 NSL020 Nasal Glial Heterotopia 17
1149 DST045 Distal Trisomy 6p 17
1150 c 46X046 46,xy Sex Reversal 4 17
1151 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 17
1152 c EHL090 Ehlers-Danlos Syndrome Type 7b 17
1153 CHR567 Chromosome 5q12 Deletion Syndrome 17
1154 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
1155 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 17
1156 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 17
1157 c INT005 Intermediate Malignant Teratoma 17
1158 c MCR108 Microphthalmia, Isolated 7 17
1159 MYL044 Myelocystocele 17
1160 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 17
1161 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 17
1162 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 17
1163 c PTS010 Ptosis, Hereditary Congenital 2 17
1164 DYS135 Dysphagia Lusoria 17
1165 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
1166 c XLN229 X-Linked Chondrodysplasia Punctata 2 17
1167 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
1168 c MRG016 Meier-Gorlin Syndrome 8 17
1169 XLN198 X-Linked Diffuse Leiomyomatosis-Alport Syndrome 17
1170 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 17
1171 14Q001 14q12 Microdeletion Syndrome 17
1172 c OVR102 Ovarian Dysgenesis 3 17
1173 c PTS018 Ptosis, Hereditary Congenital 1 17
1174 SBR012 Subaortic Stenosis, Membranous 17
1175 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 17
1176 CRV066 Cervical Aortic Arch 17
1177 MNS013 Monosomy 13q34 17
1178 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 17
1179 c GLC089 Glaucoma 3, Primary Congenital, E 17
1180 16P003 16p13.11 Microdeletion Syndrome 17
1181 c CRN298 Carney Complex, Type 2 17
1182 MMM002 Mammary-Digital-Nail Syndrome 17
1183 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
1184 c MLT166 Multiple Synostoses Syndrome 4 17
1185 c CTR128 Cataract 33 17
1186 DST055 Distal 22q11.2 Microduplication Syndrome 17
1187 BLT023 Bilateral Acute Depigmentation of the Iris 17
1188 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 17
1189 KMM002 Kommerell Diverticulum 17
1190 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 17
1191 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 17
1192 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 17
1193 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 17
1194 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
1195 TYS007 Tyshchenko Syndrome 17
1196 c SYM019 Symphalangism, Proximal, 1b 17
1197 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
1198 c CRN279 Cornea Plana 1, Autosomal Dominant 17
1199 c DPH016 Diaphragmatic Hernia 3 17
1200 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 17
1201 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 17
1202 DBL010 Double-Orifice Mitral Valve 17
1203 ESS005 Essential Iris Atrophy 17
1204 CRN197 Coronary Arterial Fistulas 16
1205 c RBN010 Robinow-Like Syndrome 16
1206 c MTR067 Maternal Uniparental Disomy of Chromosome 16 16
1207 CNG491 Congenital Portosystemic Shunt 16
1208 ATR053 Atresia of Urethra 16
1209 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 16
1210 THM021 Thumb Deformity and Alopecia 16
1211 c PRT113 Parietal Foramina 3 16
1212 c PLY101 Polydactyly, Postaxial, Type A6 16
1213 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 16
1214 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 16
1215 CLF034 Cleft Hard Palate 16
1216 XP2002 Xp22.13p22.2 Duplication Syndrome 16
1217 c EFM001 Efemp2-Related Cutis Laxa 16
1218 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 16
1219 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
1220 CNG506 Congenital Amyoplasia 16
1221 CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 16
1222 6P2001 6p22 Microdeletion Syndrome 16
1223 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
1224 c BRN073 Branchiootic Syndrome 2 16
1225 c MSC139 Mosaic Variegated Aneuploidy Syndrome 3 16
1226 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
1227 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 16
1228 20Q001 20q13.33 Microdeletion Syndrome 16
1229 CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 16
1230 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
1231 DRM038 Dermotrichic Syndrome 16
1232 CNG330 Congenital Megacalycosis 16
1233 c PTR011 Paternal Uniparental Disomy of Chromosome 1 16
1234 DST035 Distal Trisomy 18q 16
1235 ISL120 Isolated Cerebellar Agenesis 16
1236 RDL031 Radial Aplasia, X-Linked 16
1237 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 16
1238 CLR127 Ciliary Dyskinesia, Primary, 36, X-Linked 16
1239 1P2001 1p21.3 Microdeletion Syndrome 16
1240 PHK006 Phakomatosis Pigmentokeratotica 16
1241 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 16
1242 c AML056 Amelogenesis Imperfecta, Type Iiib 16
1243 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
1244 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 16
1245 PLM116 Pulmonary Artery Hypoplasia 16
1246 AML053 Amelia, Autosomal Recessive 16
1247 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 16
1248 c DMN045 Diamond-Blackfan Anemia-Like 16
1249 c ORF014 Orofacial Cleft 5 16
1250 RTF001 Retiform Hemangioendothelioma 16
1251 NND003 Non-Distal Trisomy 10q 16
1252 c CNT108 Central Polydactyly 16
1253 c ORF025 Orofacial Cleft 6 16
1254 P ZYG003 Zygodactyly 1 16
1255 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 16
1256 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 16
1257 ESP040 Esophageal Duplication Cyst 16
1258 FMR013 Femoral Agenesis/hypoplasia 16
1259 c PLY144 Polydactyly, Postaxial, Type A7 15
1260 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 15
1261 DLT013 Deletion 5q35 15
1262 CNG243 Congenital Subglottic Stenosis 15
1263 DDL001 Didelphys Uterus 15
1264 HYP727 Hypoglossia with Situs Inversus 15
1265 RGH010 Right Ventricular Hypoplasia, Isolated 15
1266 c ORF028 Orofacial Cleft 10 15
1267 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 15
1268 P LRY049 Laryngotracheoesophageal Cleft Type 4 15
1269 VCL007 Vocal Cord Paralysis and Ptosis 15
1270 CNS012 Cono-Spondylar Dysplasia 15
1271 10Q002 10q22.3q23.3 Microduplication Syndrome 15
1272 c OCY002 Oocyte Maturation Defect 2 15
1273 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 15
1274 c MTP014 Metaphyseal Anadysplasia 2 15
1275 WHB001 Wahab Syndrome 15
1276 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 15
1277 c MTR057 Maternal Uniparental Disomy of Chromosome X 15
1278 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
1279 DST079 Distal Trisomy 5q 15
1280 DST082 Distal Trisomy 10q 15
1281 c ORF049 Orofacial Cleft 3 15
1282 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
1283 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 15
1284 PRS111 Persistent Fifth Aortic Arch 15
1285 MLC004 Mulchandani-Bhoj-Conlin Syndrome 15
1286 DST038 Distal Monosomy 7q36 15
1287 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 15
1288 49X004 49,xyyyy Syndrome 15
1289 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 15
1290 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
1291 UNL005 Unilateral Polymicrogyria 15
1292 XSM001 X Small Rings 15
1293 P OTP002 Otopalatodigital Spectrum Disorders 15
1294 RNN006 Reunion Island Larsen Syndrome 15
1295 CYS047 Cystic Fibrosis, Modifier of, 1 15
1296 c NNS019 Nonsyndromic Holoprosencephaly 15
1297 HYP497 Hyperphalangy 15
1298 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 15
1299 HLL014 Hallux Varus and Preaxial Polysyndactyly 15
1300 UNL006 Unilateral Focal Polymicrogyria 15
1301 20Q003 20q11.2 Microdeletion Syndrome 15
1302 MSC078 Mosaic Trisomy 17 15
1303 PTN009 Patent Urachus 15
1304 KLL013 Kallmann Syndrome-Heart Disease Syndrome 15
1305 c DPH025 Diaphragmatic Hernia 2 15
1306 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 15
1307 c ACQ026 Acquired Pseudoxanthoma Elasticum 15
1308 NND005 Non-Distal Trisomy 13q 15
1309 ANR045 Aneurysm of Interventricular Septum 15
1310 LRS009 Larsen-Like Syndrome, Lethal Type 14
1311 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 14
1312 TRN046 Transverse Vaginal Septum 14
1313 CMP077 Composite Hemangioendothelioma 14
1314 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 14
1315 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
1316 TRN017 Transient Neonatal Neutropenia 14
1317 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 14
1318 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 14
1319 CRN192 Craniorhiny 14
1320 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 14
1321 c KLF002 Kleefstra Syndrome Due to a Point Mutation 14
1322 MCR186 Microtriplication 11q24.1 14
1323 MSC080 Mosaic Trisomy 12 14
1324 ACC011 Accessory Mitral Valve Tissue 14
1325 c OCY005 Oocyte Maturation Defect 4 14
1326 ACR078 Acral Self-Healing Collodion Baby 14
1327 ART091 Aorto-Ventricular Tunnel 14
1328 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
1329 TRP023 Triphalangeal Thumbs and Dislocation of Patella 14
1330 DST071 Distal Monosomy 19p13.3 14
1331 P CNG326 Congenital Primary Megaureter 14
1332 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
1333 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1334 NND004 Non-Distal Monosomy 10q 14
1335 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
1336 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 14
1337 XLN133 X-Linked Intellectual Disability, Shashi Type 14
1338 VRR008 Verrucous Hemangioma 14
1339 c INF166 Infantile Epileptic Encephalopathy 55 14
1340 c ORF050 Orofacial Cleft 2 14
1341 CMP084 Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome 14
1342 CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 14
1343 c SYN040 Synpolydactyly 3 14
1344 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 14
1345 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1346 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 14
1347 APR008 Aprosencephaly and Cerebellar Dysgenesis 14
1348 c GLC052 Glaucoma 3, Primary Congenital, C 14
1349 MSC086 Mesocardia 14
1350 c TRS033 Trisomy 18-Like Syndrome 14
1351 CMP079 Complete Septate Uterus 14
1352 c ORF029 Orofacial Cleft 13 14
1353 RCT033 Rectal Duplication 13
1354 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 13
1355 DRL001 Dural Sinus Malformation 13
1356 EXT062 Extracranial Carotid Artery Aneurysm 13
1357 ANN015 Anonychia with Flexural Pigmentation 13
1358 ANR041 Aniridia-Intellectual Disability Syndrome 13
1359 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 13
1360 CLF040 Cleft Lip-Retinopathy Syndrome 13
1361 c HLP021 Holoprosencephaly 6 13
1362 P BLT016 Bilateral Polymicrogyria 13
1363 DST052 Distal 7q11.23 Microduplication Syndrome 13
1364 TRN045 True Unicornuate Uterus 13
1365 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 13
1366 c OVR118 Ovarian Dysgenesis 6 13
1367 SBM006 Submucosal Cleft Palate 13
1368 c HLL012 Hallermann-Streiff-Like Syndrome 13
1369 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
1370 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
1371 16P005 16p11.2p12.2 Microduplication Syndrome 13
1372 c OCY004 Oocyte Maturation Defect 3 13
1373 XLN145 X-Linked Intellectual Disability, Pai Type 13
1374 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 13
1375 LNG081 Longitudinal Vaginal Septum 13
1376 c PLY054 Polydactyly, Postaxial, Type A4 13
1377 LWR017 Lower Limb Malformation-Hypospadias Syndrome 13
1378 P PCH020 Pachyonychia Congenita, Autosomal Recessive 13
1379 MDL016 Midline Cervical Cleft 13
1380 c PRG096 Pregnancy Loss, Recurrent 2 13
1381 c SCL053 Sclerocornea, Autosomal Dominant 13
1382 c PRG093 Pregnancy Loss, Recurrent 3 13
1383 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 13
1384 5Q3001 5q35 Microduplication Syndrome 13
1385 ANR037 Aneurysm or Dilatation of Ascending Aorta 13
1386 CNG235 Congenital Microgastria 13
1387 CRN204 Craniofacial Conodysplasia 13
1388 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 13
1389 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 13
1390 c MTR060 Maternal Uniparental Disomy of Chromosome 9 13
1391 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
1392 ACH028 Acheiria 13
1393 CNG252 Congenital Non-Communicating Hydrocephalus 13
1394 CHR498 Chromosome 16p11.2 Duplication Syndrome 13
1395 ISL069 Isolated Micropenis 13
1396 HND012 Handigodu Joint Disease 13
1397 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 13
1398 ERL036 Early-Onset Posterior Subcapsular Cataract 13
1399 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 13
1400 c OCY006 Oocyte Maturation Defect 5 13
1401 CNG519 Congenital Gerbode Defect 13
1402 CNG335 Congenital Ectropion Uveae 13
1403 ART097 Aorto-Left Ventricular Tunnel 13
1404 MND008 Mandibular Arteriovenous Malformation 12
1405 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 12
1406 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 12
1407 FRS011 First Branchial Cleft Anomaly 12
1408 XLN142 X-Linked Intellectual Disability, Stevenson Type 12
1409 SYM014 Symbrachydactyly of Hands and Feet 12
1410 PRT087 Parietal Encephalocele 12
1411 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 12
1412 PRC041 Pericardial and Diaphragmatic Defect 12
1413 c CSK002 Cask-Related Intellectual Disability 12
1414 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 12
1415 46X015 46,xy Ovotesticular Disorder of Sex Development 12
1416 c SYN050 Syndactyly Type 6 12
1417 MTR050 Maternal Hyperthermia Induced Birth Defects 12
1418 HGH026 High Anorectal Malformation 12
1419 CRN194 Cranial Meningocele 12
1420 c PLY053 Polydactyly, Postaxial, Type A3 12
1421 c PTR019 Paternal Uniparental Disomy of Chromosome 5 12
1422 P ANT062 Anterior Urethral Valve 12
1423 URC013 Urachal Diverticulum 12
1424 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 12
1425 c ACR115 Acrorenal Syndrome, Autosomal Recessive 12
1426 c USH045 Usher Syndrome, Type Iv 12
1427 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 12
1428 5Q3002 5q31.3 Microdeletion Syndrome 12
1429 c TYP003 Type I Ehlers-Danlos Syndrome 12
1430 c MGL035 Megalencephaly, Autosomal Dominant 12
1431 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 12
1432 SHN001 Shone Complex 12
1433 13Q001 13q12.3 Microdeletion Syndrome 12
1434 ISL108 Isolated Splenogonadal Fusion 12
1435 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 12
1436 PRM238 Primary Intralymphatic Angioendothelioma 12
1437 PRP103 Peripapillary Staphyloma 12
1438 c HYP545 Hypospadias 3, Autosomal 12
1439 ETH013 Euthyroid Graves Orbitopathy 12
1440 ART095 Aortic Valve Atresia 12
1441 c JBR047 Joubert Syndrome 35 12
1442 c PTR015 Paternal Uniparental Disomy of Chromosome X 12
1443 ISL128 Isolated Microspherophakia 12
1444 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
1445 c AML063 Amelogenesis Imperfecta Type 2a1 12
1446 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 12
1447 CNT077 Central Bilateral Macrogyria 11
1448 RTR022 Retrocerebellar Cyst 11
1449 LWN002 Low Anorectal Malformation 11
1450 ABS016 Absence of the Pulmonary Artery 11
1451 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
1452 c PST093 Posterior Hypospadias 11
1453 c ORF023 Orofacial Cleft 4 11
1454 c ORF024 Orofacial Cleft 9 11
1455 c ORF020 Orofacial Cleft 12 11
1456 c SPN122 Spondylocostal Dysostosis 2 11
1457 c CNG253 Congenital Communicating Hydrocephalus 11
1458 c PRM168 Primary Syringomyelia 11
1459 c GRD008 Grid2-Related Spinocerebellar Ataxia 11
1460 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 11
1461 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 11
1462 NSL021 Nasal Encephalocele 11
1463 ART098 Aorto-Right Ventricular Tunnel 11
1464 c USH011 Usher Syndrome, Type 2b 11
1465 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 11
1466 CNG357 Congenital Symblepharon 11
1467 c FBL003 Fbln5-Related Cutis Laxa 11
1468 9Q3002 9q33.3q34.11 Microdeletion Syndrome 11
1469 FRT004 Fourth Branchial Cleft Anomaly 11
1470 MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 11
1471 c INF169 Infantile Epileptic Encephalopathy 59 11
1472 c CNG455 Congenital Aortopulmonary Window 11
1473 c SPN123 Spondylocostal Dysostosis 3 11
1474 c SPN124 Spondylocostal Dysostosis 4 11
1475 c ATS065 Autosomal Dominant Coarctation of Aorta 11
1476 ART130 Arthrogryposis with Hyperkeratosis 11
1477 c CNG257 Congenital Pulmonary Sequestration 11
1478 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
1479 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 10
1480 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 10
1481 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 10
1482 CRN261 Craniosynostosis-Cataract Syndrome 10
1483 LBR027 Laubry-Pezzi Syndrome 10
1484 CRV060 Cervical Dermoid Cyst 10
1485 c CNG343 Congenital Coronary Artery Aneurysm 10
1486 URC012 Urachal Sinus 10
1487 MSC090 Mosaic Trisomy 3 10
1488 c ISC013 Isochromosomy Yq 10
1489 c KMT002 Kmt2b-Related Dystonia 10
1490 GLS016 Glossopalatine Ankylosis 10
1491 JXT004 Juxtaposition of the Atrial Appendages 10
1492 CNG244 Congenital Laryngeal Cyst 10
1493 c OVR119 Ovarian Dysgenesis 7 10
1494 c ORF016 Orofacial Cleft 8 10
1495 c PLY178 Polydactyly, Postaxial, Type A8 10
1496 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 10
1497 HMR042 Humero-Ulnar Synostosis 10
1498 IDP062 Idiopathic Syringomyelia 10
1499 P VRC007 Varicella, Severe Recurrent 10
1500 c VSC043 Vesicoureteral Reflux 6 10
1501 c VSC042 Vesicoureteral Reflux 5 10
1502 c VSC041 Vesicoureteral Reflux 7 10
1503 c VSC040 Vesicoureteral Reflux 4 10
1504 c INF167 Infantile Epileptic Encephalopathy 57 10
1505 c INF168 Infantile Epileptic Encephalopathy 58 10
1506 c INF165 Infantile Epileptic Encephalopathy 56 10
1507 LWR014 Lower Limb Hypertrophy 10
1508 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 10
1509 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 10
1510 MGC005 Megacystis-Megaureter Syndrome 10
1511 c CNG346 Congenital Aortic Valve Insufficiency 10
1512 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 10
1513 CRN207 Coronary Sinus Stenosis 10
1514 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1515 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1516 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
1517 P HRN027 Hernia, Anterior Diaphragmatic 10
1518 c ZYG007 Zygodactyly Type 3 10
1519 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 10
1520 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 10
1521 ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 10
1522 PRS112 Persistent Eustachian Valve 10
1523 CNG277 Congenital Pseudoarthrosis of the Fibula 10
1524 c CNG433 Congenital Cornea Plana 10
1525 DST089 Distal Trisomy 3p 10
1526 c KRN003 Kernicterus Due to Isoimmunization 9
1527 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 9
1528 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 9
1529 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1530 c ACQ029 Acquired Porencephaly 9
1531 ULN014 Ulnar Hemimelia 9
1532 ISC011 Ischio-Vertebral Syndrome 9
1533 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1534 CNG282 Congenital Knee Dislocation 9
1535 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 9
1536 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
1537 c ZYG006 Zygodactyly Type 2 9
1538 THR083 Third Branchial Cleft Anomaly 9
1539 c MCR185 Macrodactyly of Toes 9
1540 CNG279 Congenital Pseudoarthrosis of the Ulna 9
1541 PRC042 Parachute Tricuspid Valve 9
1542 9P1001 9p13 Microdeletion Syndrome 9
1543 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 9
1544 PSD091 Pseudounicornuate Uterus 9
1545 MSC087 Mosaic Trisomy 4 9
1546 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 9
1547 c MWT002 Mowat-Wilson Syndrome Due to Monosomy 2q22 8
1548 MXL013 Maxillary Arteriovenous Malformation 8
1549 CRN208 Coronary Sinus Atresia 8
1550 INV017 Inverse Marcus-Gunn Phenomenon 8
1551 CNG278 Congenital Pseudoarthrosis of the Radius 8
1552 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 8
1553 CNG283 Congenital Pseudoarthrosis of the Femur 8
1554 MCR184 Macrodactyly of Fingers 8
1555 AML037 Amelia of Upper Limb 8
1556 PLR014 Pleuro-Pericardial Cyst 8
1557 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 8
1558 TBF001 Tibio-Fibular Synostosis 8
1559 MRN008 Marin-Amat Syndrome 8
1560 c GLL043 Galloway-Mowat Syndrome 2 8
1561 ECT107 Ectasia of the Left Atrial Appendage 8
1562 APD003 Apodia 8
1563 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 8
1564 CRD171 Cordiform Uterus 8
1565 ACC010 Accessory Tricuspid Valve Tissue 8
1566 3Q2004 3q26 Microduplication Syndrome 8
1567 MSC088 Mosaic Trisomy 5 8
1568 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1569 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
1570 PHK009 Phakomatosis Cesiomarmorata 8
1571 c PST077 Posterior Meningocele 8
1572 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 8
1573 BPR001 Bipartite Talus 8
1574 c ZYG005 Zygodactyly Type 4 8
1575 c CNG348 Congenital Sialidosis Type 2 7
1576 P JVN036 Juvenile Sialidosis Type 2 7
1577 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 7
1578 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
1579 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 7
1580 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
1581 PRN048 Prenatal Benign Hypophosphatasia 7
1582 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 7
1583 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 7
1584 DNC006 Diencephalic-Mesencephalic Junction Dysplasia 7
1585 DST085 Distal Trisomy 2q 7
1586 LRY034 Laryngotracheal Angioma 7
1587 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 7
1588 DST076 Distal Trisomy 13q 7
1589 c LRY051 Laryngotracheoesophageal Cleft Type 1 7
1590 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 7
1591 TRS020 Tarsal Kink Syndrome 7
1592 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1593 CNG318 Congenital Genu Recurvatum 7
1594 TNN014 Tunnel Subaortic Stenosis 7
1595 HMR031 Humeral Agenesis/hypoplasia 7
1596 CNG272 Congenital Achiasma 7
1597 c CNG476 Congenital Systemic Arteriovenous Fistula 7
1598 DST090 Distal Trisomy 2p 7
1599 ATS109 Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita 7
1600 HYP500 Hyperphalangy, Unilateral 7
1601 c LRY048 Laryngotracheoesophageal Cleft Type 0 7
1602 c MTR064 Maternal Uniparental Disomy of Chromosome 22 7
1603 PHK010 Phakomatosis Spilorosea 7
1604 DST078 Distal Trisomy 6q 7
1605 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
1606 DST081 Distal Trisomy 11q 7
1607 c TRR002 Trio-Related Intellectual Disability 7
1608 c WCR002 Wac-Related Intellectual Disability 7
1609 c SN3001 Sin3a-Related Intellectual Disability Syndrome 7
1610 UPP009 Upper Limb Hypertrophy 6
1611 3Q2006 3q27.3 Microdeletion Syndrome 6
1612 CNG287 Congenital Absence of Both Forearm and Hand 6
1613 EXT047 Extralobar Congenital Pulmonary Sequestration 6
1614 c MWT004 Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation 6
1615 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 6
1616 INT186 Intralobar Congenital Pulmonary Sequestration 6
1617 DST073 Distal Monosomy 7p 6
1618 DST069 Distal Monosomy 12q 6
1619 DST083 Distal Trisomy 9q 6
1620 CNG327 Congenital Epstein-Barr Virus Infection 6
1621 PRT111 Partial Septate Uterus 6
1622 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
1623 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
1624 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
1625 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 6
1626 INT254 Intermediate Anorectal Malformation 6
1627 DST057 Distal Trisomy 19q 6
1628 CNG289 Congenital Absence/hypoplasia of Thumb 6
1629 DST066 Distal Monosomy 20q 6
1630 DST058 Distal Monosomy 12p 6
1631 RDL019 Radio-Ulnar Synostosis, Unilateral 6
1632 c SCN046 Secondary Short Bowel Syndrome 6
1633 HYP501 Hyperphalangy, Bilateral 6
1634 c PRD024 Prader-Willi Syndrome Due to Translocation 6
1635 ISL034 Isolated Megalencephaly 6
1636 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 6
1637 CNG290 Congenital Absence of Both Lower Leg and Foot 6
1638 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
1639 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6
1640 ECT057 Ectasia of the Right Atrial Appendage 6
1641 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 6
1642 1P3003 1p35.2 Microdeletion Syndrome 6
1643 c ANG058 Angelman Syndrome Due to a Point Mutation 6
1644 20P002 20p13 Microdeletion Syndrome 6
1645 7Q3001 7q31 Microdeletion Syndrome 6
1646 DST054 Distal 17p13.3 Microdeletion Syndrome 6
1647 MDN007 Median Cleft Lip/mandibule 6
1648 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1649 14Q003 14q11.2 Microduplication Syndrome 6
1650 21Q001 21q22.11q22.12 Microdeletion Syndrome 6
1651 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 6
1652 DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6
1653 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
1654 4P1001 4p16.3 Microduplication Syndrome 6
1655 3Q2005 3q26q27 Microdeletion Syndrome 6
1656 RTN189 Retinal Capillary Malformation 6
1657 P ISL038 Isolated Focal Cortical Dysplasia Type Ib 6
1658 HMR036 Humero-Ulnar Synostosis, Unilateral 6
1659 BLK004 Blake Pouch Cyst 6
1660 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 6
1661 P CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 6
1662 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
1663 RDL020 Radio-Ulnar Synostosis, Bilateral 6
1664 DST088 Distal Trisomy 1p36 6
1665 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 6
1666 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 6
1667 CCH007 Cochleovestibular Dysplasia 6
1668 DST084 Distal Trisomy 8q 6
1669 CMP057 Complete Cryptophthalmia 6
1670 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
1671 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 6
1672 CHN052 Choanal Atresia, Bilateral 6
1673 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
1674 DST087 Distal Trisomy 7p 6
1675 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 6
1676 c ISL045 Isolated Focal Cortical Dysplasia Type I 6
1677 16Q002 16q24.1 Microdeletion Syndrome 6
1678 DST070 Distal Monosomy 4q 6
1679 12Q001 12q15q21.1 Microdeletion Syndrome 6
1680 HMR037 Humero-Ulnar Synostosis, Bilateral 6
1681 11P002 11p15.4 Microduplication Syndrome 6
1682 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 6
1683 14Q005 14q24.1q24.3 Microdeletion Syndrome 6
1684 9Q3001 9q31.1q31.3 Microdeletion Syndrome 6
1685 ISL022 Isolated Congenital Nasal Pyriform Aperture Stenosis 6
1686 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
1687 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 6
1688 CMM018 Common Mesentery 6
1689 DST074 Distal Trisomy 20q 6
1690 EXT043 External Auditory Canal Aplasia/hypoplasia 6
1691 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 6
1692 DST077 Distal Trisomy 22q 6
1693 ISL028 Isolated Cerebellar Vermis Hypoplasia 6
1694 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 6
1695 DST075 Distal Trisomy 16q 6
1696 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 6
1697 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 6
1698 c CNT094 Cantú Syndrome and Related Disorders 6
1699 ISL079 Isolated Encephalocele 5
1700 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1701 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1702 16P011 16p12.1p12.3 Triplication Syndrome 5
1703 ART099 Aortic Valve Dysplasia 5
1704 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 5
1705 DST067 Distal Monosomy 14q 5
1706 ATY020 Atypical Norrie Disease Due to Monosomy Xp11.3 5
1707 c PTR020 Paternal Uniparental Disomy of Chromosome 20 5
1708 NND009 Non-Distal Trisomy 9q 5
1709 2Q3006 2q31.1 Microduplication Syndrome 5
1710 MSC079 Mosaic Trisomy 1 5
1711 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
1712 MCR188 Macrodactyly of Fingers, Unilateral 5
1713 CNG334 Congenital Esophageal Diverticulum 5
1714 XYL001 Xylt1-Cdg 5
1715 NND006 Non-Distal Monosomy 20q 5
1716 MCR190 Macrodactyly of Toes, Unilateral 5
1717 DGS007 Digestive Duplication 5
1718 c BRN138 Branchiootorenal Spectrum Disorder 5
1719 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 5
1720 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
1721 NND007 Non-Distal Monosomy 12q 5
1722 NND008 Non-Distal Monosomy 7p 5
1723 ISL029 Isolated Anorectal Malformation 5
1724 AGN009 Agenesis and Aplasia of Uterine Body 5
1725 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1726 PRM160 Premature Closure of the Arterial Duct 5
1727 DYS128 Dysplasia of Head of Femur, Meyer Type 5
1728 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
1729 MDL018 Madelung Deformity, Unilateral 5
1730 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 5
1731 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 5
1732 ISL056 Isolated Lissencephaly Type 1 Without Known Genetic Defects 5
1733 20Q002 20q11.2 Microduplication Syndrome 5
1734 UNL009 Unilateral Congenital Megacalycosis 5
1735 ISL071 Isolated Congenital Ectropion 5
1736 P LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 5
1737 CNG517 Congenital Agenesis of the Scrotum 5
1738 ERL027 Early-Onset Non-Syndromic Cataract 5
1739 CNG353 Congenital Partial Agenesis of Pericardium 5
1740 FCL034 Facial Dermoid Cyst 5
1741 ISL051 Isolated Partial Cerebellar Vermis Agenesis 5
1742 c ISL052 Isolated Total Cerebellar Vermis Agenesis 5
1743 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 5
1744 CNG354 Congenital Complete Agenesis of Pericardium 5
1745 CHR512 Cheirospondyloenchondromatosis 5
1746 UNL012 Unilateral Hemispheric Polymicrogyria 5
1747 CHN051 Choanal Atresia, Unilateral 5
1748 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
1749 P ISL048 Isolated Cerebellar Vermis Agenesis 5
1750 TRC084 Tricuspid Valve Agenesis 5
1751 CNG536 Congenital Stenosis or Atresia of the Coronary Ostium 5
1752 LWR011 Lower Lip Fistula 5
1753 AML036 Amelia of Lower Limb 5
1754 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 5
1755 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 5
1756 CNG280 Congenital Shoulder Dislocation 5
1757 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
1758 CMM016 Commissural Lip Fistula 5
1759 SBC038 Sub-Cortical Nodular Heterotopia 5
1760 UTR055 Uterine Cervical Aplasia and Agenesis 5
1761 CNG391 Congenital Pseudoarthrosis of the Limbs 5
1762 ISL117 Isolated Congenital Radial Head Dislocation 5
1763 CNG331 Congenital Bilateral Megacalycosis 5
1764 MDL017 Madelung Deformity, Bilateral 5
1765 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 5
1766 PRT091 Partial Cryptophthalmia 5
1767 ERL042 Early-Onset Partial Cataract 5
1768 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 5
1769 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
1770 ISL044 Isolated Arhinencephaly 4
1771 OPN003 Open Iniencephaly 4
1772 HYP506 Hypoplasia of the Mitral Valve Annulus 4
1773 INT219 Intramural Coronary Arterial Course 4
1774 ISL106 Isolated Congenital Microcephaly 4
1775 CLS021 Closed Iniencephaly 4
1776 2P1003 2p13.2 Microdeletion Syndrome 4
1777 c PTR023 Paternal Uniparental Disomy of Chromosome 13 4
1778 MCR187 Macrodactyly of Fingers, Bilateral 4
1779 ISL107 Isolated Congenital Syngnathia 4
1780 c PTR021 Paternal Uniparental Disomy of Chromosome 21 4
1781 c PTR022 Paternal Uniparental Disomy of Chromosome 7 4
1782 c PRM147 Primary Megaureter, Adult-Onset Form 4
1783 INT332 Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome 4
1784 MCR189 Macrodactyly of Toes, Bilateral 4
1785 4Q2002 4q25 Proximal Deletion Syndrome 4
1786 MYB004 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome 4
1787 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1788 c MTR079 Maternal Uniparental Disomy of Chromosome 13 4
1789 ENC035 Encircling Double Aortic Arch 4
1790 CNG316 Congenital Vertical Talus, Bilateral 4
1791 LWM001 Low Implantation of Placenta 4
1792 CNG315 Congenital Vertical Talus, Unilateral 4
1793 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 4
1794 P TSS001 Tessier Number 5 Facial Cleft 4
1795 c MTR065 Maternal Uniparental Disomy of Chromosome 21 4
1796 OVR117 Overgrowth Syndrome with 2q37 Translocation 4
1797 ISL126 Isolated Iridoschisis 4
1798 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 4
1799 ANM025 Anomaly of the Mitral Subvalvular Apparatus 4
1800 CNG360 Congenital Unguarded Mitral Orifice 4
1801 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
1802 NSL016 Nasal Dorsum Fistula/cyst 4
1803 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 4
1804 ISL127 Isolated Blepharochalasis 4
1805 XLN147 X-Linked Intellectual Disability, Stoll Type 4
1806 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 4
1807 PNN004 Pinnae Fistula or Cyst 4
1808 SPR109 Supratip Dysplasia 4
1809 ISL130 Isolated Congenital Entropion 4
1810 LPT012 Leptomyelolipoma 4
1811 SPR139 Superior Celosomia 4
1812 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 4
1813 PRT109 Partially Involuting Congenital Hemangioma 4
1814 MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 4
1815 CRN206 Coronary Artery Intramyocardial Course 4
1816 DSC011 Discrete Fibromuscular Subaortic Stenosis 4
1817 CNG361 Congenital Supravalvular Mitral Ring 4
1818 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1819 CNG270 Congenital Primary Megaureter, Obstructed Form 4
1820 ABN010 Abnormal Number of Coronary Ostia 4
1821 ART114 Aortopulmonary Coronary Arterial Course 4
1822 MTR068 Mitral Valve Agenesis 4
1823 FRN038 Frontonasal Arteriovenous Malformation 4
1824 ISL035 Isolated Amyelia 4
1825 STR076 Straddling and/or Overriding Mitral Valve 4
1826 CRV059 Cervicofacial Fibrochondroma 4
1827 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
1828 MLP005 Malposition of the Coronary Ostium 4
1829 XLN226 X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome 4
1830 LTH040 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome 4
1831 XLN157 X-Linked Intellectual Disability, Porteous Type 4
1832 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 4
1833 ISL132 Isolated Megalopapilla 4
1834 STR075 Straddling or Overriding Tricuspid Valve 4
1835 NNT001 Neonatal Infective Mastitis 4
1836 MDN006 Median Cleft of the Upper Lip and Maxilla 3
1837 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 3
1838 CNG317 Congenital Genu Flexum 3
1839 CNG321 Congenital Elbow Dislocation, Bilateral 3
1840 CNG322 Congenital Elbow Dislocation, Unilateral 3
1841 c TSS003 Tessier Number 6 Facial Cleft 3
1842 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3
1843 TBL020 Tubular Duplication of the Esophagus 3
1844 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 3
1845 GLP005 Glioependymal/ependymal Cyst 3
1846 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 3
1847 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3
1848 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 3
1849 EMB004 Embryonal Carcinoma 58
1850 PRL032 Perlman Syndrome 51
1851 c WLM011 Wilms Tumor 6 48
1852 P HRD009 Hereditary Wilms' Tumor 38
1853 c WLM005 Wilms Tumor 2 28
1854 c WLM018 Wilms Tumor 5 19
1855 c WLM017 Wilms Tumor 4 18
1856 c WLM015 Wilms Tumor 3 15
1857 c FML094 Familial Wilms Tumor 2 7
1858 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 41
1859 c CNG133 Congenital Varicella Syndrome 29
1860 TWN001 Twin-to-Twin Transfusion Syndrome 49
1861 FTL009 Fetal Akinesia Deformation Sequence 56
1862 DTH005 Diethylstilbestrol Syndrome 26
1863 IMM039 Immune Hydrops Fetalis 36
1864 FTL011 Fetal Aminopterin Syndrome 10
1865 FTL018 Fetal Indomethacin Syndrome 16
1866 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 14
1867 TST033 Testicular Regression Syndrome 33
1868 EMB015 Embryonal Tumor with Multilayered Rosettes 27
1869 P END039 Endodermal Sinus Tumor 48
1870 TRT001 Teratocarcinoma 46
1871 GCH018 Gaucher Disease, Perinatal Lethal 45
1872 c ADL047 Adult Endodermal Sinus Tumor 10
1873 MRS006 Morse-Rawnsley-Sargent Syndrome 5
1874 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 37
1875 P BTR001 Botryoid Rhabdomyosarcoma 35
1876 FTL024 Fetal Minoxidil Syndrome 15
1877 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 14
1878 PHN013 Phenobarbital Antenatal Exposure 8
1879 c ADL031 Adult Botryoid Rhabdomyosarcoma 6
1880 GRM005 Germ Cell Cancer 52
1881 BWN001 Bowen-Conradi Syndrome 51
1882 c CNG124 Congenital Rubella 49
1883 EMB007 Embryonal Sarcoma 47
1884 c ANT086 Anterior Segment Dysgenesis 2 39
1885 FTL064 Fetal Methylmercury Syndrome 26
1886 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 25
1887 AMN014 Aminopterin Syndrome Sine Aminopterin 24
1888 HRS002 Hersh Podruch Weisskopk Syndrome 22
1889 MTR016 Maternal Hyperphenylalaninemia 21
1890 CCN012 Cocaine Antenatal Exposure 18
1891 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 14
1892 NNT022 Neonatal Ovarian Cyst 12
1893 P FTL014 Fetal Brain Disruption Sequence 11
1894 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 8
1895 SMM002 Semmekrot Haraldsson Weemaes Syndrome 3
1896 FTL017 Fetal Enterovirus Syndrome 3
1897 P CWD001 Cowden Disease 71
1898 APR006 Apert Syndrome 69
1899 P CNG411 Congenital Disorder of Glycosylation, Type in 66
1900 c MCL062 Mucolipidosis Ii Alpha/beta 66
1901 P DYS154 Dystonia 65
1902 P HYP055 Hypoplastic Left Heart Syndrome 63
1903 P CRN015 Cornelia De Lange Syndrome 62
1904 P MLG056 Malignant Hyperthermia 62
1905 P MCL013 Mucolipidosis Iv 61
1906 P LYS001 Loeys-Dietz Syndrome 61
1907 P INT068 Intestinal Disease 60
1908 PTR032 Peters-Plus Syndrome 60
1909 P INT099 Intrahepatic Cholestasis of Pregnancy 60
1910 PLM070 Pulmonic Stenosis 60
1911 OCL020 Ocular Cicatricial Pemphigoid 59
1912 DNH001 Donohue Syndrome 59
1913 c VSC019 Vesicoureteral Reflux 1 59
1914 PLC005 Placental Insufficiency 59
1915 P PLY006 Polydactyly 59
1916 c SVR001 Severe Acute Respiratory Syndrome 59
1917 c GLC097 Glaucoma 3, Primary Congenital, a 58
1918 SMT008 Smith-Magenis Syndrome 58
1919 PTN001 Patent Foramen Ovale 58
1920 GRG001 Greig Cephalopolysyndactyly Syndrome 58
1921 CNT061 Conotruncal Heart Malformations 58
1922 CHR619 Chromosome 2q35 Duplication Syndrome 58
1923 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 58
1924 P STC001 Stickler Syndrome 56
1925 P AXN002 Axenfeld-Rieger Syndrome 56
1926 PLC008 Placenta Disease 56
1927 P SYP003 Syphilis 56
1928 P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 56
1929 P STS008 Sotos Syndrome 1 56
1930 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56
1931 P HYD033 Hydrolethalus Syndrome 1 56
1932 P SLV001 Silver-Russell Syndrome 55
1933 GRN034 Grange Syndrome 55
1934 c MYT020 Myotonic Dystrophy 2 55
1935 P SCK004 Seckel Syndrome 55
1936 PRR016 Pierre Robin Syndrome 55
1937 ACR011 Acromesomelic Dysplasia, Maroteaux Type 55
1938 MCK005 Mckusick-Kaufman Syndrome 54
1939 EBS001 Ebstein Anomaly 54
1940 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 54
1941 MCN017 Meconium Ileus 54
1942 c BRC078 Brachydactyly, Type A1 54
1943 c BRC051 Brachydactyly, Type B1 54
1944 PHL006 Phelan-Mcdermid Syndrome 54
1945 P VND007 Van Der Woude Syndrome 1 54
1946 FRY006 Fryns Microphthalmia Syndrome 53
1947 P INT070 Intestinal Obstruction 53
1948 ECT026 Ectopic Pregnancy 53
1949 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
1950 VTM027 Vitamin D-Dependent Rickets, Type 2a 53
1951 P PTS002 Ptosis 52
1952 c BRD012 Bardet-Biedl Syndrome 11 52
1953 c HYP293 Hypophosphatasia, Adult 52
1954 MCS006 Macs Syndrome 52
1955 P WLL002 Weill-Marchesani Syndrome 52
1956 P MGL013 Megalencephaly 52
1957 P NLD001 Nail Disease 51
1958 CHR101 Char Syndrome 51
1959 c BRC109 Brachydactyly, Type E1 51
1960 c HYP292 Hypophosphatasia, Infantile 51
1961 c PST041 Posterior Urethral Valves 50
1962 P CLB034 Coloboma, Ocular, Autosomal Dominant 50
1963 DBL002 Double Outlet Right Ventricle 50
1964 DXT001 Dextrocardia 50
1965 c ART120 Arthrogryposis, Distal, Type 3 50
1966 c RNG023 Ring Chromosome 7 50
1967 CTS011 Cutis Marmorata Telangiectatica Congenita 50
1968 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 50
1969 CRD002 Cri-Du-Chat Syndrome 50
1970 P GND004 Gonadal Dysgenesis 50
1971 P PRX021 Proximal Symphalangism 49
1972 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1973 c SPN293 Spinocerebellar Ataxia 12 49
1974 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 49
1975 GLD006 Goldberg-Shprintzen Syndrome 49
1976 P PRN026 Porencephaly 49
1977 HMH004 Hemihyperplasia, Isolated 49
1978 c RNL122 Renal Hypodysplasia/aplasia 3 49
1979 STP011 Stapes Ankylosis with Broad Thumbs and Toes 48
1980 c BRC079 Brachydactyly, Type A2 48
1981 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 48
1982 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 48
1983 P SYN075 Syngnathia 48
1984 c PNC106 Pancreatic Agenesis 1 48
1985 MYP136 Myopathy, Centronuclear, X-Linked 48
1986 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 48
1987 c SPN312 Spinocerebellar Ataxia 14 47
1988 P MRD002 Marden-Walker Syndrome 47
1989 P CRN074 Coronary Artery Aneurysm 47
1990 MCR037 Macroglossia 47
1991 c BNM029 Bone Mineral Density Quantitative Trait Locus 15 47
1992 TRP014 Triploidy 47
1993 MLT134 Multiple Pterygium Syndrome, Lethal Type 47
1994 GLC106 Glucocorticoid Resistance, Generalized 47
1995 CHR594 Chromosome 3q29 Deletion Syndrome 47
1996 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
1997 c HLP023 Holoprosencephaly 1 47
1998 RNL078 Renal Dysplasia 47
1999 TTR011 Tetraploidy 47
2000 c 46X001 46 Xy Gonadal Dysgenesis 46
2001 HYP231 Hypothalamic Hamartomas 46
2002 KPS002 Kaposiform Hemangioendothelioma 46
2003 c RBN009 Robinow Syndrome, Autosomal Recessive 46
2004 CHR492 Chromosome 13q14 Deletion Syndrome 46
2005 P MLT072 Multiple Synostoses Syndrome 46
2006 P CRN276 Corneal Endothelial Dystrophy 46
2007 c SPN100 Spinocerebellar Ataxia 27 45
2008 PLM041 Pulmonary Valve Stenosis 45
2009 c AML044 Amelogenesis Imperfecta, Type Ig 45
2010 c MYS051 Myasthenic Syndrome, Congenital, 5 45
2011 c ATS082 Autosomal Dominant Robinow Syndrome 45
2012 GST052 Gestational Choriocarcinoma 45
2013 P BRC015 Bruck Syndrome 45
2014 c LKD010 Leukodystrophy, Hypomyelinating, 2 45
2015 c BRD011 Bardet-Biedl Syndrome 10 45
2016 CHR211 Chromosome 18p Deletion Syndrome 45
2017 c BRN108 Branchiootic Syndrome 1 45
2018 P CHN044 Chondrodysplasia Punctata Syndrome 44
2019 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 44
2020 c SPN103 Spinocerebellar Ataxia 31 44
2021 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 44
2022 TRS002 Tarsal-Carpal Coalition Syndrome 44
2023 PST049 Postaxial Acrofacial Dysostosis 44
2024 c BRD020 Bardet-Biedl Syndrome 8 44
2025 c BRC081 Brachydactyly, Type C 44
2026 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 44
2027 c BRC052 Brachydactyly, Type B2 44
2028 HRT030 Hartsfield Syndrome 44
2029 c ANT077 Anterior Segment Dysgenesis 1 44
2030 TKL001 Tukel Syndrome 44
2031 HND004 Hand-Foot-Genital Syndrome 43
2032 c CRN243 Carney Complex, Type 1 43
2033 P MSC022 Mosaic Variegated Aneuploidy Syndrome 43
2034 P PLY147 Polydactyly, Postaxial, Type A1 43
2035 DXT002 Dextrocardia with Situs Inversus 43
2036 c SPN265 Spinocerebellar Ataxia 36 43
2037 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 43
2038 LCR013 Lacrimal Duct Defect 43
2039 c LRS002 Larsen-Like Syndrome 43
2040 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 43
2041 c SCL042 Sclerosteosis 2 43
2042 MYP151 Myopathy, Congenital, Bailey-Bloch 42
2043 c ATS282 Autosomal Recessive Malignant Osteopetrosis 42
2044 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 42
2045 P HRD001 Hereditary Multiple Exostoses 42
2046 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
2047 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
2048 46X012 46,xy Partial Gonadal Dysgenesis 42
2049 c LPD019 Lipodystrophy, Partial, Acquired 42
2050 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 42
2051 c MCP047 Mucopolysaccharidosis, Type Iva 42
2052 FBL002 Fibular Hypoplasia and Complex Brachydactyly 42
2053 c SPN330 Spondylocostal Dysostosis 5 41
2054 CRR002 Currarino Syndrome 41
2055 PTC002 Potocki-Lupski Syndrome 41
2056 TRC062 Tricuspid Atresia 41
2057 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 41
2058 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
2059 ASP004 Asphyxia Neonatorum 41
2060 c BRD018 Bardet-Biedl Syndrome 6 41
2061 P KLN006 Koolen-De Vries Syndrome 41
2062 ASC009 Ascites, Chylous 41
2063 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 41
2064 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 41
2065 c SPN308 Spinocerebellar Ataxia 28 41
2066 P PNC045 Pancreatic Agenesis 40
2067 47X002 47,xyy 40
2068 EPD022 Epidermolysis Bullosa Pruriginosa 40
2069 c BRD017 Bardet-Biedl Syndrome 5 40
2070 c EPP014 Epiphyseal Dysplasia, Multiple, 4 40
2071 c SCN006 Secondary Syphilis 40
2072 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
2073 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 40
2074 LRN006 Laurin-Sandrow Syndrome 40
2075 TRP009 Triple X Syndrome 40
2076 c SCN005 Secondary Hypertrophic Osteoarthropathy 40
2077 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 40
2078 DND001 Dandy-Walker Syndrome 40
2079 CRN049 Craniolenticulosutural Dysplasia 40
2080 FNT005 Fontaine Progeroid Syndrome 40
2081 CHR518 Chromosome 9p Deletion Syndrome 40
2082 DYG001 Dyggve-Melchior-Clausen Disease 40
2083 SLF014 Sulfite Oxidase Deficiency, Isolated 39
2084 c ADM005 Adams-Oliver Syndrome 1 39
2085 NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 39
2086 c ANT071 Anterior Segment Dysgenesis 4 39
2087 c SPL024 Split-Hand/foot Malformation 3 39
2088 P SPL061 Split Hand-Foot Malformation 39
2089 MXL016 Maxillonasal Dysplasia, Binder Type 39
2090 P MNN007 Meningocele 39
2091 P SYN012 Synpolydactyly 38
2092 MLT084 Multicystic Dysplastic Kidney 38
2093 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 38
2094 BLR027 Blue Rubber Bleb Nevus 38
2095 c LSS006 Lissencephaly 2 38
2096 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 38
2097 c RNG004 Ring Chromosome 1 38
2098 DST033 Distichiasis 38
2099 CRY032 Carey-Fineman-Ziter Syndrome 38
2100 c PCH012 Pachyonychia Congenita 2 38
2101 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 38
2102 RVL002 Ruvalcaba Syndrome 38
2103 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
2104 EMN001 Emanuel Syndrome 37
2105 c CNG413 Congenital Short Bowel Syndrome 37
2106 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 37
2107 P BRN042 Branchiootic Syndrome 37
2108 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 37
2109 c RNG020 Ring Chromosome 4 37
2110 CHR075 Choriocarcinoma of Ovary 37
2111 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 37
2112 RNL025 Renal Hypoplasia 37
2113 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 37
2114 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 36
2115 EMP011 Emphysema, Congenital Lobar 36
2116 c PRN053 Porencephaly 1 36
2117 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
2118 CHR659 Chromosome 22q11.2 Duplication Syndrome 36
2119 c SPN299 Spinocerebellar Ataxia 20 36
2120 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
2121 BSM002 Bosma Arhinia Microphthalmia Syndrome 36
2122 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 36
2123 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 36
2124 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 36
2125 c SPN247 Spinocerebellar Ataxia Type 19/22 36
2126 c PGT007 Paget Disease of Bone 3 36
2127 P CRB154 Cerebrocostomandibular Syndrome 36
2128 CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 36
2129 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 36
2130 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 35
2131 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
2132 DSM002 Desmosterolosis 35
2133 c FML294 Familial Short Qt Syndrome 35
2134 SCH071 Schaaf-Yang Syndrome 35
2135 JBR005 Joubert Syndrome with Ocular Anomalies 35
2136 END059 Endocrine-Cerebroosteodysplasia 35
2137 PRG123 Progeroid Syndrome, Neonatal 35
2138 KGM001 Kagami-Ogata Syndrome 35
2139 BNB002 Bainbridge-Ropers Syndrome 35
2140 c SCL045 Sclerosteosis 1 35
2141 PLT007 Palatopharyngeal Incompetence 35
2142 FMR018 Femoral-Facial Syndrome 35
2143 P SYN059 Syndactyly, Type V 35
2144 TMP012 Temple Syndrome 35
2145 MSC020 Mosaic Trisomy 8 35
2146 49X002 49,xxxxy Syndrome 35
2147 P MXD016 Mixed Gonadal Dysgenesis 35
2148 c PCH010 Pachyonychia Congenita 3 35
2149 P ACR106 Acrocephalopolysyndactyly Type Iii 34
2150 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 34
2151 TRP006 Tarp Syndrome 34
2152 c SPN266 Spinocerebellar Ataxia 35 34
2153 LMB008 Limb-Mammary Syndrome 34
2154 FML307 Familial Calcium Pyrophosphate Deposition 34
2155 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
2156 PLC006 Placental Choriocarcinoma 34
2157 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 34
2158 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
2159 HMF010 Hemifacial Microsomia with Radial Defects 33
2160 ANR010 Aneurysm of Sinus of Valsalva 33
2161 CHR582 Chromosome 3q29 Duplication Syndrome 33
2162 PRT048 Partial Atrioventricular Canal 33
2163 c SPN383 Spinocerebellar Ataxia 42 33
2164 TRC035 Tracheal Agenesis 33
2165 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
2166 PLY036 Polyembryoma 33
2167 OCL033 Oculocerebral Syndrome with Hypopigmentation 33
2168 OCL039 Oculoectodermal Syndrome 33
2169 ASP026 Asplenia, Isolated Congenital 33
2170 48X003 48,xxyy Syndrome 33
2171 OCL048 Oculoauricular Syndrome 33
2172 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 33
2173 LMB010 Lambert Syndrome 33
2174 c MCR329 Microcephaly, Autosomal Dominant 33
2175 TTR012 Tetrasomy 9p 33
2176 CHR525 Chromosome Xq26.3 Duplication Syndrome 33
2177 P MTP005 Metaphyseal Anadysplasia 33
2178 c RNG008 Ring Chromosome 13 32
2179 SLT005 Solitary Median Maxillary Central Incisor 32
2180 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 32
2181 CNG134 Congenitally Corrected Transposition of the Great Arteries 32
2182 ATY016 Atypical Werner Syndrome 32
2183 c SPN095 Spinocerebellar Ataxia 19 32
2184 BLR028 Biliary Atresia, Extrahepatic 32
2185 P ALB023 Albinism, Ocular, with Sensorineural Deafness 32
2186 c LSS037 Lissencephaly, X-Linked, 2 32
2187 CYL001 Cayler Cardiofacial Syndrome 32
2188 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 32
2189 c RNG018 Ring Chromosome 22 32
2190 PRG023 Progeroid Short Stature with Pigmented Nevi 32
2191 c KNN009 Kenny-Caffey Syndrome, Type 1 32
2192 c DYS039 Dyskeratosis Congenita Autosomal Dominant 32
2193 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
2194 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 31
2195 P VNM004 Van Maldergem Syndrome 31
2196 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 31
2197 P FML284 Familial Vesicoureteral Reflux 31
2198 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
2199 c SPN099 Spinocerebellar Ataxia 26 31
2200 P PRD037 Periodontal Ehlers-Danlos Syndrome 31
2201 P PLY148 Polydactyly, Preaxial Ii 31
2202 c MCR211 Microphthalmia, Isolated 6 31
2203 c CCK002 Cockayne Syndrome Type I 31
2204 c PRT059 Parietal Foramina 1 31
2205 MSC021 Mosaic Trisomy 9 31
2206 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 31
2207 OCL063 Oculopharyngodistal Myopathy 31
2208 PLM058 Pulmonary Atresia with Intact Ventricular Septum 31
2209 P ANG013 Angioma Serpiginosum 31
2210 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 31
2211 P MCR122 Microphthalmia, Isolated 5 31
2212 c SPN284 Spinocerebellar Ataxia 38 31
2213 c OMD001 Omodysplasia 1 31
2214 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 31
2215 CLV004 Calvarial Hyperostosis 31
2216 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 31
2217 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
2218 c PNT032 Pontocerebellar Hypoplasia, Type 9 31
2219 PSD046 Pseudotrisomy 13 Syndrome 30
2220 c BRD019 Bardet-Biedl Syndrome 7 30
2221 OST062 Osteoarthritis with Mild Chondrodysplasia 30
2222 GLM012 Glomuvenous Malformations 30
2223 HYP674 Hyperostosis Cranialis Interna 30
2224 MSM016 Mesomelic Dysplasia, Kantaputra Type 30
2225 PRT049 Partial Deletion of Y 30
2226 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 30
2227 CMP035 Complete Atrioventricular Canal 30
2228 TBL008 Tibial Hemimelia 30
2229 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 30
2230 c ALG016 Alagille Syndrome 2 30
2231 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
2232 CYS041 Cystic Angiomatosis of Bone, Diffuse 30
2233 INN003 Iniencephaly 30
2234 KLB005 Kleeblattschaedel 30
2235 MTP028 Metaphyseal Dysplasia, Spahr Type 30
2236 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
2237 c STC013 Stickler Syndrome, Type Ii 30
2238 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 30
2239 c HRD198 Hereditary Dystonia 30
2240 NNG001 Non-Gestational Choriocarcinoma 30
2241 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 30
2242 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
2243 c DYS040 Dyskeratosis Congenita Autosomal Recessive 30
2244 INF133 Inferior Vena Cava Interruption 30
2245 c SYN061 Syndactyly, Type Iv 29
2246 WLD004 Wildervanck Syndrome 29
2247 MCH011 Meacham Syndrome 29
2248 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 29
2249 NBL001 Nablus Mask-Like Facial Syndrome 29
2250 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
2251 c RNG017 Ring Chromosome 21 29
2252 c SPN098 Spinocerebellar Ataxia 25 29
2253 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 29
2254 FRN022 Frontofacionasal Dysplasia 29
2255 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 29
2256 P BNM015 Bone Mineral Density Quantitative Trait Locus 18 29
2257 OCL040 Oculomaxillofacial Dysostosis 29
2258 ISD002 Isodicentric Chromosome 15 Syndrome 29
2259 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 29
2260 c RNG022 Ring Chromosome 6 29
2261 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 29
2262 CHR265 Chromosome 8p Duplication 29
2263 MND023 Mend Syndrome 29
2264 c CRN277 Craniosynostosis 2 29
2265 c VHW003 Vohwinkel Syndrome, Variant Form 29
2266 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 29
2267 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 28
2268 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
2269 ACR099 Acrofacial Dysostosis, Catania Type 28
2270 CHR225 Chromosome 1q21.1 Duplication Syndrome 28
2271 c MTR080 Mitral Valve Prolapse 1 28
2272 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 28
2273 P ZMM001 Zimmermann-Laband Syndrome 28
2274 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
2275 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
2276 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 28
2277 CHN040 Choanal Atresia and Lymphedema 28
2278 c SPN286 Spinocerebellar Ataxia 40 28
2279 MLL011 Mullerian Aplasia and Hyperandrogenism 28
2280 c ADM007 Adams-Oliver Syndrome 2 28
2281 c DYS059 Dystonia 16 28
2282 c JBR026 Joubert Syndrome 15 28
2283 CDL005 Caudal Duplication Anomaly 28
2284 c ANT084 Anterior Segment Dysgenesis 3 28
2285 BRN055 Bronchogenic Cyst 28
2286 HRY005 Hairy Elbows 28
2287 c RNG029 Ring Chromosome 14 Syndrome 28
2288 CHR209 Chromosome 17p Duplication 28
2289 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28
2290 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 28
2291 c MCR245 Microphthalmia, Syndromic 8 28
2292 c CRN134 Cornelia De Lange Syndrome 2 28
2293 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
2294 c FRN049 Frontometaphyseal Dysplasia 1 27
2295 CHR229 Chromosome 20p Duplication 27
2296 c PLY149 Polydactyly, Preaxial Iv 27
2297 CRD017 Cardiac Valvular Dysplasia, X-Linked 27
2298 P HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 27
2299 c 46X057 46,xy Sex Reversal 8 27
2300 RCM003 Recombinant Chromosome 8 Syndrome 27
2301 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 27
2302 c RNG007 Ring Chromosome 12 27
2303 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 27
2304 c SPN372 Spinocerebellar Ataxia 43 27
2305 CLF051 Cleft Larynx, Posterior 27
2306 c DNT021 Dent Disease 2 27
2307 c SNG011 Singleton-Merten Syndrome 1 27
2308 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 27
2309 c ADM010 Adams-Oliver Syndrome 5 27
2310 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 27
2311 c RNG016 Ring Chromosome 20 27
2312 AKL001 Au-Kline Syndrome 27
2313 c RNG005 Ring Chromosome 10 27
2314 c SMT018 Smith-Mccort Dysplasia 2 27
2315 PRM206 Premature Aging Syndrome, Penttinen Type 27
2316 MSC016 Mosaic Trisomy 14 27
2317 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 27
2318 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 27
2319 c LTC001 Late Congenital Syphilis 27
2320 CHR270 Chromosome 9p Duplication 27
2321 c LKD020 Leukodystrophy, Hypomyelinating, 10 27
2322 c PCH011 Pachyonychia Congenita 4 27
2323 RMR001 Ramer Ladda Syndrome 27
2324 HYP682 Hypertelorism, Teebi Type 27
2325 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 27
2326 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 26
2327 PGD001 Pagod Syndrome 26
2328 CHR523 Chromosome 15q11.2 Deletion Syndrome 26
2329 49X001 49, Xxxxx 26
2330 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 26
2331 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 26
2332 c SYN060 Syndactyly, Type Iii 26
2333 CHR524 Chromosome 16p13.3 Duplication Syndrome 26
2334 c BRC099 Brachydactyly, Type A4 26
2335 DPH012 Diphallia 26
2336 c MCR252 Microphthalmia, Syndromic 5 26
2337 PNC104 Pancreatic and Cerebellar Agenesis 26
2338 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 26
2339 HYP648 Hypertension and Brachydactyly Syndrome 26
2340 HGH023 High Bone Mass Osteogenesis Imperfecta 26
2341 c CRN110 Cranioectodermal Dysplasia 3 26
2342 c LYS020 Loeys-Dietz Syndrome 5 26
2343 HYP180 Hypertrichosis Lanuginosa Congenita 26
2344 c PGT009 Paget Disease of Bone 2, Early-Onset 26
2345 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 26
2346 c TRS012 Trisomy 22 26
2347 c FRN048 Frontometaphyseal Dysplasia 2 26
2348 c PNT030 Pontocerebellar Hypoplasia, Type 8 26
2349 BLP041 Blepharochalasis and Double Lip 26
2350 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 26
2351 c LKD022 Leukodystrophy, Hypomyelinating, 13 26
2352 c BRD021 Bardet-Biedl Syndrome 9 26
2353 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 26
2354 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 26
2355 c OMD002 Omodysplasia 2 26
2356 c RNG015 Ring Chromosome 2 26
2357 MCR067 Microcoria, Congenital 26
2358 c CCK004 Cockayne Syndrome Type Iii 26
2359 CHR268 Chromosome 8q Duplication 26
2360 HRD037 Hardikar Syndrome 26
2361 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 26
2362 TTR013 Tetrasomy X 26
2363 c PRT063 Proteus-Like Syndrome 26
2364 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 26
2365 CHR266 Chromosome 8p23.1 Deletion 26
2366 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 26
2367 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 26
2368 c ACR105 Acrofrontofacionasal Dysostosis 2 26
2369 P RNL123 Renal Agenesis, Bilateral 26
2370 DFF022 Diffuse Neonatal Hemangiomatosis 26
2371 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 25
2372 PLY135 Polydactyly, Postaxial, with Progressive Myopia 25
2373 LBN004 Liebenberg Syndrome 25
2374 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 25
2375 SHR108 Short Stature, Idiopathic, X-Linked 25
2376 CHR159 Charlie M Syndrome 25
2377 CHR588 Chromosome 8q22.1 Duplication Syndrome 25
2378 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 25
2379 ART030 Aortic Arch Interruption 25
2380 c RNG024 Ring Chromosome 8 25
2381 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 25
2382 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 25
2383 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 25
2384 16Q001 16q24.3 Microdeletion Syndrome 25
2385 VSC050 Vascular Malformation, Primary Intraosseous 25
2386 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 25
2387 c BRT028 Brittle Cornea Syndrome 1 25
2388 P PLM064 Pulmonary Sequestration 25
2389 PSD030 Pseudodiastrophic Dysplasia 25
2390 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 25
2391 c ART112 Arthrogryposis, Distal, Type 10 25
2392 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 25
2393 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 25
2394 CHR248 Chromosome 4p Duplication 25
2395 c LSS025 Lissencephaly 5 25
2396 c LKD016 Leukodystrophy, Hypomyelinating, 9 25
2397 c LKD030 Leukodystrophy, Hypomyelinating, 17 25
2398 c CTR169 Cataract 29 25
2399 PLM059 Pulmonary Atresia with Ventricular Septal Defect 25
2400 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 25
2401 c JBR011 Joubert Syndrome 7 25
2402 NVR001 Nievergelt Syndrome 24
2403 LLS001 Lelis Syndrome 24
2404 c CHR464 Chronic Intestinal Failure 24
2405 P ART034 Aortopulmonary Window 24
2406 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 24
2407 OCL030 Oculoauriculofrontonasal Syndrome 24
2408 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 24
2409 c LKD023 Leukodystrophy, Hypomyelinating, 12 24
2410 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 24
2411 SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 24
2412 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
2413 c CNG514 Congenital Radioulnar Synostosis 24
2414 SYM024 Symphalangism, Distal 24
2415 c CRN111 Cranioectodermal Dysplasia 4 24
2416 TTR021 Tetrasomy 21 24
2417 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 24
2418 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 24
2419 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 24
2420 ART037 Arthrogryposis and Ectodermal Dysplasia 24
2421 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
2422 c LKD021 Leukodystrophy, Hypomyelinating, 11 24
2423 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
2424 CRL001 Cerulean Cataract 24
2425 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
2426 ACR107 Acrofacial Dysostosis, Palagonia Type 24
2427 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 24
2428 NSD003 Nasodigitoacoustic Syndrome 24
2429 SKN024 Skin Fragility-Woolly Hair Syndrome 24
2430 c SPN102 Spinocerebellar Ataxia 30 24
2431 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 24
2432 PRP090 Peripheral Dysostosis 24
2433 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
2434 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 24
2435 c MCK026 Meckel Syndrome 12 24
2436 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
2437 c RNG013 Ring Chromosome 18 24
2438 c DMN006 Diamond-Blackfan Anemia 3 24
2439 CHR190 Chromosome 12p Duplication 24
2440 CGN001 Cogan-Reese Syndrome 24
2441 GNT043 Genitopalatocardiac Syndrome 24
2442 48X002 48,xxxy Syndrome 24
2443 FMR016 Femur-Fibula-Ulna Syndrome 23
2444 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
2445 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 23
2446 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 23
2447 c SPN420 Spinocerebellar Ataxia 46 23
2448 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 23
2449 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23
2450 c CLC056 Cole-Carpenter Syndrome 1 23
2451 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 23
2452 TBS009 Teebi-Shaltout Syndrome 23
2453 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 23
2454 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 23
2455 c RNG010 Ring Chromosome 15 23
2456 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 23
2457 c HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 23
2458 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 23
2459 AXL004 Axial Mesodermal Dysplasia Spectrum 23
2460 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 23
2461 c MLG148 Malignant Hyperthermia 2 23
2462 8P2002 8p23.1 Duplication Syndrome 23
2463 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 23
2464 CMB084 Combined Oxidative Phosphorylation Deficiency 34 23
2465 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 23
2466 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 23
2467 BRN123 Branchial Arch Syndrome, X-Linked 23
2468 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 23
2469 CHR212 Chromosome 18p Duplication 23
2470 PNS015 Penoscrotal Transposition 23
2471 c DMN005 Diamond-Blackfan Anemia 2 23
2472 c FCL046 Focal Facial Dermal Dysplasia 4 23
2473 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 23
2474 c FBR029 Fibrochondrogenesis 1 23
2475 ATX037 Ataxia-Deafness-Retardation Syndrome 23
2476 c JBR035 Joubert Syndrome 24 23
2477 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 23
2478 c NRP039 Neuropathy, Hereditary Sensory, Type Id 23
2479 c MLG149 Malignant Hyperthermia 3 23
2480 DRM041 Dermoid Cysts, Familial Frontonasal 23
2481 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 23
2482 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 22
2483 c TRC071 Treacher Collins Syndrome 3 22
2484 P PHC014 Phocomelia 22
2485 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 22
2486 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 22
2487 DFF027 Diffuse Lymphatic Malformation 22
2488 YNH001 Yuan-Harel-Lupski Syndrome 22
2489 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
2490 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 22
2491 c PRR024 Perrault Syndrome 3 22
2492 CRT060 Cor Triatriatum Sinister 22
2493 DPL009 Duplication of the Pituitary Gland 22
2494 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 22
2495 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 22
2496 INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 22
2497 FBR087 Fibromatosis, Gingival, with Distinctive Facies 22
2498 c ACR108 Acrocephalopolysyndactyly Type Iv 22
2499 CHR241 Chromosome 2q24 Microdeletion Syndrome 22
2500 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
2501 c ADM009 Adams-Oliver Syndrome 4 22
2502 c ADM012 Adams-Oliver Syndrome 6 22
2503 NNN007 Non-Involuting Congenital Hemangioma 22
2504 HMR018 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 22
2505 CRN272 Craniometadiaphyseal Dysplasia 22
2506 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
2507 EKN001 Eiken Syndrome 22
2508 THV001 Thauvin-Robinet-Faivre Syndrome 22
2509 PRR029 Pierre Robin Syndrome and Oligodactyly 22
2510 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
2511 LMB014 Limb-Body Wall Complex 22
2512 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 22
2513 c CLB022 Coloboma, Ocular, Autosomal Recessive 22
2514 c ADM008 Adams-Oliver Syndrome 3 22
2515 LRY046 Laryngeal Web, Familial 22
2516 ACK001 Ackerman Syndrome 22
2517 c LKD029 Leukodystrophy, Hypomyelinating, 16 22
2518 c BNM016 Bone Mineral Density Quantitative Trait Locus 1 22
2519 c MLG150 Malignant Hyperthermia 4 22
2520 VNT030 Ventriculomegaly with Cystic Kidney Disease 22
2521 LYM123 Lymphedema-Hypoparathyroidism Syndrome 22
2522 FCC002 Faciocardiorenal Syndrome 22
2523 CHR252 Chromosome 5p Duplication 21
2524 c CRD167 Cardiofaciocutaneous Syndrome 4 21
2525 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 21
2526 HYP212 Hypomandibular Faciocranial Dysostosis 21
2527 LRY028 Laryngocele 21
2528 ACR019 Acropectoral Syndrome 21
2529 BLP009 Blepharonasofacial Malformation Syndrome 21
2530 c CRD164 Cardiofaciocutaneous Syndrome 3 21
2531 ODN020 Odontoma-Dysphagia Syndrome 21
2532 OST168 Osteosclerotic Metaphyseal Dysplasia 21
2533 CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 21
2534 DPL007 Duplication of Urethra 21
2535 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 21
2536 ACH039 Achalasia-Microcephaly Syndrome 21
2537 CLB011 Coloboma of Macula with Type B Brachydactyly 21
2538 c PLY136 Polydactyly, Preaxial I 21
2539 c SHW007 Shwachman-Diamond Syndrome 2 21
2540 c ART128 Arthrogryposis, Distal, Type 6 21
2541 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 21
2542 c PGT011 Paget Disease of Bone 6 21
2543 LCH015 Lichtenstein-Knorr Syndrome 21
2544 c JBR036 Joubert Syndrome 25 21
2545 INT095 Internal Carotid Agenesis 21
2546 MCR119 Microtia, Hearing Impairment, and Cleft Palate 21
2547 INT231 Intellectual Disability - Athetosis - Microphthalmia 21
2548 P CHR200 Chromosome 16 Trisomy 21
2549 YHV001 You-Hoover-Fong Syndrome 21
2550 SCH025 Schisis Association 21
2551 P CNG070 Congenital Dislocation of the Patella 21
2552 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 21
2553 HYD053 Hydrocephalus with Associated Malformations 21
2554 SPN349 Spondylometaphyseal Dysplasia, Type A4 21
2555 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 21
2556 FCC003 Faciocardiomelic Dysplasia, Lethal 21
2557 OPT077 Optic Disc Pit 21
2558 c MLG151 Malignant Hyperthermia 5 21
2559 SMM003 Summitt Syndrome 20
2560 MLT148 Multiple Pterygium Syndrome, X-Linked 20
2561 NNG002 Non-Gestational Ovarian Choriocarcinoma 20
2562 KNS006 Kniest-Like Dysplasia, Lethal 20
2563 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 20
2564 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 20
2565 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
2566 MCR303 Macrosomia with Microphthalmia, Lethal 20
2567 MSM019 Mesomelic Dysplasia, Savarirayan Type 20
2568 ERM001 Ermine Phenotype 20
2569 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 20
2570 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 20
2571 RTH002 Rutherfurd Syndrome 20
2572 TBT001 Tabatznik Syndrome 20
2573 BRN125 Branchiogenic-Deafness Syndrome 20
2574 c CHR227 Chromosome 20 Trisomy 20
2575 MCD004 Macdermot-Winter Syndrome 20
2576 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 20
2577 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 20
2578 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
2579 SGM010 Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome 20
2580 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 20
2581 PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 20
2582 TBL027 Tubulinopathy-Associated Dysgyria 20
2583 RDR002 Rodrigues Blindness 20
2584 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 20
2585 SCH031 Scholte Syndrome 20
2586 CHR457 Chromosome 17p13.1 Deletion Syndrome 20
2587 SND006 Sonoda Syndrome 20
2588 c RNG021 Ring Chromosome 5 20
2589 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 20
2590 c VND004 Van Der Woude Syndrome 2 20
2591 PLD002 Pilodental Dysplasia with Refractive Errors 20
2592 ATK002 Atkin-Flaitz Syndrome 20
2593 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 20
2594 THR032 Thoracolaryngopelvic Dysplasia 20
2595 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 20
2596 c RNG019 Ring Chromosome 3 20
2597 CRN076 Crane-Heise Syndrome 19
2598 EDN001 Edinburgh Malformation Syndrome 19
2599 1Q4001 1q44 Microdeletion Syndrome 19
2600 c SPN107 Spinocerebellar Ataxia 9 19
2601 THR033 Thoracomelic Dysplasia 19
2602 CHR416 Chromosome 17q Deletion 19
2603 CLB018 Coloboma of Eyelid 19
2604 48X005 48,xyyy 19
2605 HMF007 Hemifacial Hyperplasia with Strabismus 19
2606 OTN001 Otoonychoperoneal Syndrome 19
2607 MZB001 Mazabraud Syndrome 19
2608 c BRC035 Brachydactyly Type A5 19
2609 c SNG012 Singleton-Merten Syndrome 2 19
2610 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 19
2611 BRC100 Brachydactyly, Combined B and E Types 19
2612 MTC100 Metacarpal 4-5 Fusion 19
2613 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 19
2614 c PRN047 Porencephaly 2 19
2615 c FBR030 Fibrochondrogenesis 2 19
2616 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 19
2617 ACR039 Acromegaloid Hypertrichosis Syndrome 19
2618 ULN005 Ulna and Fibula, Hypoplasia of 19
2619 ZCH002 Zechi-Ceide Syndrome 19
2620 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 19
2621 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 19
2622 HYP489 Hypotrichosis-Deafness Syndrome 19
2623 PLY133 Polysyndactyly with Cardiac Malformation 19
2624 MSC017 Mosaic Trisomy 22 19
2625 SPN353 Spondylometaphyseal Dysplasia, X-Linked 19
2626 c URF002 Urofacial Syndrome 2 19
2627 c MLT060 Multiple Synostoses Syndrome 2 19
2628 c RNG025 Ring Chromosome 9 19
2629 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19
2630 c RNG006 Ring Chromosome 11 19
2631 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 19
2632 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 19
2633 SPS192 Spastic Paraparesis and Deafness 19
2634 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 19
2635 c BRN086 Branchiootorenal Syndrome 2 19
2636 RDL030 Radial-Renal Syndrome 19
2637 CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 19
2638 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 18
2639 c DNR004 Duane Retraction Syndrome 2 18
2640 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 18
2641 DBL007 Double Outlet Left Ventricle 18
2642 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 18
2643 SCL051 Scalp Defects and Postaxial Polydactyly 18
2644 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 18
2645 c PGT006 Paget Disease of Bone 4 18
2646 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 18
2647 BMR004 Beemer Lethal Malformation Syndrome 18
2648 c PNC105 Pancreatic Agenesis 2