Fetal Diseases Category (4509 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 54
4 MCR078 Microphthalmia Microtia Fetal Akinesia 18
5 FTL028 Fetal Retinoid Syndrome 15
6 VLP002 Valproate Embryopathy 47
7 MTH070 Methimazole Antenatal Exposure 20
8 ACT091 Acitretin Embryopathy 6
9 c LYM145 Lymphatic Malformation 5 51
10 c FTL006 Fetal Alcohol Spectrum Disorder 50
11 P LYM127 Lymphatic Malformations 50
12 c LYM150 Lymphatic Malformation 7 40
13 c LYM144 Lymphatic Malformation 1 40
14 P PRG092 Pregnancy Loss, Recurrent 1 33
15 FTL007 Fetal Hydantoin Syndrome 31
16 c LYM148 Lymphatic Malformation 4 23
17 c LYM147 Lymphatic Malformation 3 21
18 c LYM146 Lymphatic Malformation 2 15
19 IST007 Isotretinoin Embryopathy-Like Syndrome 25
20 IST006 Isotretinoin Syndrome 23
21 NCH001 Nuchal Bleb, Familial 31
22 P PRM252 Preimplantation Embryonic Lethality 1 17
23 P OTS002 Otospondylomegaepiphyseal Dysplasia 44
24 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 43
25 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 43
26 EMB006 Embryonal Testis Carcinoma 36
27 c RHB023 Rhabdomyosarcoma, Embryonal, 1 28
28 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 18
29 CHL043 Childhood Embryonal Testis Carcinoma 9
30 P FTL001 Fetal Alcohol Syndrome 64
31 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 22
32 P CNT003 Central Nervous System Embryonal Carcinoma 10
33 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 8
34 PRP094 Propylthiouracil Embryofetopathy 5
35 PRS030 Persistent Fetal Circulation Syndrome 46
36 P PNT019 Pontocerebellar Hypoplasia 43
37 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
38 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
39 OVR050 Ovarian Embryonal Carcinoma 41
40 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
41 c PNT010 Pontocerebellar Hypoplasia Type 1 39
42 FTL004 Fetal Erythroblastosis 39
43 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
44 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
45 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
46 c PNT043 Pontocerebellar Hypoplasia, Type 4 32
47 c PNT044 Pontocerebellar Hypoplasia, Type 2a 32
48 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
49 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
50 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
51 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
52 c PNT039 Pontocerebellar Hypoplasia, Type 7 26
53 c PNT051 Pontocerebellar Hypoplasia, Type 1d 25
54 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
55 c PNT047 Pontocerebellar Hypoplasia, Type 2b 25
56 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
57 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
58 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
59 c PNT052 Pontocerebellar Hypoplasia, Type 12 14
60 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
61 CHL026 Childhood Ovarian Embryonal Carcinoma 9
62 c ADL007 Adult Central Nervous System Embryonal Carcinoma 9
63 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
64 AMN013 Aminopterin/methotrexate Embryofetopathy 18
65 ACT206 Acitretin/etretinate Embryopathy 17
66 FTL066 Fetal Akinesia Syndrome, X-Linked 14
67 P TXP001 Toxoplasmosis 65
68 c CNG021 Congenital Toxoplasmosis 57
69 CCN007 Cocoon Syndrome 43
70 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
71 FTL029 Fetal Thalidomide Syndrome 32
72 GRM001 Germ Cell and Embryonal Cancer 30
73 INT041 Intratubular Embryonal Carcinoma 28
74 c RHB021 Rhabdomyosarcoma, Embryonal, 2 16
75 c PRM251 Preimplantation Embryonic Lethality 2 13
76 PDT006 Pediatric Cns Embryonal Cell Carcinoma 8
77 P CTR002 Cataract 58
78 P PRS062 Persistent Hyperplastic Primary Vitreous 40
79 c CTR115 Cataract 16, Multiple Types 38
80 c CTR170 Cataract 30, Multiple Types 37
81 c CTR141 Cataract 21, Multiple Types 33
82 c CTR118 Cataract 14, Multiple Types 33
83 c CTR122 Cataract 5, Multiple Types 33
84 c CTR103 Cataract 4, Multiple Types 32
85 c CTR145 Cataract 44 32
86 c CTR158 Cataract 37 31
87 c CTR125 Cataract 7 30
88 c CTR096 Cataract 6, Multiple Types 29
89 c CTR102 Cataract 2, Multiple Types 29
90 FTL062 Fetal Iodine Deficiency Disorder 29
91 c CTR175 Cataract 24 28
92 c CTR121 Cataract 25 28
93 c CTR174 Cataract 40 27
94 c CTR129 Cataract 31, Multiple Types 26
95 c CTR113 Cataract 11, Multiple Types 26
96 FTL016 Fetal Edema 25
97 c CTR169 Cataract 29 24
98 c CTR166 Cataract 33, Multiple Types 23
99 c CTR181 Cataract 18 23
100 c CTR119 Cataract 32, Multiple Types 23
101 c CTR131 Cataract 17, Multiple Types 23
102 c CTR180 Cataract 22, Multiple Types 22
103 c CTR162 Cataract 47 22
104 c CTR165 Cataract 19, Multiple Types 22
105 c CTR184 Cataract 39, Multiple Types 22
106 c CTR159 Cataract 35 20
107 c CTR183 Cataract 38 20
108 c CTR163 Cataract 46, Juvenile-Onset 20
109 c CTR097 Cataract 34, Multiple Types 20
110 c CTR111 Cataract 36 20
111 c CTR139 Cataract 42 19
112 c CTR110 Cataract 26, Multiple Types 19
113 c CTR157 Cataract 28 18
114 c CTR106 Cataract 20, Multiple Types 18
115 c CTR144 Cataract 43 18
116 c CTR185 Cataract 30 18
117 c CTR160 Cataract 45 18
118 ORB002 Orbit Embryonal Rhabdomyosarcoma 18
119 CCN010 Cocaine Embryofetopathy 18
120 c CTR178 Cataract 27 17
121 MYC060 Mycophenolate Mofetil Embryopathy 17
122 PRS010 Prostate Embryonal Rhabdomyosarcoma 16
123 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
124 c CTR128 Cataract 33 14
125 c CTR025 Cataract, Total Congenital 14
126 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 9
127 c CTR008 Cataract Congenital Autosomal Dominant 7
128 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
129 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 6
130 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 6
131 HYD027 Hydrops Fetalis Anemia Immune Disorder Absent Thumb 3
132 HRP013 Herpetic Embryopathy 2
133 VTM006 Vitamin a Embryopathy 2
134 c RBN009 Robinow Syndrome, Autosomal Recessive 47
135 c RBN018 Robinow Syndrome, Autosomal Dominant 1 42
136 EMB002 Embryoma 45
137 ALC001 Alcohol-Related Birth Defect 42
138 PRT001 Partial Fetal Alcohol Syndrome 23
139 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 17
140 FTL058 Fetal Trimethadione Syndrome 17
141 FTL026 Fetal Parvovirus Syndrome 16
142 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 13
143 P MCK013 Meckel Syndrome, Type 1 63
144 P NML001 Nemaline Myopathy 48
145 c NML002 Nemaline Myopathy 1 48
146 FTL021 Fetal Macrosomia 47
147 c NML003 Nemaline Myopathy 2 46
148 c LTH008 Lethal Congenital Contracture Syndrome 2 45
149 c ATS082 Autosomal Dominant Robinow Syndrome 45
150 c MCK012 Meckel Syndrome, Type 6 42
151 c NML004 Nemaline Myopathy 3 41
152 c MCK032 Meckel Syndrome, Type 3 41
153 c NML005 Nemaline Myopathy 4 38
154 c MCK031 Meckel Syndrome, Type 2 37
155 c MCK033 Meckel Syndrome, Type 4 36
156 c MCK030 Meckel Syndrome, Type 7 36
157 c MCK014 Meckel Syndrome, Type 5 35
158 c NML006 Nemaline Myopathy 5 35
159 c SVR040 Severe Congenital Nemaline Myopathy 35
160 c MCK034 Meckel Syndrome, Type 8 31
161 c INT274 Intermediate Congenital Nemaline Myopathy 31
162 FTL005 Fetal Adenoma 30
163 c CTR132 Cataract 3, Multiple Types 30
164 P LTH003 Lethal Congenital Contracture Syndrome 29
165 c LTH027 Lethal Congenital Contracture Syndrome 5 26
166 PRX085 Preaxial Hallucal Polydactyly 25
167 c ADL068 Adult-Onset Nemaline Myopathy 25
168 c MCK028 Meckel Syndrome 13 25
169 c MCK035 Meckel Syndrome, Type 10 23
170 c LTH031 Lethal Congenital Contracture Syndrome 6 23
171 c NML007 Nemaline Myopathy 6 23
172 c LTH047 Lethal Congenital Contracture Syndrome 3 23
173 c LTH039 Lethal Congenital Contracture Syndrome 11 23
174 c NML024 Nemaline Myopathy 11, Autosomal Recessive 22
175 c MCK026 Meckel Syndrome 12 22
176 c LTH029 Lethal Congenital Contracture Syndrome 9 22
177 c NML010 Nemaline Myopathy 7 21
178 c NML025 Nemaline Myopathy 8 21
179 c NML021 Nemaline Myopathy 9 20
180 c MCK036 Meckel Syndrome, Type 9 20
181 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 19
182 c MCK020 Meckel Syndrome, Type 11 19
183 c LTH026 Lethal Congenital Contracture Syndrome 4 18
184 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 17
185 PRV001 Parovarian Cyst 16
186 FTL044 Fetal Cytomegalovirus Syndrome 15
187 CHL030 Childhood Botryoid Rhabdomyosarcoma 14
188 c SPR105 Sporadic Fetal Brain Disruption Sequence 14
189 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 12
190 c RR2001 Ror2-Related Robinow Syndrome 12
191 FTL048 Fetal Lung Interstitial Tumor 12
192 EMB014 Embryonary Disorganization Syndrome 12
193 THY113 Thymic Aplasia with Fetal Death 9
194 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 8
195 FTL020 Fetal Left Ventricular Aneurysm 7
196 MXD015 Mixed Type Rhabdomyosarcoma 5
197 FTL049 Fetal Carbamazepine Syndrome 5
198 LSS032 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome 5
199 FTL063 Fetal Nicotine Spectrum Disorder 3
200 SMT021 Somatomedin, Embryonic 3
201 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 2
202 FTL027 Fetal Phenothiazine Syndrome 2
203 P ATX030 Ataxia-Telangiectasia 83
204 P FNC027 Fanconi Anemia, Complementation Group a 81
205 PFF001 Pfeiffer Syndrome 79
206 P NNN008 Noonan Syndrome 1 79
207 KPS004 Kaposi Sarcoma 77
208 P NRF023 Neurofibromatosis, Type Ii 76
209 MRF001 Marfan Syndrome 76
210 PHN003 Phenylketonuria 75
211 P FML011 Familial Adenomatous Polyposis 72
212 P TRN020 Turner Syndrome 72
213 VNH007 Von Hippel-Lindau Syndrome 72
214 FBR012 Fabry Disease 72
215 P ALG028 Alagille Syndrome 1 71
216 P DMN001 Diamond-Blackfan Anemia 71
217 P FRG001 Fragile X Syndrome 70
218 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 69
219 SMT004 Smith-Lemli-Opitz Syndrome 69
220 P PSD087 Pseudoxanthoma Elasticum 68
221 c ART101 Aortic Valve Disease 2 68
222 P DYS007 Dyskeratosis Congenita 67
223 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
224 P KBK002 Kabuki Syndrome 1 67
225 c FML346 Familial Adenomatous Polyposis 1 67
226 c MCP050 Mucopolysaccharidosis, Type Ii 67
227 INC021 Incontinentia Pigmenti 67
228 P HYD006 Hydrocephalus 66
229 P CCK001 Cockayne Syndrome 66
230 c NNN010 Noonan Syndrome 3 66
231 MCC012 Mccune-Albright Syndrome 65
232 P ANG001 Angelman Syndrome 65
233 CST001 Costello Syndrome 65
234 c MCP049 Mucopolysaccharidosis, Type Vii 65
235 NRR002 Norrie Disease 65
236 P BRD002 Bardet-Biedl Syndrome 65
237 P CRD224 Cardiofaciocutaneous Syndrome 1 65
238 WLL001 Williams-Beuren Syndrome 64
239 P SHW006 Shwachman-Diamond Syndrome 1 64
240 P OST001 Osteopetrosis 63
241 P CTS001 Cutis Laxa 62
242 P EHL001 Ehlers-Danlos Syndrome 62
243 KLP010 Klippel-Trenaunay-Weber Syndrome 61
244 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
245 P JVN014 Juvenile Polyposis Syndrome 61
246 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 61
247 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 61
248 P VNT002 Ventricular Septal Defect 61
249 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
250 c BRD014 Bardet-Biedl Syndrome 2 61
251 NWB001 Newborn Respiratory Distress Syndrome 61
252 P WLF004 Wolfram Syndrome 60
253 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
254 CFF002 Coffin-Lowry Syndrome 60
255 NTH001 Netherton Syndrome 60
256 P OCL013 Oculodentodigital Dysplasia 59
257 P DST002 Distal Arthrogryposis 59
258 c PRX045 Peroxisome Biogenesis Disorder 1b 59
259 ANG020 Angiosarcoma 59
260 c CRP023 Carpenter Syndrome 1 59
261 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 59
262 STR039 Sturge-Weber Syndrome 58
263 c BRD010 Bardet-Biedl Syndrome 1 58
264 ANN002 Anencephaly 58
265 P PLY006 Polydactyly 58
266 P MLT007 Multiple Epiphyseal Dysplasia 58
267 P SYP003 Syphilis 58
268 P ICH004 Ichthyosis 57
269 LCR014 Lacrimoauriculodentodigital Syndrome 57
270 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 56
271 P PRM011 Primary Ciliary Dyskinesia 56
272 ART002 Arts Syndrome 56
273 P HLL001 Hallermann-Streiff Syndrome 56
274 P CRN108 Cranioectodermal Dysplasia 1 56
275 CLF004 Cleft Lip/palate 56
276 HRL003 Hurler Syndrome 55
277 c NNN012 Noonan Syndrome 5 55
278 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 55
279 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
280 OST024 Osteoporosis-Pseudoglioma Syndrome 55
281 P PTS002 Ptosis 55
282 c WLF013 Wolfram Syndrome 1 54
283 MLT135 Multiple Sulfatase Deficiency 54
284 ABL002 Ablepharon-Macrostomia Syndrome 54
285 CHR005 Chorioamnionitis 53
286 c DMN023 Diamond-Blackfan Anemia 1 53
287 OLG003 Oligohydramnios 53
288 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
289 P TRT010 Teratoma 53
290 c WRD033 Waardenburg Syndrome, Type 2e 53
291 RGH009 Right Atrial Isomerism 53
292 P OMP004 Omphalocele 52
293 NNT012 Neonatal Jaundice 52
294 RNP003 Renpenning Syndrome 1 52
295 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
296 c CLR131 Ciliary Dyskinesia, Primary, 1 52
297 CCH002 Coach Syndrome 52
298 c MCR256 Microphthalmia, Syndromic 9 52
299 HMF009 Hemifacial Hyperplasia 52
300 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
301 c BRD012 Bardet-Biedl Syndrome 11 52
302 P VSC013 Visceral Heterotaxy 51
303 c NNN009 Noonan Syndrome 2 51
304 PLC007 Placental Abruption 51
305 VTR016 Vater/vacterl Association 51
306 c OST163 Osteopetrosis, Autosomal Recessive 3 51
307 c PRX059 Peroxisome Biogenesis Disorder 1a 51
308 P SYR001 Syringomyelia 51
309 c CCK008 Cockayne Syndrome a 51
310 HNN001 Hennekam Syndrome 51
311 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 51
312 CTY001 Cat Eye Syndrome 51
313 P VNB005 Van Buchem Disease 51
314 c CCK007 Cockayne Syndrome B 51
315 c ART144 Arthrogryposis, Distal, Type 1a 50
316 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
317 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
318 P SMP003 Simpson-Golabi-Behmel Syndrome 50
319 c ACH041 Achondrogenesis, Type Ii 50
320 P ART018 Aortic Valve Insufficiency 50
321 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
322 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
323 P ART084 Arteriovenous Fistula 50
324 P NLX004 Neu-Laxova Syndrome 1 50
325 P EPT020 Epithelioid Hemangioendothelioma 50
326 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 49
327 NVS001 Neovascular Glaucoma 49
328 P LSS002 Lissencephaly 49
329 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 49
330 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
331 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 49
332 c BRD013 Bardet-Biedl Syndrome 12 49
333 P ERL057 Early Infantile Epileptic Encephalopathy 49
334 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
335 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
336 P HRN001 Horner's Syndrome 48
337 P CRN074 Coronary Artery Aneurysm 48
338 JHN001 Johanson-Blizzard Syndrome 48
339 ACR058 Acrofacial Dysostosis 1, Nager Type 48
340 HYP347 Hypotonia-Cystinuria Syndrome 48
341 P NNT009 Neonatal Diabetes Mellitus 48
342 c OPT051 Opitz Gbbb Syndrome, Type I 48
343 P ANT088 Anterior Segment Dysgenesis 48
344 P ENC008 Encephalocele 48
345 c USH037 Usher Syndrome, Type Iia 47
346 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 47
347 c WRD032 Waardenburg Syndrome, Type 2a 47
348 c ACH042 Achondrogenesis, Type Ib 47
349 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 47
350 c WRD020 Waardenburg Syndrome, Type 4a 47
351 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
352 PLC001 Placenta Accreta 47
353 MCR165 Microphthalmia with Limb Anomalies 47
354 P FNG006 Feingold Syndrome 1 47
355 c USH035 Usher Syndrome Type 2 47
356 c MLG081 Malignant Teratoma 47
357 c BRD044 Bardet-Biedl Syndrome 17 47
358 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 47
359 P DNR001 Duane Retraction Syndrome 46
360 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 46
361 KBG001 Kbg Syndrome 46
362 c TRC092 Trichorhinophalangeal Syndrome, Type I 46
363 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 46
364 c BRD016 Bardet-Biedl Syndrome 4 46
365 c USH021 Usher Syndrome, Type Iid 46
366 CHN065 Choanal Atresia, Posterior 46
367 PLY012 Polyhydramnios 46
368 P RDL002 Radioulnar Synostosis 46
369 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 46
370 c OST129 Osteopetrosis, Autosomal Recessive 2 46
371 P MCL001 Mucolipidosis 46
372 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
373 P KLF001 Kleefstra Syndrome 46
374 RST011 Restrictive Dermopathy, Lethal 45
375 c SCK009 Seckel Syndrome 1 45
376 c WRD019 Waardenburg Syndrome, Type 4b 45
377 c ACH033 Achondrogenesis, Type Ia 45
378 PLL008 Pallister-Killian Syndrome 45
379 MRG013 Mirage Syndrome 45
380 SHR098 Short-Rib Thoracic Dysplasia 12 45
381 c WRD031 Waardenburg Syndrome, Type 3 45
382 MLB001 Mulibrey Nanism 45
383 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 45
384 c BRD032 Bardet-Biedl Syndrome 14 45
385 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
386 c BRD011 Bardet-Biedl Syndrome 10 45
387 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 45
388 MCR173 Microform Holoprosencephaly 45
389 P HRD086 Hereditary Hypophosphatemic Rickets 45
390 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 45
391 MWT001 Mowat-Wilson Syndrome 44
392 c TRN032 Transient Neonatal Diabetes Mellitus 44
393 c NNN013 Noonan Syndrome 6 44
394 c PRM022 Primary Syphilis 44
395 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 44
396 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
397 c OPT050 Opitz Gbbb Syndrome, Type Ii 44
398 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 44
399 c ANT077 Anterior Segment Dysgenesis 1 43
400 c BRD020 Bardet-Biedl Syndrome 8 43
401 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 43
402 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 43
403 c NNN011 Noonan Syndrome 4 43
404 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 43
405 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
406 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 43
407 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
408 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
409 c FNC058 Fanconi Anemia, Complementation Group R 43
410 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 43
411 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 42
412 P OCY003 Oocyte Maturation Defect 1 42
413 ANM001 Anemia of Prematurity 42
414 c BRT050 Bartter Syndrome, Type 2, Antenatal 42
415 c BRD033 Bardet-Biedl Syndrome 13 42
416 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
417 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 42
418 c FNC023 Fanconi Anemia, Complementation Group N 42
419 c BRD048 Bardet-Biedl Syndrome 18 42
420 c RTS003 Ritscher-Schinzel Syndrome 1 42
421 SPN331 Spondyloocular Syndrome 42
422 HYL004 Hyaline Fibromatosis Syndrome 42
423 c FNC057 Fanconi Anemia, Complementation Group U 42
424 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
425 c FNC056 Fanconi Anemia, Complementation Group V 41
426 DBT090 Diabetes and Deafness, Maternally Inherited 41
427 c MCR263 Microphthalmia, Syndromic 1 41
428 NNC002 Nance-Horan Syndrome 41
429 c BRD015 Bardet-Biedl Syndrome 3 41
430 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 41
431 P ACH011 Achondrogenesis 41
432 c CTR130 Cataract 9, Multiple Types 41
433 c FNC028 Fanconi Anemia, Complementation Group L 41
434 MYH012 Myhre Syndrome 41
435 c MCL016 Mucolipidosis Iii Gamma 41
436 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41
437 c MCR261 Microphthalmia, Syndromic 2 41
438 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 41
439 GNT031 Genitopatellar Syndrome 41
440 c CNG033 Congenital Syphilis 41
441 c FNC029 Fanconi Anemia, Complementation Group I 41
442 CHR382 Chromosome 18q Deletion Syndrome 41
443 P CRC039 Coarctation of Aorta 40
444 P MCR364 Macrodactyly 40
445 c HYD064 Hydrocephalus, Congenital, 1 40
446 c GLC083 Glaucoma 3, Primary Infantile, B 40
447 c USH040 Usher Syndrome, Type Id 40
448 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 40
449 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
450 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
451 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
452 ISL121 Isolated Split Hand-Split Foot Malformation 40
453 SCR035 Sacral Agenesis with Vertebral Anomalies 40
454 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
455 c OTP007 Otopalatodigital Syndrome, Type Ii 40
456 BRB006 Barber-Say Syndrome 40
457 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 40
458 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
459 c BRD018 Bardet-Biedl Syndrome 6 40
460 c USH020 Usher Syndrome, Type Iic 40
461 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
462 c CTR098 Cataract 1, Multiple Types 40
463 c SCK015 Seckel Syndrome 2 40
464 c NNN024 Noonan Syndrome 9 40
465 c NNN021 Noonan Syndrome 8 40
466 HRL004 Hurler-Scheie Syndrome 39
467 c FNC046 Fanconi Anemia, Complementation Group P 39
468 c SCN006 Secondary Syphilis 39
469 c FNC025 Fanconi Anemia, Complementation Group J 39
470 c VNM003 Van Maldergem Syndrome 1 39
471 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 39
472 CHR386 Chromosome 6pter-P24 Deletion Syndrome 39
473 c DNR003 Duane Retraction Syndrome 1 39
474 c MLG145 Malignant Epithelioid Hemangioendothelioma 39
475 c BRD035 Bardet-Biedl Syndrome 15 39
476 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
477 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 39
478 PLC009 Placenta Praevia 39
479 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
480 c BRD017 Bardet-Biedl Syndrome 5 39
481 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 39
482 CHR667 Chromosome 3pter-P25 Deletion Syndrome 39
483 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
484 P PRT042 Parietal Foramina 38
485 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
486 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 38
487 c OST126 Osteopetrosis, Autosomal Recessive 1 38
488 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 38
489 c MNS014 Monosomy 22 38
490 P MNN007 Meningocele 38
491 DPH019 Diaphanospondylodysostosis 38
492 P LSS024 Lissencephaly with Cerebellar Hypoplasia 38
493 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 38
494 c USH039 Usher Syndrome, Type Ic 38
495 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
496 CHR010 Chorioangioma 38
497 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
498 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
499 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
500 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 37
501 SML028 Semilobar Holoprosencephaly 37
502 P CMM008 Communicating Hydrocephalus 37
503 c PRM032 Primary Congenital Glaucoma 37
504 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
505 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 37
506 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
507 OHD005 Ohdo Syndrome, Sbbys Variant 37
508 c RBN020 Robinow Syndrome, Autosomal Dominant 3 37
509 c ATS076 Autosomal Recessive Stickler Syndrome 37
510 c WRD024 Waardenburg Syndrome, Type 4c 37
511 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
512 c ANT071 Anterior Segment Dysgenesis 4 37
513 SPN012 Spindle Cell Hemangioma 37
514 c CNG513 Congenital Ptosis 37
515 c EPP012 Epiphyseal Dysplasia, Multiple, 2 36
516 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
517 CHR387 Chromosome Xp21 Deletion Syndrome 36
518 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 36
519 P JVN008 Juvenile Glaucoma 36
520 MND025 Mandibulofacial Dysostosis with Alopecia 36
521 ALB014 Alobar Holoprosencephaly 36
522 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
523 P GLP001 Geleophysic Dysplasia 36
524 c USH041 Usher Syndrome, Type if 36
525 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 36
526 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
527 c NNN025 Noonan Syndrome 10 36
528 c USH042 Usher Syndrome, Type Ig 36
529 GPS001 Gapo Syndrome 36
530 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 36
531 c BRD045 Bardet-Biedl Syndrome 19 36
532 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 36
533 CHR501 Chromosome 17q12 Deletion Syndrome 36
534 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
535 LBR025 Lobar Holoprosencephaly 36
536 c FNC048 Fanconi Anemia, Complementation Group O 36
537 P DXT004 Dextro-Looped Transposition of the Great Arteries 36
538 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
539 P ANT061 Antenatal Bartter Syndrome 35
540 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
541 c FNC062 Fanconi Anemia, Complementation Group S 35
542 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35
543 c MCP051 Mucopolysaccharidosis, Type Ix 35
544 EPP011 Epiphyseal Chondrodysplasia, Miura Type 35
545 P CLS054 Classic Ehlers-Danlos Syndrome 35
546 PST063 Postsynaptic Congenital Myasthenic Syndromes 35
547 DGT009 Digitotalar Dysmorphism 35
548 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
549 c WLF009 Wolfram Syndrome 2 35
550 MCR103 Microtia 35
551 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
552 PLM151 Pulmonary Arteriovenous Fistulas 35
553 TRM011 Terminal Osseous Dysplasia 35
554 OGD001 Ogden Syndrome 35
555 c EPP015 Epiphyseal Dysplasia, Multiple, 3 35
556 P OMD003 Omodysplasia 35
557 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 34
558 c NNN020 Noonan Syndrome 7 34
559 P MXD016 Mixed Gonadal Dysgenesis 34
560 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
561 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 34
562 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 34
563 c OVR075 Ovarian Dysgenesis 1 34
564 c ICH023 Ichthyosis, Acquired 34
565 GLS018 Glass Syndrome 34
566 INT276 Interatrial Communication 34
567 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
568 c BRD047 Bardet-Biedl Syndrome 16 34
569 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 34
570 CHR377 Chromosome 10q26 Deletion Syndrome 34
571 CNS013 Constricting Bands, Congenital 34
572 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
573 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
574 c ORT011 Orthostatic Hypotension 1 33
575 c FNC052 Fanconi Anemia, Complementation Group T 33
576 NNT004 Neonatal Respiratory Failure 33
577 c HTR021 Heterotaxy, Visceral, 5, Autosomal 33
578 c GLP003 Geleophysic Dysplasia 1 33
579 c WRD010 Waardenburg Syndrome Type 4 33
580 c KLF004 Kleefstra Syndrome 1 33
581 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 33
582 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 33
583 c DMN021 Diamond-Blackfan Anemia 6 33
584 c CNG379 Congenital Disorder of Glycosylation, Type It 33
585 OLV004 Oliver-Mcfarlane Syndrome 33
586 c FNC047 Fanconi Anemia, Complementation Group Q 33
587 c PRX055 Peroxisome Biogenesis Disorder 11a 33
588 c MTR051 Maternal Uniparental Disomy of Chromosome 1 32
589 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
590 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 32
591 BRC004 Brachydactyly-Syndactyly Syndrome 32
592 OSC001 Oeis Complex 32
593 ANG062 Angioosteohypertrophic Syndrome 32
594 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 32
595 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
596 c BRT052 Bartter Syndrome, Type 1, Antenatal 32
597 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 32
598 c SYN084 Synpolydactyly 1 32
599 DST008 Diastematomyelia 32
600 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
601 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
602 ISL062 Isolated Plagiocephaly 32
603 c GLP004 Geleophysic Dysplasia 2 32
604 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 32
605 c ORT012 Orthostatic Hypotension 2 32
606 c WLL036 Weill-Marchesani Syndrome 1 32
607 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 32
608 P RTS001 Ritscher-Schinzel Syndrome 31
609 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 31
610 NNT005 Neonatal Candidiasis 31
611 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
612 P ACR106 Acrocephalopolysyndactyly Type Iii 31
613 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31
614 P BRC003 Brachyolmia 31
615 P CRN249 Cornea Plana 31
616 c CTR095 Cataract 8, Multiple Types 31
617 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 31
618 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 31
619 SPT016 Septopreoptic Holoprosencephaly 31
620 THR017 Thoracoabdominal Syndrome 31
621 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 31
622 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 31
623 MCR099 Microlissencephaly 31
624 WRF003 Warfarin Syndrome 31
625 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
626 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
627 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
628 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 31
629 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
630 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
631 c SCK011 Seckel Syndrome 5 30
632 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
633 c CRN109 Cranioectodermal Dysplasia 2 30
634 c BRD019 Bardet-Biedl Syndrome 7 30
635 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 30
636 ISL109 Isolated Cleft Lip 30
637 c CNG188 Congenital Disorder of Glycosylation, Type if 30
638 c ACQ027 Acquired Cutis Laxa 30
639 ISL096 Isolated Klippel-Feil Syndrome 30
640 c WLL037 Weill-Marchesani Syndrome 2 30
641 ALZ030 Alazami Syndrome 30
642 CRN264 Craniosynostosis with Fibular Aplasia 30
643 ALG027 Al-Gazali-Bakalinova Syndrome 30
644 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 30
645 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
646 MCR183 Microcephaly-Capillary Malformation Syndrome 30
647 c SCK010 Seckel Syndrome 4 30
648 NRN022 Neurenteric Cyst 30
649 c PRX060 Peroxisome Biogenesis Disorder 5a 30
650 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
651 TKN001 Takenouchi-Kosaki Syndrome 30
652 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 30
653 PRP093 Pierpont Syndrome 30
654 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
655 BRN133 Bronchomalacia 30
656 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
657 P VNM004 Van Maldergem Syndrome 29
658 c PRT059 Parietal Foramina 1 29
659 c LSS010 Lissencephaly 4 29
660 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
661 c STS007 Sotos Syndrome 2 29
662 c PRX063 Peroxisome Biogenesis Disorder 2a 29
663 UNV002 Univentricular Heart 29
664 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29
665 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
666 c USH031 Usher Syndrome, Type Ij 29
667 c RBN008 Rubinstein-Taybi Syndrome 2 29
668 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
669 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
670 VND005 Van Den Ende-Gupta Syndrome 29
671 PLM013 Pulmonary Immaturity 29
672 CBB002 Cobb Syndrome 29
673 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 29
674 P ACR093 Acrofrontofacionasal Dysostosis 29
675 CRL006 Caroli Disease, Isolated 29
676 P TRS029 Trisomy 1q 29
677 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
678 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
679 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
680 WTT002 Witteveen-Kolk Syndrome 29
681 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
682 MCR096 Macrocephaly/autism Syndrome 29
683 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 29
684 c PRX056 Peroxisome Biogenesis Disorder 11b 29
685 c USH030 Usher Syndrome, Type Ik 29
686 c DYS039 Dyskeratosis Congenita Autosomal Dominant 28
687 PLY110 Polymicrogyria, Bilateral Temporooccipital 28
688 RHM015 Rhombencephalosynapsis 28
689 c ERL012 Early-Onset Glaucoma 28
690 P PRD037 Periodontal Ehlers-Danlos Syndrome 28
691 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28
692 LRY022 Laryngoonychocutaneous Syndrome 28
693 TTR014 Tetrasomy 18p 28
694 UVL009 Uvula, Bifid 28
695 P SCL047 Sclerocornea 28
696 HYP679 Hypoglossia-Hypodactylia 28
697 CLF028 Cleft Soft Palate 28
698 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 28
699 STL007 Steel Syndrome 28
700 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 28
701 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
702 c ART104 Arthrogryposis, Distal, Type 5d 28
703 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
704 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
705 OCC011 Occipital Encephalocele 28
706 MLR023 Melorheostosis, Isolated 28
707 c ANT084 Anterior Segment Dysgenesis 3 28
708 c PRX048 Peroxisome Biogenesis Disorder 10a 28
709 c PRX054 Peroxisome Biogenesis Disorder 12a 28
710 TTT001 Tatton-Brown-Rahman Syndrome 28
711 P TRC031 Trichorhinophalangeal Syndrome 28
712 c PRX053 Peroxisome Biogenesis Disorder 14b 28
713 CHR399 Chromosome 4q21 Deletion Syndrome 28
714 TRC007 Tricuspid Valve Prolapse 27
715 HYP682 Hypertelorism, Teebi Type 27
716 SLF015 Self-Improving Collodion Baby 27
717 ATY022 Atypical Coarctation of Aorta 27
718 c FRN033 Frontonasal Dysplasia 2 27
719 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 27
720 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 27
721 CRB147 Cerebellofaciodental Syndrome 27
722 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
723 INF021 Infant Gynecomastia 27
724 P KNN002 Kenny-Caffey Syndrome 27
725 c CLR091 Ciliary Dyskinesia, Primary, 14 27
726 MNS013 Monosomy 13q34 27
727 c FML299 Familial Adenomatous Polyposis 3 27
728 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
729 ISL011 Isolated Aniridia 27
730 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 27
731 c PRX051 Peroxisome Biogenesis Disorder 6a 27
732 TTR023 Tetraamelia-Multiple Malformations Syndrome 27
733 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
734 c CRP022 Carpenter Syndrome 2 27
735 WLL012 Williams-Beuren Region Duplication Syndrome 27
736 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
737 ASS004 Aase-Smith Syndrome I 26
738 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
739 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 26
740 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 26
741 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
742 P OVR076 Ovarian Dysgenesis 2 26
743 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
744 RGH006 Right Aortic Arch 26
745 c USH044 Usher Syndrome, Type Iiib 26
746 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 26
747 DGT002 Digital Clubbing, Isolated Congenital 26
748 GBR007 Gabriele-De Vries Syndrome 26
749 P ART034 Aortopulmonary Window 26
750 c DMN017 Diamond-Blackfan Anemia 10 26
751 c BRD021 Bardet-Biedl Syndrome 9 26
752 c TRS012 Trisomy 22 26
753 XLN133 X-Linked Intellectual Disability, Shashi Type 26
754 c OST137 Osteopetrosis, Autosomal Recessive 4 26
755 ISL089 Isolated Scaphocephaly 26
756 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 26
757 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
758 c OST120 Osteopetrosis, Autosomal Recessive 5 26
759 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 26
760 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
761 PNL023 Penile Agenesis 26
762 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
763 c PRT060 Parietal Foramina 2 26
764 c BRD050 Bardet-Biedl Syndrome 21 26
765 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
766 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
767 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
768 c KBK003 Kabuki Syndrome 2 26
769 P PRM227 Primary Orthostatic Hypotension 26
770 c CRN110 Cranioectodermal Dysplasia 3 26
771 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
772 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
773 c BSL030 Basal Encephalocele 25
774 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 25
775 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 25
776 c PRX050 Peroxisome Biogenesis Disorder 9b 25
777 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
778 TTR027 Tetrasomy 15q26 25
779 c LTC001 Late Congenital Syphilis 25
780 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 25
781 PRT131 Partial Trisomy Distal 4q 25
782 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
783 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 25
784 c ADL057 Adult Teratoma 25
785 c ACR103 Acrofrontofacionasal Dysostosis 1 25
786 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 25
787 TTR019 Tetrasomy 5p 25
788 c PRX046 Peroxisome Biogenesis Disorder 7a 25
789 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
790 c MCR212 Microphthalmia, Syndromic 12 25
791 c PRX091 Peroxisome Biogenesis Disorder 8a 25
792 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25
793 XQ1001 Xq12-Q13.3 Duplication Syndrome 25
794 c ART122 Arthrogryposis, Distal, Type 8 25
795 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 25
796 CYN002 Cyanosis, Transient Neonatal 25
797 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
798 c DMN022 Diamond-Blackfan Anemia 9 25
799 c CLR090 Ciliary Dyskinesia, Primary, 22 25
800 c PRX057 Peroxisome Biogenesis Disorder 4a 25
801 CLF049 Cleft Lip and Alveolus 25
802 UTR054 Uterine Hypoplasia 25
803 ISL061 Isolated Brachycephaly 25
804 P PLM064 Pulmonary Sequestration 25
805 c PRX065 Peroxisome Biogenesis Disorder 3a 25
806 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
807 c FRN032 Frontonasal Dysplasia 3 25
808 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 25
809 LMB069 Lamb-Shaffer Syndrome 25
810 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 25
811 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 25
812 ISL087 Isolated Oxycephaly 25
813 c ANT085 Anterior Segment Dysgenesis 5 25
814 c PRX043 Peroxisome Biogenesis Disorder 6b 25
815 c ANT083 Anterior Segment Dysgenesis 7 25
816 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 25
817 c PSD047 Pseudo-Turner Syndrome 25
818 RPD005 Rapidly Involuting Congenital Hemangioma 24
819 CHR379 Chromosome 15q26-Qter Deletion Syndrome 24
820 c FNG009 Feingold Syndrome 2 24
821 c FML339 Familial Adenomatous Polyposis 4 24
822 c FRN037 Frontal Encephalocele 24
823 CHR366 Chromosome 5p13 Duplication Syndrome 24
824 c EHL065 Ehlers-Danlos Syndrome, Type V 24
825 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24
826 c NML022 Nemaline Myopathy 10 24
827 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 24
828 SKR001 Skraban-Deardorff Syndrome 24
829 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 24
830 c DMN040 Diamond-Blackfan Anemia 16 24
831 DPR014 Diprosopus 24
832 P NNT006 Neonatal Myasthenia Gravis 24
833 c CLR066 Ciliary Dyskinesia, Primary, 2 24
834 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 24
835 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
836 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 24
837 c FML347 Familial Adenomatous Polyposis 2 24
838 PHK008 Phakomatosis Cesioflammea 24
839 c WLL040 Weill-Marchesani Syndrome 4 24
840 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
841 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
842 PRT101 Poretti-Boltshauser Syndrome 24
843 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
844 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 24
845 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 24
846 CRS011 Criss-Cross Heart 24
847 P SPN237 Spina Bifida Aperta 24
848 c VNM002 Van Maldergem Syndrome 2 24
849 c CRN111 Cranioectodermal Dysplasia 4 24
850 MCR310 Microgastria-Limb Reduction Defects Association 24
851 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
852 c PRX052 Peroxisome Biogenesis Disorder 13a 24
853 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 24
854 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 24
855 CRN266 Craniofacial Dyssynostosis with Short Stature 24
856 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
857 P ACR020 Acropectorovertebral Dysplasia 24
858 c CLR114 Ciliary Dyskinesia, Primary, 30 24
859 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
860 c WLL038 Weill-Marchesani Syndrome 3 24
861 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
862 c HTR009 Heterotaxy, Visceral, 2, Autosomal 24
863 c CNG514 Congenital Radioulnar Synostosis 24
864 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 24
865 MCR302 Macrostomia, Isolated 24
866 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 24
867 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 24
868 c SCK029 Seckel Syndrome 7 24
869 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 24
870 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
871 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 24
872 ADD006 Adducted Thumbs Syndrome 24
873 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 24
874 FCL047 Facial Clefting, Oblique, 1 24
875 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
876 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 24
877 c MCR228 Microphthalmia, Syndromic 13 24
878 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 24
879 c DMN019 Diamond-Blackfan Anemia 4 23
880 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
881 FNT003 Fountain Syndrome 23
882 DRL001 Dural Sinus Malformation 23
883 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
884 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 23
885 c OST106 Osteopetrosis, Autosomal Recessive 8 23
886 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 23
887 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
888 PTL010 Patella Aplasia-Hypoplasia 23
889 c WRD029 Waardenburg Syndrome, Type 2b 23
890 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 23
891 P PTR018 Paternal Uniparental Disomy of Chromosome 6 23
892 c DMN024 Diamond-Blackfan Anemia 7 23
893 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
894 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 23
895 P ACR072 Acrorenal Syndrome 23
896 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 23
897 c CTR116 Cataract 15, Multiple Types 23
898 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 23
899 c CLR094 Ciliary Dyskinesia, Primary, 28 23
900 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 23
901 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
902 LVC002 Levocardia 23
903 c DMN018 Diamond-Blackfan Anemia 5 23
904 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 23
905 c PRX058 Peroxisome Biogenesis Disorder 4b 23
906 c PRX047 Peroxisome Biogenesis Disorder 5b 23
907 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 23
908 DYS134 Dysspondyloenchondromatosis 23
909 c PRX062 Peroxisome Biogenesis Disorder 8b 23
910 c BRD051 Bardet-Biedl Syndrome 20 23
911 PYR025 Pyruvate Dehydrogenase E2 Deficiency 23
912 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
913 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 23
914 MSC089 Mosaic Monosomy X 23
915 c WRD022 Waardenburg Syndrome, Type 2d 23
916 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 23
917 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 23
918 c SHW007 Shwachman-Diamond Syndrome 2 23
919 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 23
920 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
921 c HTR010 Heterotaxy, Visceral, 4, Autosomal 22
922 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 22
923 c ART131 Arthrogryposis, Distal, Type 4 22
924 DSN002 Desanto-Shinawi Syndrome 22
925 c CLR102 Ciliary Dyskinesia, Primary, 17 22
926 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 22
927 BRN129 Branchial Cleft Anomalies 22
928 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 22
929 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 22
930 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 22
931 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 22
932 ULN023 Ulnar Hypoplasia 22
933 c SCK037 Seckel Syndrome 9 22
934 XLN142 X-Linked Intellectual Disability, Stevenson Type 22
935 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
936 c APR009 Aprosencephaly Syndrome 22
937 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 22
938 c CLR105 Ciliary Dyskinesia, Primary, 20 22
939 c LSS035 Lissencephaly 8 22
940 c CLR106 Ciliary Dyskinesia, Primary, 26 22
941 c LSS009 Lissencephaly 3 22
942 DST089 Distal Trisomy 3p 22
943 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
944 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 22
945 c FNC061 Fanconi Anemia, Complementation Group W 22
946 c CLR068 Ciliary Dyskinesia, Primary, 5 22
947 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
948 P MNS011 Monosomy 9q22.3 22
949 c SCK038 Seckel Syndrome 10 22
950 c VNT028 Ventricular Septal Defect 1 22
951 c CLR125 Ciliary Dyskinesia, Primary, 33 22
952 c DMN029 Diamond-Blackfan Anemia 11 22
953 ACR101 Acrocraniofacial Dysostosis 22
954 c CTR124 Cataract 10, Multiple Types 22
955 c MCR217 Microphthalmia, Syndromic 11 22
956 c HRN024 Horner Syndrome, Congenital 22
957 c CLR095 Ciliary Dyskinesia, Primary, 19 22
958 c CLR126 Ciliary Dyskinesia, Primary, 35 22
959 c NLX003 Neu-Laxova Syndrome 2 22
960 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 22
961 CLF033 Cleft Mitral Valve 22
962 c DMN006 Diamond-Blackfan Anemia 3 22
963 c DMN005 Diamond-Blackfan Anemia 2 22
964 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
965 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 22
966 c CLR104 Ciliary Dyskinesia, Primary, 15 22
967 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
968 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
969 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 22
970 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
971 c HTR018 Heterotaxy, Visceral, 7, Autosomal 22
972 MSC081 Mosaic Trisomy 15 22
973 TRG019 Trigonocephaly with Short Stature and Developmental Delay 22
974 c CLR054 Ciliary Dyskinesia, Primary, 12 22
975 P ERL043 Early-Onset Nuclear Cataract 22
976 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 22
977 c LTH030 Lethal Congenital Contracture Syndrome 8 22
978 ERY043 Euryblepharon 22
979 RFM002 Roifman-Chitayat Syndrome 22
980 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
981 CHR393 Chromosome 19p13.13 Deletion Syndrome 22
982 c CLR042 Ciliary Dyskinesia, Primary, 6 21
983 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
984 c MNS008 Monosomy 21 21
985 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 21
986 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 21
987 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
988 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 21
989 c SCN048 Secondary Syringomyelia 21
990 CHN019 Chand Syndrome 21
991 c PRX066 Peroxisome Biogenesis Disorder 3b 21
992 c CRD167 Cardiofaciocutaneous Syndrome 4 21
993 c ERL002 Early Congenital Syphilis 21
994 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
995 CNG009 Congenital Aortic Valve Stenosis 21
996 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
997 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
998 MSL005 Mseleni Joint Disease 21
999 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
1000 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 21
1001 c CRD164 Cardiofaciocutaneous Syndrome 3 21
1002 CHR502 Chromosome 17q12 Duplication Syndrome 21
1003 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
1004 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 21
1005 c DMN020 Diamond-Blackfan Anemia 8 21
1006 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 21
1007 c CLR117 Ciliary Dyskinesia, Primary, 32 21
1008 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 21
1009 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 21
1010 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
1011 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
1012 c LTH032 Lethal Congenital Contracture Syndrome 7 21
1013 OCL070 Oculopalatocerebral Syndrome 21
1014 CHR369 Chromosome Xq28 Duplication Syndrome 21
1015 c CTR105 Cataract 12, Multiple Types 21
1016 c CLR101 Ciliary Dyskinesia, Primary, 25 21
1017 c SCK033 Seckel Syndrome 8 21
1018 c OVR107 Ovarian Dysgenesis 4 21
1019 c CLR136 Ciliary Dyskinesia, Primary, 9 21
1020 VCT008 Vacterl with Hydrocephalus 21
1021 CRT069 Cortical Malformations, Occipital 21
1022 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 21
1023 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 21
1024 RDL022 Radial Hemimelia 21
1025 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 21
1026 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
1027 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 21
1028 CRN200 Craniosynostosis and Dental Anomalies 21
1029 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 21
1030 c CLR092 Ciliary Dyskinesia, Primary, 18 21
1031 c SYN088 Synpolydactyly 2 21
1032 CHR483 Chromosome 3q13.31 Deletion Syndrome 21
1033 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
1034 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
1035 c CLR116 Ciliary Dyskinesia, Primary, 29 21
1036 c CLR098 Ciliary Dyskinesia, Primary, 27 21
1037 c JVN034 Juvenile Polyposis of Infancy 21
1038 HRR005 Harrod Syndrome 21
1039 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 21
1040 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
1041 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1042 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
1043 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 21
1044 c RTS002 Ritscher-Schinzel Syndrome 2 21
1045 PLV015 Pelvis-Shoulder Dysplasia 20
1046 c HYD040 Hydrolethalus Syndrome 2 20
1047 CRV063 Cervical Spina Bifida Aperta 20
1048 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 20
1049 DST081 Distal Trisomy 11q 20
1050 ISL084 Isolated Trigonocephaly 20
1051 c CLR099 Ciliary Dyskinesia, Primary, 16 20
1052 c EPP009 Epiphyseal Dysplasia, Multiple, 6 20
1053 c CRD163 Cardiofaciocutaneous Syndrome 2 20
1054 c CTR182 Cataract 23, Multiple Types 20
1055 c STC012 Stickler Syndrome, Type Iv 20
1056 c CLR135 Ciliary Dyskinesia, Primary, 7 20
1057 MYP038 Myopathy, Congenital, Compton-North 20
1058 c BRC053 Brachyolmia Type 2 20
1059 c EHL090 Ehlers-Danlos Syndrome Type 7b 20
1060 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 20
1061 GRM003 German Syndrome 20
1062 ORB019 Orbital Margin, Hypoplasia of 20
1063 c CLR088 Ciliary Dyskinesia, Primary, 21 20
1064 c OST171 Osteopetrosis, Autosomal Dominant 3 20
1065 c DMN028 Diamond-Blackfan Anemia 12 20
1066 2Q3005 2q31.1 Microdeletion Syndrome 20
1067 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 20
1068 c CLR059 Ciliary Dyskinesia, Primary, 13 20
1069 ACK001 Ackerman Syndrome 20
1070 P RCR026 Recurrent Hydatidiform Mole 20
1071 c PTS010 Ptosis, Hereditary Congenital 2 20
1072 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 20
1073 XQ2003 Xq25 Duplication Syndrome 20
1074 P PRX064 Peroxisome Biogenesis Disorder 2b 20
1075 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 20
1076 TRC110 Tracheobronchial Stenosis, Congenital 20
1077 NTH002 Nathalie Syndrome 20
1078 ATR055 Atrial Septal Aneurysm 20
1079 c VNT024 Ventricular Septal Defect 3 20
1080 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
1081 c CLR097 Ciliary Dyskinesia, Primary, 23 20
1082 DST083 Distal Trisomy 9q 20
1083 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 20
1084 c GLC054 Glaucoma 3, Primary Congenital, D 20
1085 c CTR176 Cataract, Age-Related Nuclear 20
1086 c CTR136 Cataract 41 20
1087 6QT002 6q Terminal Deletion Syndrome 20
1088 c CLR056 Ciliary Dyskinesia, Primary, 10 20
1089 CRV062 Cervical Spina Bifida Cystica 20
1090 LMB056 Lumbosacral Spina Bifida Cystica 20
1091 c PRX089 Peroxisome Biogenesis Disorder 10b 20
1092 MNS012 Monostotic Fibrous Dysplasia 20
1093 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
1094 OCL057 Oculotrichodysplasia 20
1095 DST059 Distal Trisomy 17q 19
1096 DST037 Distal Monosomy 9p 19
1097 c STC011 Stickler Syndrome, Type V 19
1098 HMR042 Humero-Ulnar Synostosis 19
1099 c CLR107 Ciliary Dyskinesia, Primary, 24 19
1100 c PRX068 Peroxisome Biogenesis Disorder 7b 19
1101 c HTR023 Heterotaxy, Visceral, 6, Autosomal 19
1102 c GLP007 Geleophysic Dysplasia 3 19
1103 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 19
1104 VGN031 Vaginal Atresia 19
1105 EHL064 Ehlers-Danlos Syndrome, Arthrochalasis Type 19
1106 c HYD042 Hydrocephalus, Autosomal Dominant 19
1107 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 19
1108 c FCL056 Facial Paresis, Hereditary Congenital, 3 19
1109 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
1110 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
1111 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 19
1112 c ART060 Arthrogryposis, Distal, Type 1b 19
1113 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 19
1114 DST045 Distal Trisomy 6p 19
1115 c DMN039 Diamond-Blackfan Anemia 17 19
1116 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
1117 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
1118 c OVR102 Ovarian Dysgenesis 3 19
1119 c CLR053 Ciliary Dyskinesia, Primary, 11 19
1120 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 19
1121 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 19
1122 CHR612 Chromosome 15q14 Deletion Syndrome 19
1123 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
1124 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19
1125 c EPP026 Epiphyseal Dysplasia, Multiple, 7 19
1126 THY105 Thyrocerebroretinal Syndrome 19
1127 CHR362 Chromosome 17q21.31 Duplication Syndrome 19
1128 CRV064 Cervicothoracic Spina Bifida Aperta 19
1129 UPP007 Upper Thoracic Spina Bifida Cystica 19
1130 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
1131 CRV061 Cervicothoracic Spina Bifida Cystica 19
1132 UPP008 Upper Thoracic Spina Bifida Aperta 19
1133 c TTL009 Total Spina Bifida Aperta 19
1134 THR084 Thoracolumbosacral Spina Bifida Cystica 19
1135 THR085 Thoracolumbosacral Spina Bifida Aperta 19
1136 TTL008 Total Spina Bifida Cystica 19
1137 LMB057 Lumbosacral Spina Bifida Aperta 19
1138 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 19
1139 SPR065 Supernumerary Nostril 19
1140 MSM018 Mesomelic Limb Shortening and Bowing 19
1141 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 19
1142 MCR307 Microspherophakia-Metaphyseal Dysplasia 19
1143 c HTR020 Heterotaxy, Visceral, 8, Autosomal 19
1144 FCL064 Facial Dysmorphism with Multiple Malformations 19
1145 c CLR134 Ciliary Dyskinesia, Primary, 3 19
1146 DST071 Distal Monosomy 19p13.3 19
1147 c USH043 Usher Syndrome, Type Ih 19
1148 c ACQ050 Acquired Schizencephaly 19
1149 TTR018 Tetragametic Chimerism 19
1150 c ISC013 Isochromosomy Yq 19
1151 PRP101 Peripheral Pulmonary Stenosis 18
1152 c ACR108 Acrocephalopolysyndactyly Type Iv 18
1153 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 18
1154 DST044 Distal Trisomy 14q 18
1155 PHK010 Phakomatosis Spilorosea 18
1156 CRN224 Craniofaciofrontodigital Syndrome 18
1157 CNG284 Congenital Pseudoarthrosis of the Tibia 18
1158 CLF047 Cleft-Limb-Heart Malformation Syndrome 18
1159 c SCK032 Seckel Syndrome 6 18
1160 PLY088 Polyvalvular Heart Disease Syndrome 18
1161 c STS009 Sotos Syndrome 3 18
1162 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 18
1163 c DNR004 Duane Retraction Syndrome 2 18
1164 c DMN030 Diamond-Blackfan Anemia 13 18
1165 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 18
1166 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 18
1167 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 18
1168 c ANT087 Anterior Segment Dysgenesis 6 18
1169 c ANT067 Anterior Segment Dysgenesis 8 18
1170 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 18
1171 c FCL030 Facial Paresis, Hereditary Congenital, 1 18
1172 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 18
1173 3P2001 3p25.3 Microdeletion Syndrome 18
1174 TRC114 Trichodental Dysplasia 18
1175 c CLR124 Ciliary Dyskinesia, Primary, 34 18
1176 c MTR063 Maternal Uniparental Disomy of Chromosome 2 18
1177 c WRD026 Waardenburg Syndrome, Type 2c 18
1178 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
1179 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 18
1180 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 18
1181 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
1182 P MTR062 Maternal Uniparental Disomy of Chromosome 4 18
1183 c OMP009 Omphalocele, Autosomal 18
1184 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 18
1185 CMP039 Camptodactyly 1 18
1186 P RNG031 Ring Chromosome Y Syndrome 18
1187 c HYD041 Hydatidiform Mole, Recurrent, 2 18
1188 c CRN280 Cornea Plana 2, Autosomal Recessive 18
1189 c CLR123 Ciliary Dyskinesia, Primary, 37 18
1190 c VNB004 Van Buchem Disease, Type 2 18
1191 c OVR115 Ovarian Dysgenesis 5 18
1192 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 18
1193 c TRN062 Transient Neonatal Myasthenia Gravis 18
1194 DST036 Distal Trisomy 15q 18
1195 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
1196 6Q1001 6q16 Deletion Syndrome 18
1197 c USH045 Usher Syndrome, Type Iv 18
1198 ILL003 Illum Syndrome 18
1199 FMR013 Femoral Agenesis/hypoplasia 18
1200 c FCL050 Facial Paresis, Hereditary Congenital, 2 18
1201 ECT085 Ectopia Cordis 18
1202 CHR614 Chromosome 16p13.2 Deletion Syndrome 18
1203 16P003 16p13.11 Microdeletion Syndrome 18
1204 MMM002 Mammary-Digital-Nail Syndrome 18
1205 7P2001 7p22.1 Microduplication Syndrome 17
1206 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
1207 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
1208 c KLF005 Kleefstra Syndrome 2 17
1209 CNG347 Congenital Tricuspid Stenosis 17
1210 8P1001 8p11.2 Deletion Syndrome 17
1211 EPB002 Epiblepharon 17
1212 MSC086 Mesocardia 17
1213 c SX2003 Six2-Related Frontonasal Dysplasia 17
1214 NSL020 Nasal Glial Heterotopia 17
1215 11Q001 11q22.2q22.3 Microdeletion Syndrome 17
1216 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 17
1217 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 17
1218 CHR567 Chromosome 5q12 Deletion Syndrome 17
1219 c VNT026 Ventricular Septal Defect 2 17
1220 MYL044 Myelocystocele 17
1221 FRY007 Fryns Macrocephaly 17
1222 c CLR138 Ciliary Dyskinesia, Primary, 38 17
1223 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 17
1224 P HRD043 Hereditary Congenital Facial Paresis 17
1225 DYS135 Dysphagia Lusoria 17
1226 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
1227 SMM003 Summitt Syndrome 17
1228 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 17
1229 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 17
1230 c GLC089 Glaucoma 3, Primary Congenital, E 17
1231 6P2001 6p22 Microdeletion Syndrome 17
1232 c MTR067 Maternal Uniparental Disomy of Chromosome 16 17
1233 c MTR061 Maternal Uniparental Disomy of Chromosome 6 17
1234 c OVR119 Ovarian Dysgenesis 7 17
1235 c CRN306 Corneal Dystrophy, Posterior Polymorphous, 4 17
1236 14Q001 14q12 Microdeletion Syndrome 17
1237 c SPN121 Spondylocostal Dysostosis 1 17
1238 SBR012 Subaortic Stenosis, Membranous 17
1239 CNG489 Congenital Herpes Simplex Virus Infection 17
1240 c PST093 Posterior Hypospadias 17
1241 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
1242 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
1243 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 17
1244 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 17
1245 c CLR067 Ciliary Dyskinesia, Primary, 4 17
1246 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
1247 DST055 Distal 22q11.2 Microduplication Syndrome 17
1248 BLT023 Bilateral Acute Depigmentation of the Iris 17
1249 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 17
1250 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 17
1251 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 17
1252 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 17
1253 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 16
1254 JNT004 Joint Laxity, Short Stature, and Myopia 16
1255 CNG491 Congenital Portosystemic Shunt 16
1256 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1257 MSC090 Mosaic Trisomy 3 16
1258 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 16
1259 c CLR069 Ciliary Dyskinesia, Primary, 8 16
1260 c OVR120 Ovarian Dysgenesis 8 16
1261 DBL010 Double-Orifice Mitral Valve 16
1262 KMM002 Kommerell Diverticulum 16
1263 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 16
1264 c PRT113 Parietal Foramina 3 16
1265 ESS005 Essential Iris Atrophy 16
1266 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 16
1267 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 16
1268 CLF034 Cleft Hard Palate 16
1269 NSL017 Nasolacrimal Duct Cyst 16
1270 c CLR139 Ciliary Dyskinesia, Primary, 39 16
1271 XP2002 Xp22.13p22.2 Duplication Syndrome 16
1272 c ART054 Arthrogryposis, Distal, Type 2e 16
1273 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
1274 TTR016 Tetra-Amelia Syndrome 16
1275 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 16
1276 CNG506 Congenital Amyoplasia 16
1277 THM021 Thumb Deformity and Alopecia 16
1278 CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 16
1279 c CRN279 Cornea Plana 1, Autosomal Dominant 16
1280 DDL001 Didelphys Uterus 16
1281 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 16
1282 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
1283 RGH010 Right Ventricular Hypoplasia, Isolated 16
1284 c PTS018 Ptosis, Hereditary Congenital 1 16
1285 CNG519 Congenital Gerbode Defect 16
1286 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
1287 20Q001 20q13.33 Microdeletion Syndrome 16
1288 c STC007 Stickler Syndrome, Type 3 16
1289 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 16
1290 DRM038 Dermotrichic Syndrome 16
1291 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
1292 CNG330 Congenital Megacalycosis 16
1293 c PTR011 Paternal Uniparental Disomy of Chromosome 1 16
1294 DST035 Distal Trisomy 18q 16
1295 c LTB003 Ltbp4-Related Cutis Laxa 16
1296 CRN197 Coronary Arterial Fistulas 16
1297 PHK006 Phakomatosis Pigmentokeratotica 16
1298 1P2001 1p21.3 Microdeletion Syndrome 16
1299 CLR127 Ciliary Dyskinesia, Primary, 36, X-Linked 16
1300 c DMN045 Diamond-Blackfan Anemia-Like 16
1301 P ZYG003 Zygodactyly 1 16
1302 c CLR140 Ciliary Dyskinesia, Primary, 40 16
1303 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 16
1304 TYS007 Tyshchenko Syndrome 16
1305 RDL031 Radial Aplasia, X-Linked 16
1306 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 16
1307 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 16
1308 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
1309 XLN145 X-Linked Intellectual Disability, Pai Type 16
1310 AML053 Amelia, Autosomal Recessive 16
1311 c INT005 Intermediate Malignant Teratoma 16
1312 RTF001 Retiform Hemangioendothelioma 16
1313 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 15
1314 NND003 Non-Distal Trisomy 10q 15
1315 MLC004 Mulchandani-Bhoj-Conlin Syndrome 15
1316 c OVR118 Ovarian Dysgenesis 6 15
1317 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 15
1318 SBM006 Submucosal Cleft Palate 15
1319 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 15
1320 c CNT108 Central Polydactyly 15
1321 DLT013 Deletion 5q35 15
1322 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 15
1323 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 15
1324 CRN192 Craniorhiny 15
1325 c PTN012 Patent Ductus Arteriosus 3 15
1326 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 15
1327 HYP727 Hypoglossia with Situs Inversus 15
1328 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 15
1329 P LRY049 Laryngotracheoesophageal Cleft Type 4 15
1330 CNS012 Cono-Spondylar Dysplasia 15
1331 VCL007 Vocal Cord Paralysis and Ptosis 15
1332 10Q002 10q22.3q23.3 Microduplication Syndrome 15
1333 c OCY002 Oocyte Maturation Defect 2 15
1334 ISL120 Isolated Cerebellar Agenesis 15
1335 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 15
1336 WHB001 Wahab Syndrome 15
1337 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 15
1338 c MTR057 Maternal Uniparental Disomy of Chromosome X 15
1339 DST079 Distal Trisomy 5q 15
1340 DST082 Distal Trisomy 10q 15
1341 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
1342 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 15
1343 DST038 Distal Monosomy 7q36 15
1344 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 15
1345 49X004 49,xyyyy Syndrome 15
1346 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
1347 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 15
1348 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 15
1349 PRS111 Persistent Fifth Aortic Arch 15
1350 XSM001 X Small Rings 15
1351 CYS047 Cystic Fibrosis, Modifier of, 1 15
1352 PLM116 Pulmonary Artery Hypoplasia 15
1353 HYP497 Hyperphalangy 15
1354 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 15
1355 UNL006 Unilateral Focal Polymicrogyria 15
1356 c PTN013 Patent Ductus Arteriosus 2 15
1357 HLL014 Hallux Varus and Preaxial Polysyndactyly 15
1358 c TYP003 Type I Ehlers-Danlos Syndrome 15
1359 P XKP001 Xk Aprosencephaly 15
1360 20Q003 20q11.2 Microdeletion Syndrome 15
1361 PTN009 Patent Urachus 15
1362 MSC078 Mosaic Trisomy 17 15
1363 CRV066 Cervical Aortic Arch 15
1364 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 15
1365 NND005 Non-Distal Trisomy 13q 15
1366 ESP040 Esophageal Duplication Cyst 15
1367 KLL013 Kallmann Syndrome-Heart Disease Syndrome 15
1368 UNL005 Unilateral Polymicrogyria 15
1369 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 15
1370 ANR045 Aneurysm of Interventricular Septum 14
1371 TRN046 Transverse Vaginal Septum 14
1372 CNG243 Congenital Subglottic Stenosis 14
1373 5Q3001 5q35 Microduplication Syndrome 14
1374 TRN017 Transient Neonatal Neutropenia 14
1375 c MTR060 Maternal Uniparental Disomy of Chromosome 9 14
1376 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 14
1377 LRS009 Larsen-Like Syndrome, Lethal Type 14
1378 CMP077 Composite Hemangioendothelioma 14
1379 ATR053 Atresia of Urethra 14
1380 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 14
1381 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 14
1382 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 14
1383 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
1384 ANR041 Aniridia-Intellectual Disability Syndrome 14
1385 ISC019 Ischiovertebral Syndrome 14
1386 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 14
1387 MCR186 Microtriplication 11q24.1 14
1388 c OCY005 Oocyte Maturation Defect 4 14
1389 c EFM001 Efemp2-Related Cutis Laxa 14
1390 ACC011 Accessory Mitral Valve Tissue 14
1391 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1392 ACR078 Acral Self-Healing Collodion Baby 14
1393 c DMN047 Diamond-Blackfan Anemia 18 14
1394 ART091 Aorto-Ventricular Tunnel 14
1395 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
1396 TRP023 Triphalangeal Thumbs and Dislocation of Patella 14
1397 P CNG326 Congenital Primary Megaureter 14
1398 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
1399 c SYN040 Synpolydactyly 3 14
1400 P OTP002 Otopalatodigital Spectrum Disorders 14
1401 c CNG343 Congenital Coronary Artery Aneurysm 14
1402 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1403 P JVN036 Juvenile Sialidosis Type 2 14
1404 NND004 Non-Distal Monosomy 10q 14
1405 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
1406 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 14
1407 ISL118 Isolated Tracheoesophageal Fistula 14
1408 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 14
1409 FRS011 First Branchial Cleft Anomaly 14
1410 CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 14
1411 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 14
1412 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1413 MSC080 Mosaic Trisomy 12 14
1414 CNG235 Congenital Microgastria 14
1415 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 14
1416 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 14
1417 APR008 Aprosencephaly and Cerebellar Dysgenesis 14
1418 VRR008 Verrucous Hemangioma 14
1419 c GLC052 Glaucoma 3, Primary Congenital, C 14
1420 CMP079 Complete Septate Uterus 13
1421 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 13
1422 RCT033 Rectal Duplication 13
1423 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 13
1424 CLF040 Cleft Lip-Retinopathy Syndrome 13
1425 P BLT016 Bilateral Polymicrogyria 13
1426 c KLF002 Kleefstra Syndrome Due to a Point Mutation 13
1427 DST052 Distal 7q11.23 Microduplication Syndrome 13
1428 ANN015 Anonychia with Flexural Pigmentation 13
1429 c ACQ029 Acquired Porencephaly 13
1430 TRN045 True Unicornuate Uterus 13
1431 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
1432 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
1433 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 13
1434 c MTR064 Maternal Uniparental Disomy of Chromosome 22 13
1435 16P005 16p11.2p12.2 Microduplication Syndrome 13
1436 c OCY004 Oocyte Maturation Defect 3 13
1437 MSC088 Mosaic Trisomy 5 13
1438 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 13
1439 LNG081 Longitudinal Vaginal Septum 13
1440 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 13
1441 ART095 Aortic Valve Atresia 13
1442 LWR017 Lower Limb Malformation-Hypospadias Syndrome 13
1443 MDL016 Midline Cervical Cleft 13
1444 46X015 46,xy Ovotesticular Disorder of Sex Development 13
1445 c PRG096 Pregnancy Loss, Recurrent 2 13
1446 ISL133 Isolated Epispadias 13
1447 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 13
1448 CMP084 Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome 13
1449 c SCL053 Sclerocornea, Autosomal Dominant 13
1450 c PRG093 Pregnancy Loss, Recurrent 3 13
1451 c PTR022 Paternal Uniparental Disomy of Chromosome 7 13
1452 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 13
1453 ANR037 Aneurysm or Dilatation of Ascending Aorta 13
1454 CRN204 Craniofacial Conodysplasia 13
1455 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 13
1456 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 13
1457 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
1458 ACH028 Acheiria 13
1459 CNG252 Congenital Non-Communicating Hydrocephalus 13
1460 c ACR046 Acropectorovertebral Dysplasia F Form 13
1461 CHR498 Chromosome 16p11.2 Duplication Syndrome 13
1462 HND012 Handigodu Joint Disease 13
1463 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 13
1464 CNG335 Congenital Ectropion Uveae 13
1465 EXT062 Extracranial Carotid Artery Aneurysm 12
1466 MND008 Mandibular Arteriovenous Malformation 12
1467 ERL036 Early-Onset Posterior Subcapsular Cataract 12
1468 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 12
1469 ETH013 Euthyroid Graves Orbitopathy 12
1470 ART097 Aorto-Left Ventricular Tunnel 12
1471 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 12
1472 ECT057 Ectasia of the Right Atrial Appendage 12
1473 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 12
1474 PRT087 Parietal Encephalocele 12
1475 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 12
1476 c DMN049 Diamond-Blackfan Anemia 20 12
1477 c OCY006 Oocyte Maturation Defect 5 12
1478 SYM014 Symbrachydactyly of Hands and Feet 12
1479 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 12
1480 PRC041 Pericardial and Diaphragmatic Defect 12
1481 P ANT062 Anterior Urethral Valve 12
1482 c CSK002 Cask-Related Intellectual Disability 12
1483 c TRS033 Trisomy 18-Like Syndrome 12
1484 MTR084 Maternal Hyperthermia-Induced Birth Defects 12
1485 CRN194 Cranial Meningocele 12
1486 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
1487 c PTR019 Paternal Uniparental Disomy of Chromosome 5 12
1488 URC013 Urachal Diverticulum 12
1489 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 12
1490 c ACR115 Acrorenal Syndrome, Autosomal Recessive 12
1491 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 12
1492 5Q3002 5q31.3 Microdeletion Syndrome 12
1493 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 12
1494 LWN002 Low Anorectal Malformation 12
1495 ISL108 Isolated Splenogonadal Fusion 12
1496 13Q001 13q12.3 Microdeletion Syndrome 12
1497 PRM238 Primary Intralymphatic Angioendothelioma 12
1498 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 12
1499 PRP103 Peripapillary Staphyloma 12
1500 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 12
1501 c HYP545 Hypospadias 3, Autosomal 12
1502 c PTR015 Paternal Uniparental Disomy of Chromosome X 12
1503 PSD091 Pseudounicornuate Uterus 12
1504 ISL128 Isolated Microspherophakia 12
1505 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
1506 NND008 Non-Distal Monosomy 7p 11
1507 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 11
1508 CNT077 Central Bilateral Macrogyria 11
1509 c SYN050 Syndactyly Type 6 11
1510 HGH026 High Anorectal Malformation 11
1511 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 11
1512 P SYN073 Syngap1-Related Intellectual Disability 11
1513 ABS016 Absence of the Pulmonary Artery 11
1514 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
1515 JXT004 Juxtaposition of the Atrial Appendages 11
1516 c CNG253 Congenital Communicating Hydrocephalus 11
1517 c PRM168 Primary Syringomyelia 11
1518 LBR027 Laubry-Pezzi Syndrome 11
1519 SHN001 Shone Complex 11
1520 c LRY051 Laryngotracheoesophageal Cleft Type 1 11
1521 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 11
1522 c HLL012 Hallermann-Streiff-Like Syndrome 11
1523 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 11
1524 NSL021 Nasal Encephalocele 11
1525 c CNG455 Congenital Aortopulmonary Window 11
1526 ART098 Aorto-Right Ventricular Tunnel 11
1527 CNG357 Congenital Symblepharon 11
1528 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 11
1529 FRT004 Fourth Branchial Cleft Anomaly 11
1530 MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 11
1531 PLR014 Pleuro-Pericardial Cyst 11
1532 c ATS065 Autosomal Dominant Coarctation of Aorta 11
1533 ART130 Arthrogryposis with Hyperkeratosis 10
1534 c CNG257 Congenital Pulmonary Sequestration 10
1535 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
1536 CRV060 Cervical Dermoid Cyst 10
1537 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 10
1538 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 10
1539 URC012 Urachal Sinus 10
1540 c SPN122 Spondylocostal Dysostosis 2 10
1541 9Q2003 9q21.13 Microdeletion Syndrome 10
1542 9Q3002 9q33.3q34.11 Microdeletion Syndrome 10
1543 GLS016 Glossopalatine Ankylosis 10
1544 CNG244 Congenital Laryngeal Cyst 10
1545 c USH011 Usher Syndrome, Type 2b 10
1546 IDP062 Idiopathic Syringomyelia 10
1547 CNG318 Congenital Genu Recurvatum 10
1548 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 10
1549 c SPN124 Spondylocostal Dysostosis 4 10
1550 LWR014 Lower Limb Hypertrophy 10
1551 c SPN123 Spondylocostal Dysostosis 3 10
1552 MGC005 Megacystis-Megaureter Syndrome 10
1553 c CNG346 Congenital Aortic Valve Insufficiency 10
1554 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1555 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1556 c ZYG007 Zygodactyly Type 3 9
1557 CRN207 Coronary Sinus Stenosis 9
1558 PRS112 Persistent Eustachian Valve 9
1559 c CNG433 Congenital Cornea Plana 9
1560 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 9
1561 ULN014 Ulnar Hemimelia 9
1562 CNG277 Congenital Pseudoarthrosis of the Fibula 9
1563 c DMN048 Diamond-Blackfan Anemia 19 9
1564 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 9
1565 c HVP001 Hivep2-Related Intellectual Disability 9
1566 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1567 c KRN003 Kernicterus Due to Isoimmunization 9
1568 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 9
1569 ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 9
1570 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 9
1571 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1572 CNG279 Congenital Pseudoarthrosis of the Ulna 9
1573 MSC087 Mosaic Trisomy 4 9
1574 c CLC009 Clcn7-Related Osteopetrosis 9
1575 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 9
1576 CNG282 Congenital Knee Dislocation 9
1577 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
1578 c ZYG006 Zygodactyly Type 2 9
1579 c MCR185 Macrodactyly of Toes 9
1580 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 9
1581 DST090 Distal Trisomy 2p 9
1582 3Q2004 3q26 Microduplication Syndrome 9
1583 THR083 Third Branchial Cleft Anomaly 9
1584 DST074 Distal Trisomy 20q 9
1585 c FBL003 Fbln5-Related Cutis Laxa 8
1586 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 8
1587 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 8
1588 CRN208 Coronary Sinus Atresia 8
1589 MXL013 Maxillary Arteriovenous Malformation 8
1590 CMP057 Complete Cryptophthalmia 8
1591 INV017 Inverse Marcus-Gunn Phenomenon 8
1592 c OCY007 Oocyte Maturation Defect 6 8
1593 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1594 CNG278 Congenital Pseudoarthrosis of the Radius 8
1595 CNG283 Congenital Pseudoarthrosis of the Femur 8
1596 9P1001 9p13 Microdeletion Syndrome 8
1597 PRN048 Prenatal Benign Hypophosphatasia 8
1598 DST087 Distal Trisomy 7p 8
1599 TBF001 Tibio-Fibular Synostosis 8
1600 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 8
1601 3Q2006 3q27.3 Microdeletion Syndrome 8
1602 MCR184 Macrodactyly of Fingers 8
1603 AML037 Amelia of Upper Limb 8
1604 MRN008 Marin-Amat Syndrome 8
1605 c PST077 Posterior Meningocele 8
1606 PRC042 Parachute Tricuspid Valve 8
1607 ACC010 Accessory Tricuspid Valve Tissue 8
1608 ECT107 Ectasia of the Left Atrial Appendage 8
1609 CHR512 Cheirospondyloenchondromatosis 8
1610 APD003 Apodia 8
1611 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1612 PHK009 Phakomatosis Cesiomarmorata 8
1613 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 8
1614 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 8
1615 BPR001 Bipartite Talus 8
1616 c ZYG005 Zygodactyly Type 4 8
1617 c GLC032 Glaucoma, Hereditary 8
1618 c ATS410 Autosomal Dominant Intellectual Disability 49 7
1619 c CNG348 Congenital Sialidosis Type 2 7
1620 c ATS360 Autosomal Recessive Intellectual Disability 58 7
1621 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
1622 P RBN007 Rubinstein Taybi Like Syndrome 7
1623 DNC006 Diencephalic-Mesencephalic Junction Dysplasia 7
1624 LRY034 Laryngotracheal Angioma 7
1625 DST085 Distal Trisomy 2q 7
1626 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
1627 DST076 Distal Trisomy 13q 7
1628 TRS020 Tarsal Kink Syndrome 7
1629 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 7
1630 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 7
1631 INT254 Intermediate Anorectal Malformation 7
1632 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 7
1633 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1634 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
1635 TNN014 Tunnel Subaortic Stenosis 7
1636 IDP088 Idiopathic Isolated Micropenis 7
1637 ATS109 Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita 7
1638 HMR031 Humeral Agenesis/hypoplasia 7
1639 HYP500 Hyperphalangy, Unilateral 7
1640 c CNG476 Congenital Systemic Arteriovenous Fistula 7
1641 CNG272 Congenital Achiasma 7
1642 CRD171 Cordiform Uterus 7
1643 ISL034 Isolated Megalencephaly 7
1644 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
1645 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 7
1646 c LRY048 Laryngotracheoesophageal Cleft Type 0 7
1647 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
1648 RNN007 Reunion Island Larsen-Like Syndrome 7
1649 DST078 Distal Trisomy 6q 7
1650 4P1001 4p16.3 Microduplication Syndrome 7
1651 c TRR002 Trio-Related Intellectual Disability 7
1652 c ACR048 Acrorenal Syndrome Recessive 7
1653 c WCR002 Wac-Related Intellectual Disability 7
1654 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 7
1655 c SN3001 Sin3a-Related Intellectual Disability Syndrome 7
1656 CNG327 Congenital Epstein-Barr Virus Infection 6
1657 PRT111 Partial Septate Uterus 6
1658 c ISL045 Isolated Focal Cortical Dysplasia Type I 6
1659 DST058 Distal Monosomy 12p 6
1660 INT186 Intralobar Congenital Pulmonary Sequestration 6
1661 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
1662 UPP009 Upper Limb Hypertrophy 6
1663 CNG287 Congenital Absence of Both Forearm and Hand 6
1664 DST069 Distal Monosomy 12q 6
1665 CNG289 Congenital Absence/hypoplasia of Thumb 6
1666 c PTR021 Paternal Uniparental Disomy of Chromosome 21 6
1667 DST073 Distal Monosomy 7p 6
1668 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
1669 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
1670 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 6
1671 DST066 Distal Monosomy 20q 6
1672 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 6
1673 DST057 Distal Trisomy 19q 6
1674 HYP501 Hyperphalangy, Bilateral 6
1675 RDL019 Radio-Ulnar Synostosis, Unilateral 6
1676 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 6
1677 c PRD024 Prader-Willi Syndrome Due to Translocation 6
1678 c ATS403 Autosomal Dominant Intellectual Disability 40 6
1679 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6
1680 CNG290 Congenital Absence of Both Lower Leg and Foot 6
1681 20P002 20p13 Microdeletion Syndrome 6
1682 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 6
1683 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
1684 1P3003 1p35.2 Microdeletion Syndrome 6
1685 c ANG058 Angelman Syndrome Due to a Point Mutation 6
1686 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 6
1687 MSC079 Mosaic Trisomy 1 6
1688 MDN007 Median Cleft Lip/mandibule 6
1689 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1690 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
1691 14Q003 14q11.2 Microduplication Syndrome 6
1692 7Q3001 7q31 Microdeletion Syndrome 6
1693 DST054 Distal 17p13.3 Microdeletion Syndrome 6
1694 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 6
1695 RTN189 Retinal Capillary Malformation 6
1696 c ATS348 Autosomal Dominant Intellectual Disability 30 6
1697 EXT047 Extralobar Congenital Pulmonary Sequestration 6
1698 DST088 Distal Trisomy 1p36 6
1699 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 6
1700 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 6
1701 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 6
1702 HMR036 Humero-Ulnar Synostosis, Unilateral 6
1703 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 6
1704 12Q001 12q15q21.1 Microdeletion Syndrome 6
1705 11P002 11p15.4 Microduplication Syndrome 6
1706 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 6
1707 P HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 6
1708 P CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 6
1709 EXT043 External Auditory Canal Aplasia/hypoplasia 6
1710 DST084 Distal Trisomy 8q 6
1711 ISL028 Isolated Cerebellar Vermis Hypoplasia 6
1712 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
1713 P ISL038 Isolated Focal Cortical Dysplasia Type Ib 6
1714 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
1715 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 6
1716 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
1717 DST075 Distal Trisomy 16q 6
1718 BLK004 Blake Pouch Cyst 6
1719 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 6
1720 HMR037 Humero-Ulnar Synostosis, Bilateral 6
1721 DST077 Distal Trisomy 22q 6
1722 14Q005 14q24.1q24.3 Microdeletion Syndrome 6
1723 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 6
1724 CHN052 Choanal Atresia, Bilateral 6
1725 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 6
1726 CCH007 Cochleovestibular Dysplasia 6
1727 DST070 Distal Monosomy 4q 6
1728 ISL022 Isolated Congenital Nasal Pyriform Aperture Stenosis 6
1729 16Q002 16q24.1 Microdeletion Syndrome 6
1730 RDL020 Radio-Ulnar Synostosis, Bilateral 6
1731 9Q3001 9q31.1q31.3 Microdeletion Syndrome 6
1732 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
1733 CMM018 Common Mesentery 6
1734 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1735 ISL079 Isolated Encephalocele 5
1736 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1737 ART099 Aortic Valve Dysplasia 5
1738 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 5
1739 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1740 SYN096 Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication 5
1741 MCR190 Macrodactyly of Toes, Unilateral 5
1742 ATY020 Atypical Norrie Disease Due to Monosomy Xp11.3 5
1743 c PTR020 Paternal Uniparental Disomy of Chromosome 20 5
1744 NND007 Non-Distal Monosomy 12q 5
1745 3Q2005 3q26q27 Microdeletion Syndrome 5
1746 NND009 Non-Distal Trisomy 9q 5
1747 DST067 Distal Monosomy 14q 5
1748 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
1749 CNG334 Congenital Esophageal Diverticulum 5
1750 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
1751 XYL001 Xylt1-Cdg 5
1752 MCR188 Macrodactyly of Fingers, Unilateral 5
1753 NND006 Non-Distal Monosomy 20q 5
1754 c HYD017 Hydrocephalus Autosomal Recessive 5
1755 ISL029 Isolated Anorectal Malformation 5
1756 SBC038 Sub-Cortical Nodular Heterotopia 5
1757 UTR055 Uterine Cervical Aplasia and Agenesis 5
1758 FCL034 Facial Dermoid Cyst 5
1759 MDL017 Madelung Deformity, Bilateral 5
1760 CMM016 Commissural Lip Fistula 5
1761 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 5
1762 ISL051 Isolated Partial Cerebellar Vermis Agenesis 5
1763 CNG353 Congenital Partial Agenesis of Pericardium 5
1764 ISL071 Isolated Congenital Ectropion 5
1765 PRT091 Partial Cryptophthalmia 5
1766 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 5
1767 P SYC001 Say Carpenter Syndrome 5
1768 DYS128 Dysplasia of Head of Femur, Meyer Type 5
1769 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 5
1770 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
1771 CHN051 Choanal Atresia, Unilateral 5
1772 CNG517 Congenital Agenesis of the Scrotum 5
1773 CNG331 Congenital Bilateral Megacalycosis 5
1774 AGN009 Agenesis and Aplasia of Uterine Body 5
1775 ISL056 Isolated Lissencephaly Type 1 Without Known Genetic Defects 5
1776 16P011 16p12.1p12.3 Triplication Syndrome 5
1777 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 5
1778 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
1779 INT341 Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome 5
1780 CNG536 Congenital Stenosis or Atresia of the Coronary Ostium 5
1781 UNL012 Unilateral Hemispheric Polymicrogyria 5
1782 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1783 ERL027 Early-Onset Non-Syndromic Cataract 5
1784 MTR068 Mitral Valve Agenesis 5
1785 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
1786 20Q002 20q11.2 Microduplication Syndrome 5
1787 ISL117 Isolated Congenital Radial Head Dislocation 5
1788 UNL009 Unilateral Congenital Megacalycosis 5
1789 CNG391 Congenital Pseudoarthrosis of the Limbs 5
1790 c ISL052 Isolated Total Cerebellar Vermis Agenesis 5
1791 CNG354 Congenital Complete Agenesis of Pericardium 5
1792 P LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 5
1793 AML036 Amelia of Lower Limb 5
1794 TRC084 Tricuspid Valve Agenesis 5
1795 LWR011 Lower Lip Fistula 5
1796 P ISL048 Isolated Cerebellar Vermis Agenesis 5
1797 MDL018 Madelung Deformity, Unilateral 5
1798 PRM160 Premature Closure of the Arterial Duct 5
1799 ERL042 Early-Onset Partial Cataract 5
1800 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
1801 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 5
1802 c OCL037 Oculodentodigital Dysplasia Dominant 5
1803 c GLC029 Glaucoma Type 1c 4
1804 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1805 c GLC035 Glaucoma, Primary Infantile Type 3a 4
1806 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1807 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 4
1808 ISL044 Isolated Arhinencephaly 4
1809 INT219 Intramural Coronary Arterial Course 4
1810 HYP506 Hypoplasia of the Mitral Valve Annulus 4
1811 OPN003 Open Iniencephaly 4
1812 CLS021 Closed Iniencephaly 4
1813 ISL106 Isolated Congenital Microcephaly 4
1814 c FML317 Familial Monosomy 7 Syndrome 4
1815 MCR189 Macrodactyly of Toes, Bilateral 4
1816 c PTR023 Paternal Uniparental Disomy of Chromosome 13 4
1817 P TSS001 Tessier Number 5 Facial Cleft 4
1818 LWM001 Low Implantation of Placenta 4
1819 c PRM147 Primary Megaureter, Adult-Onset Form 4
1820 2P1003 2p13.2 Microdeletion Syndrome 4
1821 c MTR079 Maternal Uniparental Disomy of Chromosome 13 4
1822 CNG315 Congenital Vertical Talus, Unilateral 4
1823 c MTR065 Maternal Uniparental Disomy of Chromosome 21 4
1824 ISL107 Isolated Congenital Syngnathia 4
1825 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 4
1826 MCR367 Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 4
1827 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1828 4Q2002 4q25 Proximal Deletion Syndrome 4
1829 MCR187 Macrodactyly of Fingers, Bilateral 4
1830 ENC035 Encircling Double Aortic Arch 4
1831 DGS007 Digestive Duplication 4
1832 CNG316 Congenital Vertical Talus, Bilateral 4
1833 MYB004 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome 4
1834 c ARX002 Arx-Related Intellectual Disability 4
1835 c DDX001 Ddx3x-Related Intellectual Disability 4
1836 c ACS002 Acsl4-Related Intellectual Disability 4
1837 PRT109 Partially Involuting Congenital Hemangioma 4
1838 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 4
1839 STR075 Straddling or Overriding Tricuspid Valve 4
1840 STR076 Straddling and/or Overriding Mitral Valve 4
1841 17Q012 17q24.2 Microdeletion Syndrome 4
1842 CNG361 Congenital Supravalvular Mitral Ring 4
1843 PNN004 Pinnae Fistula or Cyst 4
1844 CNG270 Congenital Primary Megaureter, Obstructed Form 4
1845 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 4
1846 ISL035 Isolated Amyelia 4
1847 LTH040 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome 4
1848 ISL132 Isolated Megalopapilla 4
1849 MLP005 Malposition of the Coronary Ostium 4
1850 ISL130 Isolated Congenital Entropion 4
1851 SPR139 Superior Celosomia 4
1852 XLN147 X-Linked Intellectual Disability, Stoll Type 4
1853 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 4
1854 CNG360 Congenital Unguarded Mitral Orifice 4
1855 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1856 OVR117 Overgrowth Syndrome with 2q37 Translocation 4
1857 FRN038 Frontonasal Arteriovenous Malformation 4
1858 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 4
1859 NSL027 Nasal Dorsum Fistula 4
1860 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
1861 ISL127 Isolated Blepharochalasis 4
1862 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
1863 ABN010 Abnormal Number of Coronary Ostia 4
1864 LPT012 Leptomyelolipoma 4
1865 SPR109 Supratip Dysplasia 4
1866 ISL126 Isolated Iridoschisis 4
1867 TRC124 True Congenital Shoulder Dislocation 4
1868 MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 4
1869 CRN206 Coronary Artery Intramyocardial Course 4
1870 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 4
1871 DSC011 Discrete Fibromuscular Subaortic Stenosis 4
1872 XLN157 X-Linked Intellectual Disability, Porteous Type 4
1873 ART114 Aortopulmonary Coronary Arterial Course 4
1874 ANM025 Anomaly of the Mitral Subvalvular Apparatus 4
1875 c FRG006 Fragile X Syndrome Type 3 4
1876 c FRG005 Fragile X Syndrome Type 2 4
1877 c FRG004 Fragile X Syndrome Type 1 4
1878 NNT001 Neonatal Infective Mastitis 4
1879 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 3
1880 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 3
1881 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3
1882 MDN006 Median Cleft of the Upper Lip and Maxilla 3
1883 DPH029 Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome 3
1884 CNG321 Congenital Elbow Dislocation, Bilateral 3
1885 CNG317 Congenital Genu Flexum 3
1886 CNG322 Congenital Elbow Dislocation, Unilateral 3
1887 TBL020 Tubular Duplication of the Esophagus 3
1888 c TSS003 Tessier Number 6 Facial Cleft 3
1889 GLP005 Glioependymal/ependymal Cyst 3
1890 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 3
1891 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3
1892 CRV059 Cervicofacial Fibrochondroma 3
1893 P LGB001 Leg Absence Deformity Cataract 3
1894 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 3
1895 EMB004 Embryonal Carcinoma 60
1896 PRL032 Perlman Syndrome 44
1897 c WLM018 Wilms Tumor 5 64
1898 c WLM011 Wilms Tumor 6 40
1899 P HRD009 Hereditary Wilms' Tumor 35
1900 c WLM005 Wilms Tumor 2 20
1901 c WLM017 Wilms Tumor 4 19
1902 c WLM015 Wilms Tumor 3 15
1903 c FML094 Familial Wilms Tumor 2 7
1904 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 38
1905 c CNG133 Congenital Varicella Syndrome 29
1906 P VRC007 Varicella, Severe Recurrent 8
1907 TWN001 Twin-to-Twin Transfusion Syndrome 51
1908 FTL009 Fetal Akinesia Deformation Sequence 53
1909 DTH005 Diethylstilbestrol Syndrome 32
1910 IMM039 Immune Hydrops Fetalis 30
1911 FTL011 Fetal Aminopterin Syndrome 9
1912 FTL018 Fetal Indomethacin Syndrome 16
1913 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 14
1914 TST033 Testicular Regression Syndrome 32
1915 EMB015 Embryonal Tumor with Multilayered Rosettes 28
1916 P END039 Endodermal Sinus Tumor 46
1917 TRT001 Teratocarcinoma 41
1918 GCH018 Gaucher Disease, Perinatal Lethal 37
1919 c ADL047 Adult Endodermal Sinus Tumor 9
1920 MRS006 Morse-Rawnsley-Sargent Syndrome 5
1921 c ART120 Arthrogryposis, Distal, Type 3 52
1922 c ART119 Arthrogryposis, Distal, Type 5 50
1923 c ART061 Arthrogryposis, Distal, Type 2a 45
1924 c ART146 Arthrogryposis, Distal, Type 9 41
1925 P BTR001 Botryoid Rhabdomyosarcoma 39
1926 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 34
1927 c ART147 Arthrogryposis, Distal, Type 7 34
1928 c ART112 Arthrogryposis, Distal, Type 10 29
1929 c ART128 Arthrogryposis, Distal, Type 6 23
1930 FTL024 Fetal Minoxidil Syndrome 15
1931 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 14
1932 PHN013 Phenobarbital Antenatal Exposure 8
1933 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
1934 P RBL001 Rubella 62
1935 GRM005 Germ Cell Cancer 54
1936 c CNG124 Congenital Rubella 49
1937 EMB007 Embryonal Sarcoma 47
1938 BWN001 Bowen-Conradi Syndrome 43
1939 c ANT086 Anterior Segment Dysgenesis 2 38
1940 FTL064 Fetal Methylmercury Syndrome 26
1941 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 25
1942 AMN014 Aminopterin Syndrome Sine Aminopterin 25
1943 c LTH042 Lethal Congenital Contracture Syndrome 10 24
1944 HRS002 Hersh Podruch Weisskopk Syndrome 21
1945 MTR016 Maternal Hyperphenylalaninemia 20
1946 CCN012 Cocaine Antenatal Exposure 19
1947 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 13
1948 NNT022 Neonatal Ovarian Cyst 12
1949 P FTL014 Fetal Brain Disruption Sequence 11
1950 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 8
1951 SMM002 Semmekrot Haraldsson Weemaes Syndrome 3
1952 FTL017 Fetal Enterovirus Syndrome 3
1953 P OST002 Osteoporosis 74
1954 APR006 Apert Syndrome 70
1955 c ART115 Aortic Valve Disease 1 70
1956 P CRN037 Craniosynostosis 66
1957 c MCL062 Mucolipidosis Ii Alpha/beta 65
1958 c CNG411 Congenital Disorder of Glycosylation, Type in 65
1959 P CRN015 Cornelia De Lange Syndrome 64
1960 P HYP055 Hypoplastic Left Heart Syndrome 62
1961 P AXN002 Axenfeld-Rieger Syndrome 62
1962 P INT068 Intestinal Disease 62
1963 PTR032 Peters-Plus Syndrome 61
1964 DNH001 Donohue Syndrome 60
1965 PLM070 Pulmonic Stenosis 60
1966 OCL020 Ocular Cicatricial Pemphigoid 60
1967 c SPN294 Spinocerebellar Ataxia 1 60
1968 P SPN301 Spinocerebellar Ataxia 2 60
1969 c GLC097 Glaucoma 3, Primary Congenital, a 59
1970 P MCR010 Microcephaly 59
1971 PLC008 Placenta Disease 59
1972 PTN001 Patent Foramen Ovale 59
1973 c MYT020 Myotonic Dystrophy 2 59
1974 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 59
1975 P INT099 Intrahepatic Cholestasis of Pregnancy 59
1976 c VSC019 Vesicoureteral Reflux 1 58
1977 P SLV001 Silver-Russell Syndrome 58
1978 PLC005 Placental Insufficiency 58
1979 SMT008 Smith-Magenis Syndrome 58
1980 CHR619 Chromosome 2q35 Duplication Syndrome 58
1981 P EPD009 Epidermolysis Bullosa Dystrophica 58
1982 c INT072 Intestinal Pseudo-Obstruction 57
1983 CNT061 Conotruncal Heart Malformations 57
1984 P VND007 Van Der Woude Syndrome 1 57
1985 c CRN139 Cornelia De Lange Syndrome 1 56
1986 MCN017 Meconium Ileus 56
1987 P STC001 Stickler Syndrome 56
1988 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56
1989 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
1990 GRG001 Greig Cephalopolysyndactyly Syndrome 56
1991 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 55
1992 DXT001 Dextrocardia 55
1993 P INT070 Intestinal Obstruction 55
1994 P STS008 Sotos Syndrome 1 55
1995 P HYD033 Hydrolethalus Syndrome 1 55
1996 RTN209 Retinoschisis 1, X-Linked, Juvenile 55
1997 c BRC051 Brachydactyly, Type B1 55
1998 P SCK004