Fetal Diseases Category (4529 diseases)


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

# Family MCID Name MIFTS
1 HYD038 Hydrops Fetalis, Nonimmune 51
2 HYD012 Hydrops Fetalis 51
3 P EMB005 Embryonal Rhabdomyosarcoma 54
4 MCR078 Microphthalmia Microtia Fetal Akinesia 17
5 FTL028 Fetal Retinoid Syndrome 15
6 VLP002 Valproate Embryopathy 47
7 MTH070 Methimazole Antenatal Exposure 18
8 P FTL069 Fetal Akinesia Deformation Sequence 1 47
9 ACT091 Acitretin Embryopathy 5
10 c LYM145 Lymphatic Malformation 5 50
11 P LYM127 Lymphatic Malformations 50
12 c FTL006 Fetal Alcohol Spectrum Disorder 50
13 c LYM144 Lymphatic Malformation 1 41
14 c LYM150 Lymphatic Malformation 7 40
15 P PRG092 Pregnancy Loss, Recurrent 1 33
16 FTL007 Fetal Hydantoin Syndrome 30
17 c LYM148 Lymphatic Malformation 4 24
18 c LYM147 Lymphatic Malformation 3 21
19 c LYM146 Lymphatic Malformation 2 15
20 c CNG133 Congenital Varicella Syndrome 28
21 IST007 Isotretinoin Embryopathy-Like Syndrome 24
22 P VRC007 Varicella, Severe Recurrent 10
23 IST006 Isotretinoin Syndrome 22
24 TWN001 Twin-to-Twin Transfusion Syndrome 50
25 NCH001 Nuchal Bleb, Familial 28
26 P PRM252 Preimplantation Embryonic Lethality 1 17
27 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 44
28 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 43
29 P OTS002 Otospondylomegaepiphyseal Dysplasia 41
30 EMB006 Embryonal Testis Carcinoma 36
31 c RHB023 Rhabdomyosarcoma, Embryonal, 1 29
32 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 17
33 CHL043 Childhood Embryonal Testis Carcinoma 9
34 P FTL001 Fetal Alcohol Syndrome 63
35 DTH005 Diethylstilbestrol Syndrome 31
36 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 22
37 P CNT003 Central Nervous System Embryonal Carcinoma 10
38 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 7
39 PRP094 Propylthiouracil Embryofetopathy 5
40 PRS030 Persistent Fetal Circulation Syndrome 47
41 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
42 P PNT019 Pontocerebellar Hypoplasia 43
43 c PNT049 Pontocerebellar Hypoplasia, Type 2d 42
44 OVR050 Ovarian Embryonal Carcinoma 41
45 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
46 c PNT010 Pontocerebellar Hypoplasia Type 1 40
47 c PNT037 Pontocerebellar Hypoplasia, Type 3 40
48 FTL004 Fetal Erythroblastosis 40
49 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
50 c PNT045 Pontocerebellar Hypoplasia, Type 1a 35
51 c PNT043 Pontocerebellar Hypoplasia, Type 4 33
52 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
53 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
54 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
55 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
56 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
57 c PNT039 Pontocerebellar Hypoplasia, Type 7 28
58 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
59 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
60 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
61 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
62 c PNT048 Pontocerebellar Hypoplasia, Type 2c 23
63 c PNT042 Pontocerebellar Hypoplasia, Type 2f 23
64 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
65 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 12
66 CHL026 Childhood Ovarian Embryonal Carcinoma 9
67 c ADL007 Adult Central Nervous System Embryonal Carcinoma 9
68 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 7
69 AMN013 Aminopterin/methotrexate Embryofetopathy 17
70 ACT206 Acitretin/etretinate Embryopathy 16
71 FTL066 Fetal Akinesia Syndrome, X-Linked 13
72 FTL011 Fetal Aminopterin Syndrome 9
73 P TXP001 Toxoplasmosis 66
74 c CNG021 Congenital Toxoplasmosis 56
75 CCN007 Cocoon Syndrome 41
76 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
77 FTL018 Fetal Indomethacin Syndrome 15
78 GRM001 Germ Cell and Embryonal Cancer 33
79 FTL029 Fetal Thalidomide Syndrome 31
80 INT041 Intratubular Embryonal Carcinoma 28
81 c RHB021 Rhabdomyosarcoma, Embryonal, 2 15
82 c PRM251 Preimplantation Embryonic Lethality 2 14
83 PDT006 Pediatric Cns Embryonal Cell Carcinoma 7
84 P CTR002 Cataract 59
85 P PRS062 Persistent Hyperplastic Primary Vitreous 41
86 c CTR103 Cataract 4, Multiple Types 37
87 c CTR118 Cataract 14, Multiple Types 36
88 c CTR170 Cataract 30, Multiple Types 36
89 c CTR115 Cataract 16, Multiple Types 35
90 c CTR141 Cataract 21, Multiple Types 35
91 c CTR122 Cataract 5, Multiple Types 35
92 c CTR125 Cataract 7 33
93 c CTR145 Cataract 44 33
94 c CTR102 Cataract 2, Multiple Types 33
95 c CTR096 Cataract 6, Multiple Types 33
96 c CTR158 Cataract 37 31
97 c CTR129 Cataract 31, Multiple Types 30
98 c CTR174 Cataract 40 30
99 EMB015 Embryonal Tumor with Multilayered Rosettes 29
100 FTL062 Fetal Iodine Deficiency Disorder 28
101 c CTR113 Cataract 11, Multiple Types 28
102 c CTR175 Cataract 24 27
103 FTL016 Fetal Edema 25
104 c CTR169 Cataract 29 25
105 c CTR166 Cataract 33, Multiple Types 25
106 c CTR131 Cataract 17, Multiple Types 24
107 c CTR181 Cataract 18 24
108 c CTR162 Cataract 47 24
109 c CTR180 Cataract 22, Multiple Types 23
110 c CTR165 Cataract 19, Multiple Types 23
111 c CTR119 Cataract 32, Multiple Types 23
112 c CTR184 Cataract 39, Multiple Types 22
113 c CTR097 Cataract 34, Multiple Types 21
114 c CTR111 Cataract 36 21
115 c CTR183 Cataract 38 20
116 c CTR159 Cataract 35 20
117 c CTR185 Cataract 30 20
118 c CTR106 Cataract 20, Multiple Types 19
119 c CTR163 Cataract 46, Juvenile-Onset 19
120 c CTR121 Cataract 25 19
121 c CTR110 Cataract 26, Multiple Types 19
122 PRS010 Prostate Embryonal Rhabdomyosarcoma 18
123 c CTR144 Cataract 43 18
124 c CTR139 Cataract 42 18
125 c CTR157 Cataract 28 18
126 ORB002 Orbit Embryonal Rhabdomyosarcoma 18
127 c CTR160 Cataract 45 18
128 c CTR178 Cataract 27 17
129 CCN010 Cocaine Embryofetopathy 17
130 c CTR025 Cataract, Total Congenital 17
131 MYC060 Mycophenolate Mofetil Embryopathy 16
132 c CTR187 Cataract 48 16
133 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 14
134 c CTR128 Cataract 33 14
135 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 9
136 c CTR008 Cataract Congenital Autosomal Dominant 8
137 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
138 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 6
139 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 5
140 VTM006 Vitamin a Embryopathy 2
141 c RBN009 Robinow Syndrome, Autosomal Recessive 49
142 c RBN018 Robinow Syndrome, Autosomal Dominant 1 41
143 GCH018 Gaucher Disease, Perinatal Lethal 38
144 MRS006 Morse-Rawnsley-Sargent Syndrome 4
145 P DST002 Distal Arthrogryposis 60
146 c ART144 Arthrogryposis, Distal, Type 1a 53
147 c ART120 Arthrogryposis, Distal, Type 3 52
148 EMB002 Embryoma 47
149 c ART155 Arthrogryposis, Distal, Type 2b1 47
150 c ART061 Arthrogryposis, Distal, Type 2a 45
151 c ART146 Arthrogryposis, Distal, Type 9 42
152 ALC001 Alcohol-Related Birth Defect 42
153 c ART147 Arthrogryposis, Distal, Type 7 36
154 c ART119 Arthrogryposis, Distal, Type 5 34
155 c ART112 Arthrogryposis, Distal, Type 10 29
156 c ART104 Arthrogryposis, Distal, Type 5d 28
157 c ART128 Arthrogryposis, Distal, Type 6 27
158 c ART131 Arthrogryposis, Distal, Type 4 25
159 c ART122 Arthrogryposis, Distal, Type 8 25
160 PRT001 Partial Fetal Alcohol Syndrome 23
161 c FTL070 Fetal Akinesia Deformation Sequence 2 21
162 c ART060 Arthrogryposis, Distal, Type 1b 20
163 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 19
164 c ART054 Arthrogryposis, Distal, Type 2e 17
165 c ART156 Arthrogryposis, Distal, Type 2b2 17
166 c ART157 Arthrogryposis, Distal, Type 2b3 16
167 FTL058 Fetal Trimethadione Syndrome 16
168 c FTL071 Fetal Akinesia Deformation Sequence 3 16
169 FTL026 Fetal Parvovirus Syndrome 15
170 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 14
171 FTL024 Fetal Minoxidil Syndrome 14
172 c FTL072 Fetal Akinesia Deformation Sequence 4 13
173 PHN013 Phenobarbital Antenatal Exposure 7
174 P MCK013 Meckel Syndrome, Type 1 62
175 P RBL001 Rubella 62
176 c NML002 Nemaline Myopathy 1 50
177 c NML003 Nemaline Myopathy 2 49
178 P NML001 Nemaline Myopathy 48
179 c CNG124 Congenital Rubella 48
180 FTL021 Fetal Macrosomia 46
181 c LTH008 Lethal Congenital Contracture Syndrome 2 46
182 c MCK032 Meckel Syndrome, Type 3 44
183 c NML004 Nemaline Myopathy 3 44
184 c MCK012 Meckel Syndrome, Type 6 44
185 P ANT088 Anterior Segment Dysgenesis 43
186 c ATS082 Autosomal Dominant Robinow Syndrome 43
187 BWN001 Bowen-Conradi Syndrome 43
188 c NML005 Nemaline Myopathy 4 40
189 c MCK033 Meckel Syndrome, Type 4 39
190 c ANT086 Anterior Segment Dysgenesis 2 39
191 c MCK031 Meckel Syndrome, Type 2 39
192 c MCK014 Meckel Syndrome, Type 5 37
193 c MCK030 Meckel Syndrome, Type 7 36
194 c NML006 Nemaline Myopathy 5 36
195 c SVR040 Severe Congenital Nemaline Myopathy 35
196 c MCK034 Meckel Syndrome, Type 8 33
197 c CTR132 Cataract 3, Multiple Types 32
198 P LTH003 Lethal Congenital Contracture Syndrome 31
199 c INT274 Intermediate Congenital Nemaline Myopathy 31
200 FTL005 Fetal Adenoma 31
201 AMN014 Aminopterin Syndrome Sine Aminopterin 29
202 PRX085 Preaxial Hallucal Polydactyly 27
203 c MCK028 Meckel Syndrome 13 27
204 c LTH039 Lethal Congenital Contracture Syndrome 11 26
205 c LTH027 Lethal Congenital Contracture Syndrome 5 26
206 c MCK035 Meckel Syndrome, Type 10 26
207 c NML007 Nemaline Myopathy 6 25
208 c ADL068 Adult-Onset Nemaline Myopathy 25
209 FTL064 Fetal Methylmercury Syndrome 25
210 c LTH031 Lethal Congenital Contracture Syndrome 6 25
211 c NML010 Nemaline Myopathy 7 24
212 c MCK026 Meckel Syndrome 12 24
213 c LTH047 Lethal Congenital Contracture Syndrome 3 23
214 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
215 c LTH029 Lethal Congenital Contracture Syndrome 9 23
216 c MCK036 Meckel Syndrome, Type 9 22
217 c NML021 Nemaline Myopathy 9 21
218 c MCK020 Meckel Syndrome, Type 11 21
219 HRS002 Hersh Podruch Weisskopk Syndrome 20
220 MTR016 Maternal Hyperphenylalaninemia 20
221 c LTH026 Lethal Congenital Contracture Syndrome 4 20
222 c NML025 Nemaline Myopathy 8 19
223 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 19
224 CCN012 Cocaine Antenatal Exposure 18
225 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 17
226 PRV001 Parovarian Cyst 16
227 FTL044 Fetal Cytomegalovirus Syndrome 14
228 CHL030 Childhood Botryoid Rhabdomyosarcoma 14
229 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 14
230 NNT022 Neonatal Ovarian Cyst 13
231 c SPR105 Sporadic Fetal Brain Disruption Sequence 13
232 c RR2001 Ror2-Related Robinow Syndrome 13
233 FTL048 Fetal Lung Interstitial Tumor 12
234 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 12
235 EMB014 Embryonary Disorganization Syndrome 11
236 THY113 Thymic Aplasia with Fetal Death 9
237 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 8
238 FTL020 Fetal Left Ventricular Aneurysm 6
239 FTL049 Fetal Carbamazepine Syndrome 5
240 MXD015 Mixed Type Rhabdomyosarcoma 5
241 LSS032 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome 5
242 SMT021 Somatomedin, Embryonic 3
243 FTL063 Fetal Nicotine Spectrum Disorder 3
244 SMM002 Semmekrot Haraldsson Weemaes Syndrome 3
245 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 2
246 FTL027 Fetal Phenothiazine Syndrome 2
247 P ATX030 Ataxia-Telangiectasia 82
248 P FNC027 Fanconi Anemia, Complementation Group a 81
249 PFF001 Pfeiffer Syndrome 80
250 P NNN008 Noonan Syndrome 1 78
251 KPS004 Kaposi Sarcoma 77
252 P NRF023 Neurofibromatosis, Type Ii 75
253 MRF001 Marfan Syndrome 75
254 PHN003 Phenylketonuria 74
255 VNH007 Von Hippel-Lindau Syndrome 72
256 P TRN020 Turner Syndrome 71
257 FBR012 Fabry Disease 71
258 P ALG028 Alagille Syndrome 1 70
259 P DMN001 Diamond-Blackfan Anemia 70
260 APR006 Apert Syndrome 69
261 P FRG001 Fragile X Syndrome 69
262 SMT004 Smith-Lemli-Opitz Syndrome 68
263 P PSD087 Pseudoxanthoma Elasticum 68
264 P HYD006 Hydrocephalus 67
265 P DYS007 Dyskeratosis Congenita 67
266 c FML346 Familial Adenomatous Polyposis 1 67
267 c TBR026 Tuberous Sclerosis 2 66
268 c MCP050 Mucopolysaccharidosis, Type Ii 66
269 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
270 P KBK002 Kabuki Syndrome 1 66
271 INC021 Incontinentia Pigmenti 66
272 c NNN010 Noonan Syndrome 3 65
273 P CCK001 Cockayne Syndrome 65
274 c MCL062 Mucolipidosis Ii Alpha/beta 64
275 NRR002 Norrie Disease 64
276 CST001 Costello Syndrome 64
277 P CRD224 Cardiofaciocutaneous Syndrome 1 64
278 c CNG411 Congenital Disorder of Glycosylation, Type in 64
279 c MCP049 Mucopolysaccharidosis, Type Vii 64
280 c ART101 Aortic Valve Disease 2 63
281 WLL001 Williams-Beuren Syndrome 63
282 P SHW006 Shwachman-Diamond Syndrome 1 63
283 P CRN015 Cornelia De Lange Syndrome 63
284 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 62
285 P HYP055 Hypoplastic Left Heart Syndrome 61
286 KLP010 Klippel-Trenaunay-Weber Syndrome 61
287 P VNT002 Ventricular Septal Defect 61
288 P HRD008 Hereditary Hemorrhagic Telangiectasia 60
289 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
290 CHR619 Chromosome 2q35 Duplication Syndrome 60
291 P MLG056 Malignant Hyperthermia 60
292 OCL020 Ocular Cicatricial Pemphigoid 60
293 c SVR001 Severe Acute Respiratory Syndrome 60
294 DNH001 Donohue Syndrome 60
295 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 60
296 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60
297 P WLF004 Wolfram Syndrome 60
298 PLM070 Pulmonic Stenosis 60
299 CNT061 Conotruncal Heart Malformations 60
300 NWB001 Newborn Respiratory Distress Syndrome 59
301 PTR032 Peters-Plus Syndrome 59
302 NTH001 Netherton Syndrome 59
303 CFF002 Coffin-Lowry Syndrome 59
304 PTN001 Patent Foramen Ovale 59
305 c GLC097 Glaucoma 3, Primary Congenital, a 59
306 PLC008 Placenta Disease 59
307 ANG020 Angiosarcoma 59
308 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 58
309 P OCL013 Oculodentodigital Dysplasia 58
310 c MYT020 Myotonic Dystrophy 2 58
311 c PRX045 Peroxisome Biogenesis Disorder 1b 58
312 P SYP003 Syphilis 58
313 c CRP023 Carpenter Syndrome 1 58
314 STR039 Sturge-Weber Syndrome 58
315 P AXN002 Axenfeld-Rieger Syndrome 57
316 P ICH004 Ichthyosis 57
317 P PLY006 Polydactyly 57
318 P SLV001 Silver-Russell Syndrome 57
319 ANN002 Anencephaly 57
320 c CRN139 Cornelia De Lange Syndrome 1 57
321 SMT008 Smith-Magenis Syndrome 57
322 LCR014 Lacrimoauriculodentodigital Syndrome 57
323 P LYS001 Loeys-Dietz Syndrome 57
324 P VND007 Van Der Woude Syndrome 1 57
325 OST024 Osteoporosis-Pseudoglioma Syndrome 56
326 P STC001 Stickler Syndrome 56
327 CLF004 Cleft Lip/palate 56
328 GRG001 Greig Cephalopolysyndactyly Syndrome 56
329 P PRM011 Primary Ciliary Dyskinesia 55
330 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 55
331 c WLF013 Wolfram Syndrome 1 55
332 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
333 ART002 Arts Syndrome 55
334 P HLL001 Hallermann-Streiff Syndrome 55
335 P HYD033 Hydrolethalus Syndrome 1 55
336 c NNN012 Noonan Syndrome 5 55
337 P CRN108 Cranioectodermal Dysplasia 1 55
338 HRL003 Hurler Syndrome 55
339 DXT001 Dextrocardia 54
340 c BRC078 Brachydactyly, Type A1 54
341 P SCK004 Seckel Syndrome 54
342 MLT135 Multiple Sulfatase Deficiency 54
343 c BRC051 Brachydactyly, Type B1 54
344 ABL002 Ablepharon-Macrostomia Syndrome 53
345 c NNN009 Noonan Syndrome 2 53
346 CHR005 Chorioamnionitis 53
347 MCK005 Mckusick-Kaufman Syndrome 53
348 OLG003 Oligohydramnios 53
349 RNP003 Renpenning Syndrome 1 53
350 ECT026 Ectopic Pregnancy 53
351 ACR011 Acromesomelic Dysplasia, Maroteaux Type 53
352 c OST163 Osteopetrosis, Autosomal Recessive 3 52
353 c WRD033 Waardenburg Syndrome, Type 2e 52
354 NNT012 Neonatal Jaundice 52
355 RGH009 Right Atrial Isomerism 52
356 P TRT010 Teratoma 52
357 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
358 P MYT002 Myotonic Dystrophy 52
359 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
360 P VSC013 Visceral Heterotaxy 52
361 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 52
362 P OMP004 Omphalocele 52
363 P PSD015 Pseudohypoparathyroidism 51
364 PRR016 Pierre Robin Syndrome 51
365 CCH002 Coach Syndrome 51
366 PLC007 Placental Abruption 51
367 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 51
368 c BRD012 Bardet-Biedl Syndrome 11 51
369 c CLR131 Ciliary Dyskinesia, Primary, 1 51
370 EBS001 Ebstein Anomaly 51
371 c AXN009 Axenfeld-Rieger Syndrome, Type 1 51
372 c SPN293 Spinocerebellar Ataxia 12 51
373 P GND004 Gonadal Dysgenesis 51
374 FRY006 Fryns Microphthalmia Syndrome 51
375 P VNB005 Van Buchem Disease 50
376 c PRX059 Peroxisome Biogenesis Disorder 1a 50
377 VTR016 Vater/vacterl Association 50
378 P BRC006 Brachydactyly 50
379 DBL002 Double Outlet Right Ventricle 50
380 DYG001 Dyggve-Melchior-Clausen Disease 50
381 P WLL002 Weill-Marchesani Syndrome 50
382 HNN001 Hennekam Syndrome 50
383 c CCK007 Cockayne Syndrome B 50
384 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
385 c PST041 Posterior Urethral Valves 50
386 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
387 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
388 CTY001 Cat Eye Syndrome 50
389 RST011 Restrictive Dermopathy, Lethal 50
390 HYP347 Hypotonia-Cystinuria Syndrome 50
391 c BRC109 Brachydactyly, Type E1 50
392 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
393 CHR101 Char Syndrome 50
394 c RNG023 Ring Chromosome 7 50
395 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 49
396 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 49
397 P CLS054 Classic Ehlers-Danlos Syndrome 49
398 P PRX021 Proximal Symphalangism 49
399 c ACH041 Achondrogenesis, Type Ii 49
400 PHL006 Phelan-Mcdermid Syndrome 49
401 P NLX004 Neu-Laxova Syndrome 1 49
402 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
403 c AXN010 Axenfeld-Rieger Syndrome, Type 3 49
404 P ART018 Aortic Valve Insufficiency 49
405 P CRN074 Coronary Artery Aneurysm 49
406 CTS011 Cutis Marmorata Telangiectatica Congenita 49
407 c WRD032 Waardenburg Syndrome, Type 2a 48
408 P EPT020 Epithelioid Hemangioendothelioma 48
409 c BRD044 Bardet-Biedl Syndrome 17 48
410 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
411 NVS001 Neovascular Glaucoma 48
412 TRC062 Tricuspid Atresia 48
413 NNC002 Nance-Horan Syndrome 48
414 P ART084 Arteriovenous Fistula 48
415 PLM041 Pulmonary Valve Stenosis 48
416 ACR058 Acrofacial Dysostosis 1, Nager Type 48
417 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 48
418 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
419 c SPN312 Spinocerebellar Ataxia 14 48
420 JHN001 Johanson-Blizzard Syndrome 48
421 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 48
422 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 47
423 MCR165 Microphthalmia with Limb Anomalies 47
424 P NNT009 Neonatal Diabetes Mellitus 47
425 c SCK009 Seckel Syndrome 1 47
426 c 46X001 46 Xy Gonadal Dysgenesis 47
427 c ACH042 Achondrogenesis, Type Ib 47
428 MLT134 Multiple Pterygium Syndrome, Lethal Type 47
429 PLC001 Placenta Accreta 47
430 HYP231 Hypothalamic Hamartomas 47
431 P SYN075 Syngnathia 47
432 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 47
433 c MLG081 Malignant Teratoma 47
434 c BRD032 Bardet-Biedl Syndrome 14 47
435 c OPT051 Opitz Gbbb Syndrome, Type I 47
436 P MRD002 Marden-Walker Syndrome 47
437 P FNG006 Feingold Syndrome 1 46
438 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 46
439 c BRC079 Brachydactyly, Type A2 46
440 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 46
441 c FNC028 Fanconi Anemia, Complementation Group L 46
442 CHR594 Chromosome 3q29 Deletion Syndrome 46
443 CNG069 Congenital Cytomegalovirus 46
444 c SPN100 Spinocerebellar Ataxia 27 46
445 c USH035 Usher Syndrome Type 2 46
446 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
447 MYP136 Myopathy, Centronuclear, X-Linked 46
448 c WRD020 Waardenburg Syndrome, Type 4a 46
449 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 46
450 MCR037 Macroglossia 46
451 CHN065 Choanal Atresia, Posterior 46
452 PLY012 Polyhydramnios 46
453 CRD002 Cri-Du-Chat Syndrome 46
454 HMH004 Hemihyperplasia, Isolated 46
455 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 46
456 c WRD019 Waardenburg Syndrome, Type 4b 46
457 P CRN276 Corneal Endothelial Dystrophy 46
458 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 46
459 KPS002 Kaposiform Hemangioendothelioma 46
460 c USH021 Usher Syndrome, Type Iid 46
461 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
462 KBG001 Kbg Syndrome 46
463 P DNR001 Duane Retraction Syndrome 46
464 CHR492 Chromosome 13q14 Deletion Syndrome 45
465 P MCL001 Mucolipidosis 45
466 c NNN013 Noonan Syndrome 6 45
467 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 45
468 c CRN243 Carney Complex, Type 1 45
469 c BRC081 Brachydactyly, Type C 45
470 MCR173 Microform Holoprosencephaly 45
471 c ACH033 Achondrogenesis, Type Ia 45
472 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 45
473 c FNC029 Fanconi Anemia, Complementation Group I 45
474 P RDL002 Radioulnar Synostosis 45
475 c BRD020 Bardet-Biedl Syndrome 8 45
476 GLC106 Glucocorticoid Resistance, Generalized 45
477 P MSC022 Mosaic Variegated Aneuploidy Syndrome 45
478 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
479 c PRM022 Primary Syphilis 45
480 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 45
481 OCL033 Oculocerebral Syndrome with Hypopigmentation 45
482 c BRD033 Bardet-Biedl Syndrome 13 45
483 TKL001 Tukel Syndrome 45
484 MRG013 Mirage Syndrome 45
485 c BRC060 Brachydactyly, Type E2 45
486 c OPT050 Opitz Gbbb Syndrome, Type Ii 45
487 c LPD019 Lipodystrophy, Partial, Acquired 44
488 MLB001 Mulibrey Nanism 44
489 c SHR030 Short Qt Syndrome 44
490 c WRD031 Waardenburg Syndrome, Type 3 44
491 SHR098 Short-Rib Thoracic Dysplasia 12 44
492 P CHN044 Chondrodysplasia Punctata Syndrome 44
493 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 44
494 PLL008 Pallister-Killian Syndrome 44
495 c BRD011 Bardet-Biedl Syndrome 10 44
496 c BRT050 Bartter Syndrome, Type 2, Antenatal 44
497 ASP004 Asphyxia Neonatorum 44
498 c SPN103 Spinocerebellar Ataxia 31 44
499 MWT001 Mowat-Wilson Syndrome 44
500 c HYP543 Hypoplastic Left Heart Syndrome 1 44
501 c FNC057 Fanconi Anemia, Complementation Group U 44
502 P SYN012 Synpolydactyly 44
503 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 44
504 c SPN308 Spinocerebellar Ataxia 28 44
505 c BRD018 Bardet-Biedl Syndrome 6 44
506 c TRN032 Transient Neonatal Diabetes Mellitus 44
507 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
508 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
509 c JBR024 Joubert Syndrome 14 43
510 ANM001 Anemia of Prematurity 43
511 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
512 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
513 TRP014 Triploidy 43
514 c FNC025 Fanconi Anemia, Complementation Group J 43
515 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
516 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 43
517 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 43
518 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 43
519 P ORF002 Orofacial Cleft 43
520 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
521 P OCY003 Oocyte Maturation Defect 1 42
522 c NNN011 Noonan Syndrome 4 42
523 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 42
524 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 42
525 c SPN330 Spondylocostal Dysostosis 5 42
526 c MCL016 Mucolipidosis Iii Gamma 42
527 c MYS078 Myasthenic Syndrome, Congenital, 14 42
528 c BRC062 Brachydactyly, Type D 42
529 FBL002 Fibular Hypoplasia and Complex Brachydactyly 42
530 TTR011 Tetraploidy 42
531 c BRD048 Bardet-Biedl Syndrome 18 42
532 c SPL034 Split-Hand/foot Malformation 4 42
533 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 42
534 c EPP014 Epiphyseal Dysplasia, Multiple, 4 42
535 c FNC023 Fanconi Anemia, Complementation Group N 42
536 47X002 47,xyy 42
537 DBT090 Diabetes and Deafness, Maternally Inherited 42
538 HND004 Hand-Foot-Genital Syndrome 42
539 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
540 c BRD035 Bardet-Biedl Syndrome 15 42
541 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
542 MYP151 Myopathy, Congenital, Bailey-Bloch 42
543 HMF009 Hemifacial Hyperplasia 42
544 c JBR015 Joubert Syndrome 6 42
545 HYL004 Hyaline Fibromatosis Syndrome 42
546 c HLP024 Holoprosencephaly 2 42
547 CRR002 Currarino Syndrome 41
548 c RNG004 Ring Chromosome 1 41
549 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
550 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
551 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 41
552 c CTR130 Cataract 9, Multiple Types 41
553 c PRM212 Primary Microcephaly 41
554 c LRS002 Larsen-Like Syndrome 41
555 c HLP026 Holoprosencephaly 3 41
556 SPN331 Spondyloocular Syndrome 41
557 c RTS003 Ritscher-Schinzel Syndrome 1 41
558 BLR027 Blue Rubber Bleb Nevus 41
559 CHR211 Chromosome 18p Deletion Syndrome 41
560 MYH012 Myhre Syndrome 41
561 c CTR098 Cataract 1, Multiple Types 41
562 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
563 P ATL001 Atelosteogenesis 41
564 ISL121 Isolated Split Hand-Split Foot Malformation 41
565 c SCK015 Seckel Syndrome 2 41
566 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
567 SCR035 Sacral Agenesis with Vertebral Anomalies 41
568 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40
569 P MCR364 Macrodactyly 40
570 c HLP029 Holoprosencephaly 4 40
571 c GLC083 Glaucoma 3, Primary Infantile, B 40
572 PTC002 Potocki-Lupski Syndrome 40
573 c MCR263 Microphthalmia, Syndromic 1 40
574 c CNG033 Congenital Syphilis 40
575 CHR382 Chromosome 18q Deletion Syndrome 40
576 P PRT042 Parietal Foramina 40
577 GNT031 Genitopatellar Syndrome 40
578 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 40
579 P ACH011 Achondrogenesis 40
580 LRN006 Laurin-Sandrow Syndrome 40
581 P SPL061 Split Hand-Foot Malformation 40
582 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 40
583 c OTP007 Otopalatodigital Syndrome, Type Ii 40
584 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
585 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
586 c GLL038 Galloway-Mowat Syndrome 1 40
587 P CRC039 Coarctation of Aorta 40
588 SCR020 Sacral Defect with Anterior Meningocele 40
589 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 40
590 c BRD017 Bardet-Biedl Syndrome 5 39
591 BRB006 Barber-Say Syndrome 39
592 c HYD064 Hydrocephalus, Congenital, 1 39
593 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 39
594 c NNN021 Noonan Syndrome 8 39
595 HRL004 Hurler-Scheie Syndrome 39
596 P LSS024 Lissencephaly with Cerebellar Hypoplasia 39
597 c NNN024 Noonan Syndrome 9 39
598 PLC009 Placenta Praevia 39
599 c ANT071 Anterior Segment Dysgenesis 4 39
600 DXT002 Dextrocardia with Situs Inversus 39
601 c VNM003 Van Maldergem Syndrome 1 39
602 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 39
603 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 39
604 TRP009 Triple X Syndrome 39
605 c 46X002 46 Xx Gonadal Dysgenesis 39
606 FNT005 Fontaine Progeroid Syndrome 39
607 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
608 GLS018 Glass Syndrome 39
609 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 38
610 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
611 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 38
612 SLF014 Sulfite Oxidase Deficiency, Isolated 38
613 c MLG145 Malignant Epithelioid Hemangioendothelioma 38
614 CHR386 Chromosome 6pter-P24 Deletion Syndrome 38
615 c SPL024 Split-Hand/foot Malformation 3 38
616 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
617 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
618 c MCP051 Mucopolysaccharidosis, Type Ix 38
619 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 38
620 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 38
621 CHR667 Chromosome 3pter-P25 Deletion Syndrome 38
622 P PRD037 Periodontal Ehlers-Danlos Syndrome 38
623 c DYS119 Dystonia 9 38
624 SML028 Semilobar Holoprosencephaly 38
625 ASC009 Ascites, Chylous 38
626 P CMM008 Communicating Hydrocephalus 38
627 P BRN042 Branchiootic Syndrome 38
628 P KLN006 Koolen-De Vries Syndrome 38
629 c FNC048 Fanconi Anemia, Complementation Group O 38
630 P MNN007 Meningocele 38
631 c FNC062 Fanconi Anemia, Complementation Group S 38
632 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
633 c SCP001 Sc Phocomelia Syndrome 38
634 c LSS006 Lissencephaly 2 38
635 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38
636 ALB014 Alobar Holoprosencephaly 37
637 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 37
638 c OST126 Osteopetrosis, Autosomal Recessive 1 37
639 P ANT061 Antenatal Bartter Syndrome 37
640 c MNS014 Monosomy 22 37
641 CHR010 Chorioangioma 37
642 c SPL070 Split-Hand/foot Malformation 2 37
643 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 37
644 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
645 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
646 DPH019 Diaphanospondylodysostosis 37
647 c NNN025 Noonan Syndrome 10 37
648 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
649 c PRM032 Primary Congenital Glaucoma 37
650 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
651 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 37
652 c RBN020 Robinow Syndrome, Autosomal Dominant 3 37
653 c USH041 Usher Syndrome, Type if 37
654 P JVN008 Juvenile Glaucoma 37
655 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 37
656 THR017 Thoracoabdominal Syndrome 37
657 c RNG008 Ring Chromosome 13 37
658 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
659 MND025 Mandibulofacial Dysostosis with Alopecia 37
660 c MCR124 Microphthalmia, Isolated 1 37
661 CRY032 Carey-Fineman-Ziter Syndrome 37
662 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
663 OHD005 Ohdo Syndrome, Sbbys Variant 37
664 c SPL033 Split-Hand/foot Malformation 6 37
665 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 37
666 DGT009 Digitotalar Dysmorphism 37
667 CHR518 Chromosome 9p Deletion Syndrome 37
668 c CNG513 Congenital Ptosis 37
669 P CRB154 Cerebrocostomandibular Syndrome 37
670 c BRD045 Bardet-Biedl Syndrome 19 36
671 EMN001 Emanuel Syndrome 36
672 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 36
673 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
674 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 36
675 SPN012 Spindle Cell Hemangioma 36
676 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 36
677 TRS002 Tarsal-Carpal Coalition Syndrome 36
678 LBR025 Lobar Holoprosencephaly 36
679 RVL002 Ruvalcaba Syndrome 36
680 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 36
681 CHR387 Chromosome Xp21 Deletion Syndrome 36
682 LMB008 Limb-Mammary Syndrome 36
683 BNB002 Bainbridge-Ropers Syndrome 36
684 c USH042 Usher Syndrome, Type Ig 36
685 P GLP001 Geleophysic Dysplasia 36
686 c WRD024 Waardenburg Syndrome, Type 4c 36
687 EPP011 Epiphyseal Chondrodysplasia, Miura Type 36
688 c ZMM002 Zimmermann-Laband Syndrome 1 36
689 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
690 c CNG379 Congenital Disorder of Glycosylation, Type It 36
691 P DXT004 Dextro-Looped Transposition of the Great Arteries 36
692 c ATS076 Autosomal Recessive Stickler Syndrome 36
693 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 36
694 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36
695 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 36
696 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
697 c FNC047 Fanconi Anemia, Complementation Group Q 35
698 ANG062 Angioosteohypertrophic Syndrome 35
699 c EPP015 Epiphyseal Dysplasia, Multiple, 3 35
700 c BRD047 Bardet-Biedl Syndrome 16 35
701 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
702 WRS002 Warsaw Breakage Syndrome 35
703 49X002 49,xxxxy Syndrome 35
704 MCR103 Microtia 35
705 c NNN020 Noonan Syndrome 7 35
706 GPS001 Gapo Syndrome 35
707 OGD001 Ogden Syndrome 35
708 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 35
709 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
710 KGM001 Kagami-Ogata Syndrome 35
711 TKN001 Takenouchi-Kosaki Syndrome 35
712 c FNC058 Fanconi Anemia, Complementation Group R 35
713 CHR501 Chromosome 17q12 Deletion Syndrome 35
714 c SPN299 Spinocerebellar Ataxia 20 35
715 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
716 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 35
717 PST063 Postsynaptic Congenital Myasthenic Syndromes 35
718 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 35
719 c JBR025 Joubert Syndrome 17 35
720 c JBR041 Joubert Syndrome 3 34
721 EMP011 Emphysema, Congenital Lobar 34
722 P OMD003 Omodysplasia 34
723 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
724 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 34
725 TRG019 Trigonocephaly with Short Stature and Developmental Delay 34
726 c FNC052 Fanconi Anemia, Complementation Group T 34
727 c SPN247 Spinocerebellar Ataxia Type 19/22 34
728 SCH071 Schaaf-Yang Syndrome 34
729 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
730 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 34
731 CHR659 Chromosome 22q11.2 Duplication Syndrome 34
732 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 34
733 CNS013 Constricting Bands, Congenital 34
734 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
735 P MXD016 Mixed Gonadal Dysgenesis 34
736 P SYN059 Syndactyly, Type V 34
737 MSC020 Mosaic Trisomy 8 34
738 PLT007 Palatopharyngeal Incompetence 34
739 c SPL025 Split-Hand/foot Malformation 5 34
740 INT276 Interatrial Communication 34
741 PLM151 Pulmonary Arteriovenous Fistulas 34
742 c OVR075 Ovarian Dysgenesis 1 34
743 JBR005 Joubert Syndrome with Ocular Anomalies 34
744 TMP012 Temple Syndrome 34
745 TRP006 Tarp Syndrome 34
746 c HLP028 Holoprosencephaly 5 34
747 c SYN061 Syndactyly, Type Iv 34
748 c RNG020 Ring Chromosome 4 33
749 c WRD010 Waardenburg Syndrome Type 4 33
750 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
751 48X003 48,xxyy Syndrome 33
752 PRT049 Partial Deletion of Y 33
753 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 33
754 c FNC056 Fanconi Anemia, Complementation Group V 33
755 NNT004 Neonatal Respiratory Failure 33
756 TRM011 Terminal Osseous Dysplasia 33
757 c DMN021 Diamond-Blackfan Anemia 6 33
758 c ICH023 Ichthyosis, Acquired 33
759 c ORT011 Orthostatic Hypotension 1 33
760 OSC001 Oeis Complex 33
761 c CRN109 Cranioectodermal Dysplasia 2 33
762 P RTS001 Ritscher-Schinzel Syndrome 33
763 c BRD019 Bardet-Biedl Syndrome 7 33
764 c HTR021 Heterotaxy, Visceral, 5, Autosomal 33
765 c KLF004 Kleefstra Syndrome 1 33
766 CHR377 Chromosome 10q26 Deletion Syndrome 33
767 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 33
768 BRC004 Brachydactyly-Syndactyly Syndrome 33
769 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 33
770 c SPN099 Spinocerebellar Ataxia 26 33
771 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 33
772 c PRX055 Peroxisome Biogenesis Disorder 11a 33
773 c GLP003 Geleophysic Dysplasia 1 33
774 PLY036 Polyembryoma 33
775 c BRT052 Bartter Syndrome, Type 1, Antenatal 32
776 ANR010 Aneurysm of Sinus of Valsalva 32
777 c JBR012 Joubert Syndrome 5 32
778 SPT016 Septopreoptic Holoprosencephaly 32
779 CHR582 Chromosome 3q29 Duplication Syndrome 32
780 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 32
781 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
782 NNT005 Neonatal Candidiasis 32
783 MCR096 Macrocephaly/autism Syndrome 32
784 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
785 OLV004 Oliver-Mcfarlane Syndrome 32
786 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
787 DST008 Diastematomyelia 32
788 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 32
789 P HYP700 Hypomyelinating Leukodystrophy 32
790 c RBN008 Rubinstein-Taybi Syndrome 2 32
791 c SYN084 Synpolydactyly 1 32
792 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
793 c WLL036 Weill-Marchesani Syndrome 1 32
794 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 32
795 OCL039 Oculoectodermal Syndrome 32
796 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 32
797 c JBR022 Joubert Syndrome 20 32
798 TRC035 Tracheal Agenesis 32
799 P PLY148 Polydactyly, Preaxial Ii 32
800 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
801 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
802 c PRX060 Peroxisome Biogenesis Disorder 5a 32
803 MLR023 Melorheostosis, Isolated 32
804 c MTR051 Maternal Uniparental Disomy of Chromosome 1 32
805 c DYS039 Dyskeratosis Congenita Autosomal Dominant 31
806 c MCR329 Microcephaly, Autosomal Dominant 31
807 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 31
808 PRT048 Partial Atrioventricular Canal 31
809 c GLP004 Geleophysic Dysplasia 2 31
810 PRG023 Progeroid Short Stature with Pigmented Nevi 31
811 P CRN249 Cornea Plana 31
812 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
813 LMB010 Lambert Syndrome 31
814 c RNG018 Ring Chromosome 22 31
815 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
816 TTR012 Tetrasomy 9p 31
817 c CNG188 Congenital Disorder of Glycosylation, Type if 31
818 OCL063 Oculopharyngodistal Myopathy 31
819 c CCK002 Cockayne Syndrome Type I 31
820 P MTP005 Metaphyseal Anadysplasia 31
821 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
822 MTP028 Metaphyseal Dysplasia, Spahr Type 31
823 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 31
824 ISL062 Isolated Plagiocephaly 31
825 ALG027 Al-Gazali-Bakalinova Syndrome 31
826 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 31
827 P ACR106 Acrocephalopolysyndactyly Type Iii 31
828 ATY016 Atypical Werner Syndrome 31
829 MCR099 Microlissencephaly 31
830 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 31
831 c ACQ027 Acquired Cutis Laxa 31
832 LRY022 Laryngoonychocutaneous Syndrome 31
833 c DYS059 Dystonia 16 31
834 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
835 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
836 ALZ030 Alazami Syndrome 31
837 c SCK010 Seckel Syndrome 4 31
838 P DSB002 Desbuquois Dysplasia 30
839 HMF010 Hemifacial Microsomia with Radial Defects 30
840 NRN022 Neurenteric Cyst 30
841 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 30
842 c PRX056 Peroxisome Biogenesis Disorder 11b 30
843 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 30
844 c SCK011 Seckel Syndrome 5 30
845 c CTR095 Cataract 8, Multiple Types 30
846 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
847 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
848 P VNM004 Van Maldergem Syndrome 30
849 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 30
850 c SPN098 Spinocerebellar Ataxia 25 30
851 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 30
852 CYN002 Cyanosis, Transient Neonatal 30
853 ISL109 Isolated Cleft Lip 30
854 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 30
855 c USH031 Usher Syndrome, Type Ij 30
856 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 30
857 c STC013 Stickler Syndrome, Type Ii 30
858 MSC021 Mosaic Trisomy 9 30
859 CMP035 Complete Atrioventricular Canal 30
860 c MYS067 Myasthenic Syndrome, Congenital, 22 30
861 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
862 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 30
863 c DSB005 Desbuquois Dysplasia 2 30
864 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 30
865 c OST120 Osteopetrosis, Autosomal Recessive 5 30
866 c RNG029 Ring Chromosome 14 Syndrome 30
867 c WLL037 Weill-Marchesani Syndrome 2 30
868 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
869 c DYS146 Dystonia 24 29
870 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 29
871 WRF003 Warfarin Syndrome 29
872 49X001 49, Xxxxx 29
873 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 29
874 CNG134 Congenitally Corrected Transposition of the Great Arteries 29
875 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
876 MXL016 Maxillonasal Dysplasia, Binder Type 29
877 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
878 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 29
879 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 29
880 c DYS040 Dyskeratosis Congenita Autosomal Recessive 29
881 UNV002 Univentricular Heart 29
882 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 29
883 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 29
884 c JBR014 Joubert Syndrome 9 29
885 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29
886 ISL096 Isolated Klippel-Feil Syndrome 29
887 c PRX063 Peroxisome Biogenesis Disorder 2a 29
888 STL007 Steel Syndrome 29
889 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
890 CRN264 Craniosynostosis with Fibular Aplasia 29
891 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
892 MCR183 Microcephaly-Capillary Malformation Syndrome 29
893 PSD046 Pseudotrisomy 13 Syndrome 29
894 c PRX050 Peroxisome Biogenesis Disorder 9b 29
895 HYP682 Hypertelorism, Teebi Type 29
896 PLM013 Pulmonary Immaturity 29
897 CDL005 Caudal Duplication Anomaly 29
898 c PRX048 Peroxisome Biogenesis Disorder 10a 29
899 INN003 Iniencephaly 29
900 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
901 PRP093 Pierpont Syndrome 29
902 c USH030 Usher Syndrome, Type Ik 29
903 c RNG017 Ring Chromosome 21 29
904 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
905 TTT001 Tatton-Brown-Rahman Syndrome 29
906 CLV004 Calvarial Hyperostosis 29
907 c PLY149 Polydactyly, Preaxial Iv 29
908 c OMD001 Omodysplasia 1 29
909 BRN133 Bronchomalacia 29
910 c PLY136 Polydactyly, Preaxial I 29
911 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 29
912 P SCL047 Sclerocornea 29
913 c ERL012 Early-Onset Glaucoma 29
914 CRB147 Cerebellofaciodental Syndrome 29
915 c PRX051 Peroxisome Biogenesis Disorder 6a 29
916 c RNG022 Ring Chromosome 6 29
917 P OVR076 Ovarian Dysgenesis 2 29
918 KLB005 Kleeblattschaedel 28
919 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 28
920 P TRS029 Trisomy 1q 28
921 INF021 Infant Gynecomastia 28
922 c MCR252 Microphthalmia, Syndromic 5 28
923 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 28
924 WLD004 Wildervanck Syndrome 28
925 c PRX053 Peroxisome Biogenesis Disorder 14b 28
926 CRL006 Caroli Disease, Isolated 28
927 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 28
928 UVL009 Uvula, Bifid 28
929 c GLL040 Galloway-Mowat Syndrome 3 28
930 MSM016 Mesomelic Dysplasia, Kantaputra Type 28
931 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
932 c STS007 Sotos Syndrome 2 28
933 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 28
934 c PRX054 Peroxisome Biogenesis Disorder 12a 28
935 c FRN033 Frontonasal Dysplasia 2 28
936 CBB002 Cobb Syndrome 28
937 FRN022 Frontofacionasal Dysplasia 28
938 c 46X049 46,xy Sex Reversal 2 28
939 c DMN017 Diamond-Blackfan Anemia 10 28
940 OCL040 Oculomaxillofacial Dysostosis 28
941 c RNG015 Ring Chromosome 2 28
942 TTR014 Tetrasomy 18p 28
943 c RNG007 Ring Chromosome 12 28
944 c SPN286 Spinocerebellar Ataxia 40 28
945 CRD017 Cardiac Valvular Dysplasia, X-Linked 28
946 WTT002 Witteveen-Kolk Syndrome 28
947 VND005 Van Den Ende-Gupta Syndrome 28
948 CHR225 Chromosome 1q21.1 Duplication Syndrome 28
949 RHM015 Rhombencephalosynapsis 28
950 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
951 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
952 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 28
953 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 28
954 c ANT083 Anterior Segment Dysgenesis 7 28
955 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 28
956 c SYM022 Symphalangism, Proximal, 1a 28
957 c BRD021 Bardet-Biedl Syndrome 9 28
958 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
959 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 28
960 CLF028 Cleft Soft Palate 28
961 HYP679 Hypoglossia-Hypodactylia 27
962 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 27
963 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 27
964 c LYS020 Loeys-Dietz Syndrome 5 27
965 c BRN128 Branchiootic Syndrome 3 27
966 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
967 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 27
968 TRC007 Tricuspid Valve Prolapse 27
969 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 27
970 ATY022 Atypical Coarctation of Aorta 27
971 HRY005 Hairy Elbows 27
972 c RNG010 Ring Chromosome 15 27
973 c MCR245 Microphthalmia, Syndromic 8 27
974 c OTF003 Otofaciocervical Syndrome 2 27
975 TBL008 Tibial Hemimelia 27
976 ACR099 Acrofacial Dysostosis, Catania Type 27
977 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
978 c JVN034 Juvenile Polyposis of Infancy 27
979 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 27
980 CHR265 Chromosome 8p Duplication 27
981 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 27
982 c BRD050 Bardet-Biedl Syndrome 21 27
983 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 27
984 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 27
985 c JBR016 Joubert Syndrome 10 27
986 TTR013 Tetrasomy X 27
987 DGT002 Digital Clubbing, Isolated Congenital 27
988 c JBR031 Joubert Syndrome 21 27
989 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 27
990 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 27
991 PLM058 Pulmonary Atresia with Intact Ventricular Septum 27
992 PLY110 Polymicrogyria, Bilateral Temporooccipital 27
993 RCM003 Recombinant Chromosome 8 Syndrome 27
994 c KBK003 Kabuki Syndrome 2 27
995 CHR588 Chromosome 8q22.1 Duplication Syndrome 27
996 c HLP025 Holoprosencephaly 9 27
997 HYP180 Hypertrichosis Lanuginosa Congenita 27
998 c CRP022 Carpenter Syndrome 2 27
999 DPH012 Diphallia 27
1000 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
1001 c ORF027 Orofacial Cleft 11 27
1002 c DYS145 Dystonia 23 27
1003 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
1004 LMB069 Lamb-Shaffer Syndrome 27
1005 CHR229 Chromosome 20p Duplication 27
1006 CHR399 Chromosome 4q21 Deletion Syndrome 27
1007 c ORF048 Orofacial Cleft 1 27
1008 GBR007 Gabriele-De Vries Syndrome 27
1009 ISL011 Isolated Aniridia 27
1010 BRN055 Bronchogenic Cyst 27
1011 c PRX065 Peroxisome Biogenesis Disorder 3a 27
1012 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 27
1013 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 27
1014 SLF015 Self-Improving Collodion Baby 27
1015 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
1016 c MRG010 Meier-Gorlin Syndrome 3 26
1017 c PRX043 Peroxisome Biogenesis Disorder 6b 26
1018 CHR209 Chromosome 17p Duplication 26
1019 CHN019 Chand Syndrome 26
1020 c MYS076 Myasthenic Syndrome, Congenital, 8 26
1021 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 26
1022 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 26
1023 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 26
1024 c PRR026 Perrault Syndrome 5 26
1025 MCR067 Microcoria, Congenital 26
1026 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
1027 RGH006 Right Aortic Arch 26
1028 RMR001 Ramer Ladda Syndrome 26
1029 c JBR013 Joubert Syndrome 8 26
1030 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 26
1031 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
1032 c JBR018 Joubert Syndrome 4 26
1033 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
1034 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 26
1035 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
1036 c MCR212 Microphthalmia, Syndromic 12 26
1037 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 26
1038 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
1039 MSC016 Mosaic Trisomy 14 26
1040 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 26
1041 c TRS012 Trisomy 22 26
1042 MCR302 Macrostomia, Isolated 26
1043 c NML022 Nemaline Myopathy 10 26
1044 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 26
1045 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 26
1046 P ART034 Aortopulmonary Window 26
1047 ASS004 Aase-Smith Syndrome I 26
1048 c MRG015 Meier-Gorlin Syndrome 7 26
1049 c DMN022 Diamond-Blackfan Anemia 9 26
1050 c RNG016 Ring Chromosome 20 26
1051 HYP648 Hypertension and Brachydactyly Syndrome 26
1052 CHR270 Chromosome 9p Duplication 26
1053 WLL012 Williams-Beuren Region Duplication Syndrome 26
1054 c CLR114 Ciliary Dyskinesia, Primary, 30 26
1055 c BSL030 Basal Encephalocele 26
1056 c CLR090 Ciliary Dyskinesia, Primary, 22 26
1057 CHR523 Chromosome 15q11.2 Deletion Syndrome 26
1058 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
1059 c PRX046 Peroxisome Biogenesis Disorder 7a 26
1060 OCC011 Occipital Encephalocele 26
1061 c PRT060 Parietal Foramina 2 26
1062 c CRN135 Cornelia De Lange Syndrome 3 26
1063 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 26
1064 c CCK004 Cockayne Syndrome Type Iii 25
1065 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 25
1066 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 25
1067 c VNM002 Van Maldergem Syndrome 2 25
1068 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
1069 CHR159 Charlie M Syndrome 25
1070 c MYS056 Myasthenic Syndrome, Congenital, 17 25
1071 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
1072 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 25
1073 c PRX057 Peroxisome Biogenesis Disorder 4a 25
1074 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 25
1075 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 25
1076 RPD005 Rapidly Involuting Congenital Hemangioma 25
1077 c MCR137 Microphthalmia, Isolated 2 25
1078 c BRC099 Brachydactyly, Type A4 25
1079 c WLL040 Weill-Marchesani Syndrome 4 25
1080 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 25
1081 P NNT006 Neonatal Myasthenia Gravis 25
1082 c LSS009 Lissencephaly 3 25
1083 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 25
1084 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 25
1085 TTR023 Tetraamelia-Multiple Malformations Syndrome 25
1086 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 25
1087 PRT131 Partial Trisomy Distal 4q 25
1088 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 25
1089 c DMN019 Diamond-Blackfan Anemia 4 25
1090 c PTT030 Pitt-Hopkins-Like Syndrome 2 25
1091 c ADL057 Adult Teratoma 25
1092 c SPN418 Spinocerebellar Ataxia 44 25
1093 c CRN215 Cornelia De Lange Syndrome 4 25
1094 CHR266 Chromosome 8p23.1 Deletion 25
1095 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 25
1096 P SYN064 Syndromic X-Linked Intellectual Disability 25
1097 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 25
1098 BLP041 Blepharochalasis and Double Lip 25
1099 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1100 PGD001 Pagod Syndrome 25
1101 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
1102 c HTR009 Heterotaxy, Visceral, 2, Autosomal 25
1103 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 25
1104 c CLR066 Ciliary Dyskinesia, Primary, 2 25
1105 c MYS064 Myasthenic Syndrome, Congenital, 16 25
1106 c MLT060 Multiple Synostoses Syndrome 2 25
1107 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
1108 c CRN209 Cornelia De Lange Syndrome 5 25
1109 c PRX058 Peroxisome Biogenesis Disorder 4b 25
1110 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 25
1111 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 25
1112 NNN007 Non-Involuting Congenital Hemangioma 25
1113 c FRN032 Frontonasal Dysplasia 3 25
1114 c FRN037 Frontal Encephalocele 25
1115 ISL089 Isolated Scaphocephaly 25
1116 c PRX047 Peroxisome Biogenesis Disorder 5b 25
1117 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 25
1118 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
1119 c WLL038 Weill-Marchesani Syndrome 3 25
1120 c RNG005 Ring Chromosome 10 25
1121 CLF049 Cleft Lip and Alveolus 25
1122 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
1123 TTR027 Tetrasomy 15q26 25
1124 PNL023 Penile Agenesis 25
1125 c CTR116 Cataract 15, Multiple Types 25
1126 CRL001 Cerulean Cataract 25
1127 P PLM064 Pulmonary Sequestration 25
1128 HRD037 Hardikar Syndrome 25
1129 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 25
1130 c JBR030 Joubert Syndrome 22 25
1131 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 25
1132 c JBR037 Joubert Syndrome 26 25
1133 CHR268 Chromosome 8q Duplication 25
1134 c ACR103 Acrofrontofacionasal Dysostosis 1 25
1135 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
1136 c SPN421 Spinocerebellar Ataxia 47 25
1137 c RNG024 Ring Chromosome 8 25
1138 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 24
1139 SKR001 Skraban-Deardorff Syndrome 24
1140 c 46X030 46,xy Sex Reversal 9 24
1141 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 24
1142 c SYN060 Syndactyly, Type Iii 24
1143 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24
1144 c PSD047 Pseudo-Turner Syndrome 24
1145 c HLP027 Holoprosencephaly 7 24
1146 c BRD051 Bardet-Biedl Syndrome 20 24
1147 DFF022 Diffuse Neonatal Hemangiomatosis 24
1148 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 24
1149 XQ1001 Xq12-Q13.3 Duplication Syndrome 24
1150 c SPN102 Spinocerebellar Ataxia 30 24
1151 c DMN040 Diamond-Blackfan Anemia 16 24
1152 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 24
1153 CHR524 Chromosome 16p13.3 Duplication Syndrome 24
1154 c 46X017 46,xy Sex Reversal 6 24
1155 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 24
1156 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 24
1157 c SHR032 Short Qt Syndrome 2 24
1158 UTR054 Uterine Hypoplasia 24
1159 P KNN002 Kenny-Caffey Syndrome 24
1160 c MCR228 Microphthalmia, Syndromic 13 24
1161 PLY135 Polydactyly, Postaxial, with Progressive Myopia 24
1162 ISL087 Isolated Oxycephaly 24
1163 TTR019 Tetrasomy 5p 24
1164 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 24
1165 CHR366 Chromosome 5p13 Duplication Syndrome 24
1166 P ACR093 Acrofrontofacionasal Dysostosis 24
1167 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 24
1168 c DYS151 Dystonia 25 24
1169 c 46X058 46,xy Sex Reversal 10 24
1170 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 24
1171 c ACR105 Acrofrontofacionasal Dysostosis 2 24
1172 P SPN237 Spina Bifida Aperta 24
1173 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 24
1174 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
1175 CRN266 Craniofacial Dyssynostosis with Short Stature 24
1176 c VNT028 Ventricular Septal Defect 1 24
1177 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 24
1178 c CFF011 Coffin-Siris Syndrome 6 24
1179 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
1180 PHK008 Phakomatosis Cesioflammea 24
1181 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 24
1182 ART030 Aortic Arch Interruption 24
1183 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 24
1184 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 24
1185 c PRX052 Peroxisome Biogenesis Disorder 13a 24
1186 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 24
1187 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
1188 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 24
1189 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 24
1190 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 24
1191 c ANT085 Anterior Segment Dysgenesis 5 24
1192 c RNG013 Ring Chromosome 18 24
1193 ISL061 Isolated Brachycephaly 24
1194 c DMN024 Diamond-Blackfan Anemia 7 24
1195 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 24
1196 c SCK029 Seckel Syndrome 7 24
1197 c CNG514 Congenital Radioulnar Synostosis 24
1198 c EHL065 Ehlers-Danlos Syndrome, Type V 24
1199 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 24
1200 c SHR031 Short Qt Syndrome 1 24
1201 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 24
1202 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
1203 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 24
1204 c SPN323 Spinocerebellar Ataxia 41 24
1205 c FNG009 Feingold Syndrome 2 24
1206 c HLP016 Holoprosencephaly 11 24
1207 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 24
1208 CHR248 Chromosome 4p Duplication 24
1209 16Q001 16q24.3 Microdeletion Syndrome 24
1210 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 24
1211 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 24
1212 c CLR068 Ciliary Dyskinesia, Primary, 5 24
1213 CRT060 Cor Triatriatum Sinister 24
1214 CHR379 Chromosome 15q26-Qter Deletion Syndrome 24
1215 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 24
1216 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 24
1217 ISD002 Isodicentric Chromosome 15 Syndrome 24
1218 MCR310 Microgastria-Limb Reduction Defects Association 24
1219 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 24
1220 PRT101 Poretti-Boltshauser Syndrome 24
1221 NVR001 Nievergelt Syndrome 24
1222 PYR025 Pyruvate Dehydrogenase E2 Deficiency 24
1223 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 24
1224 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
1225 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 24
1226 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 24
1227 c LTH032 Lethal Congenital Contracture Syndrome 7 23
1228 P TRC031 Trichorhinophalangeal Syndrome 23
1229 PSD030 Pseudodiastrophic Dysplasia 23
1230 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 23
1231 TTR021 Tetrasomy 21 23
1232 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 23
1233 DPR014 Diprosopus 23
1234 PRT043 Parietal Foramina with Cleidocranial Dysplasia 23
1235 LLS001 Lelis Syndrome 23
1236 OCL057 Oculotrichodysplasia 23
1237 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
1238 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 23
1239 c CTR124 Cataract 10, Multiple Types 23
1240 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 23
1241 PRP090 Peripheral Dysostosis 23
1242 c MCR114 Microphthalmia, Isolated 3 23
1243 c CLR105 Ciliary Dyskinesia, Primary, 20 23
1244 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
1245 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23
1246 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
1247 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
1248 c DYS172 Dystonia 27 23
1249 c MRG011 Meier-Gorlin Syndrome 4 23
1250 DSN002 Desanto-Shinawi Syndrome 23
1251 c JBR039 Joubert Syndrome 28 23
1252 c CLR094 Ciliary Dyskinesia, Primary, 28 23
1253 P BLT016 Bilateral Polymicrogyria 23
1254 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 23
1255 c PRX062 Peroxisome Biogenesis Disorder 8b 23
1256 P ACR020 Acropectorovertebral Dysplasia 23
1257 CRS011 Criss-Cross Heart 23
1258 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 23
1259 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 23
1260 OCL030 Oculoauriculofrontonasal Syndrome 23
1261 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
1262 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
1263 CHR190 Chromosome 12p Duplication 23
1264 c MRG009 Meier-Gorlin Syndrome 2 23
1265 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 23
1266 c CFF006 Coffin-Siris Syndrome 5 23
1267 c CFF012 Coffin-Siris Syndrome 7 23
1268 SCH031 Scholte Syndrome 23
1269 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 23
1270 c FNC061 Fanconi Anemia, Complementation Group W 23
1271 FCL047 Facial Clefting, Oblique, 1 23
1272 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 23
1273 ADD006 Adducted Thumbs Syndrome 23
1274 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 23
1275 c SPN259 Spinocerebellar Ataxia 32 23
1276 c SCK037 Seckel Syndrome 9 23
1277 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23
1278 c MLT078 Multiple Synostoses Syndrome 3 23
1279 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 23
1280 NSD003 Nasodigitoacoustic Syndrome 23
1281 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 23
1282 c MNS008 Monosomy 21 23
1283 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 23
1284 c SCK038 Seckel Syndrome 10 23
1285 BRN129 Branchial Cleft Anomalies 23
1286 c WRD022 Waardenburg Syndrome, Type 2d 23
1287 c CLR095 Ciliary Dyskinesia, Primary, 19 23
1288 c LKD028 Leukodystrophy, Hypomyelinating, 15 23
1289 c ORF028 Orofacial Cleft 10 23
1290 c RNG019 Ring Chromosome 3 23
1291 AXL004 Axial Mesodermal Dysplasia Spectrum 23
1292 c WRD029 Waardenburg Syndrome, Type 2b 23
1293 c MRG014 Meier-Gorlin Syndrome 6 23
1294 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 23
1295 c DMN006 Diamond-Blackfan Anemia 3 23
1296 PLM059 Pulmonary Atresia with Ventricular Septal Defect 23
1297 c CTR105 Cataract 12, Multiple Types 23
1298 GNT043 Genitopalatocardiac Syndrome 23
1299 c JBR021 Joubert Syndrome 18 23
1300 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 23
1301 c DMN020 Diamond-Blackfan Anemia 8 23
1302 c CLR102 Ciliary Dyskinesia, Primary, 17 23
1303 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 23
1304 FNT003 Fountain Syndrome 23
1305 c MCR109 Microphthalmia, Isolated 4 23
1306 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 23
1307 c PRT063 Proteus-Like Syndrome 23
1308 c DMN005 Diamond-Blackfan Anemia 2 22
1309 c LKD027 Leukodystrophy, Hypomyelinating, 14 22
1310 FMR016 Femur-Fibula-Ulna Syndrome 22
1311 c PRR021 Perrault Syndrome 4 22
1312 c TWN010 Townes-Brocks Syndrome 2 22
1313 c DMN018 Diamond-Blackfan Anemia 5 22
1314 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 22
1315 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 22
1316 c DYS138 Dystonia 21 22
1317 c SPN419 Spinocerebellar Ataxia 45 22
1318 P PTR018 Paternal Uniparental Disomy of Chromosome 6 22
1319 c BRC080 Brachydactyly, Type A1, B 22
1320 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22
1321 ERY043 Euryblepharon 22
1322 c LTH030 Lethal Congenital Contracture Syndrome 8 22
1323 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 22
1324 c 46X056 46,xy Sex Reversal 5 22
1325 c BRC075 Brachydactyly, Type A1, C 22
1326 ACR107 Acrofacial Dysostosis, Palagonia Type 22
1327 48X002 48,xxxy Syndrome 22
1328 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 22
1329 c GLL041 Galloway-Mowat Syndrome 4 22
1330 c BRC108 Brachydactyly, Type A3 22
1331 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 22
1332 SYM024 Symphalangism, Distal 22
1333 P PHC014 Phocomelia 22
1334 c CLR106 Ciliary Dyskinesia, Primary, 26 22
1335 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 22
1336 ART037 Arthrogryposis and Ectodermal Dysplasia 22
1337 c CLR126 Ciliary Dyskinesia, Primary, 35 22
1338 CRT069 Cortical Malformations, Occipital 22
1339 TRC110 Tracheobronchial Stenosis, Congenital 22
1340 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 22
1341 c JBR047 Joubert Syndrome 35 22
1342 c BRN073 Branchiootic Syndrome 2 22
1343 c JBR040 Joubert Syndrome 30 22
1344 c MCR217 Microphthalmia, Syndromic 11 22
1345 c RTS002 Ritscher-Schinzel Syndrome 2 22
1346 c CRN280 Cornea Plana 2, Autosomal Recessive 22
1347 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 22
1348 UNL005 Unilateral Polymicrogyria 22
1349 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 22
1350 MSC089 Mosaic Monosomy X 22
1351 c TRC073 Treacher Collins Syndrome 2 22
1352 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 22
1353 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
1354 ACR101 Acrocraniofacial Dysostosis 22
1355 c CLR125 Ciliary Dyskinesia, Primary, 33 22
1356 c MYS077 Myasthenic Syndrome, Congenital, 15 22
1357 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 22
1358 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 22
1359 c CLR116 Ciliary Dyskinesia, Primary, 29 22
1360 c OVR107 Ovarian Dysgenesis 4 22
1361 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 22
1362 c MLG151 Malignant Hyperthermia 5 22
1363 CHR212 Chromosome 18p Duplication 22
1364 c GLL042 Galloway-Mowat Syndrome 5 22
1365 MLC004 Mulchandani-Bhoj-Conlin Syndrome 22
1366 c 46X059 46,xx Sex Reversal 4 22
1367 PNS015 Penoscrotal Transposition 22
1368 c CLR098 Ciliary Dyskinesia, Primary, 27 22
1369 c JBR043 Joubert Syndrome 32 22
1370 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 22
1371 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
1372 c EHL091 Ehlers-Danlos Syndrome Type 7a 22
1373 c MRG012 Meier-Gorlin Syndrome 5 22
1374 c DMN029 Diamond-Blackfan Anemia 11 22
1375 c TRC071 Treacher Collins Syndrome 3 22
1376 c CLR042 Ciliary Dyskinesia, Primary, 6 22
1377 8P2002 8p23.1 Duplication Syndrome 22
1378 c SPN107 Spinocerebellar Ataxia 9 22
1379 c VNT024 Ventricular Septal Defect 3 22
1380 c JBR028 Joubert Syndrome 13 22
1381 c SYN088 Synpolydactyly 2 22
1382 P ACR072 Acrorenal Syndrome 22
1383 c VND004 Van Der Woude Syndrome 2 22
1384 c MLG148 Malignant Hyperthermia 2 22
1385 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 22
1386 c MCR219 Microphthalmia, Isolated 8 22
1387 TBS009 Teebi-Shaltout Syndrome 22
1388 c CWD009 Cowden Syndrome 7 22
1389 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 22
1390 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 22
1391 c CLR140 Ciliary Dyskinesia, Primary, 40 22
1392 c ERL002 Early Congenital Syphilis 22
1393 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 22
1394 c FCL056 Facial Paresis, Hereditary Congenital, 3 22
1395 LMB014 Limb-Body Wall Complex 21
1396 c SCK033 Seckel Syndrome 8 21
1397 c CLR135 Ciliary Dyskinesia, Primary, 7 21
1398 c HLP022 Holoprosencephaly 8 21
1399 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 21
1400 c CLR117 Ciliary Dyskinesia, Primary, 32 21
1401 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1402 c CLC055 Cole-Carpenter Syndrome 2 21
1403 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 21
1404 c APR009 Aprosencephaly Syndrome 21
1405 VCT008 Vacterl with Hydrocephalus 21
1406 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
1407 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 21
1408 LRY028 Laryngocele 21
1409 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 21
1410 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 21
1411 P MNS011 Monosomy 9q22.3 21
1412 c CTR182 Cataract 23, Multiple Types 21
1413 c CLR088 Ciliary Dyskinesia, Primary, 21 21
1414 c MLG149 Malignant Hyperthermia 3 21
1415 PLR024 Pilarowski-Bjornsson Syndrome 21
1416 P ERL043 Early-Onset Nuclear Cataract 21
1417 OCL070 Oculopalatocerebral Syndrome 21
1418 c HYD041 Hydatidiform Mole, Recurrent, 2 21
1419 c HYP517 Hypoplastic Left Heart Syndrome 2 21
1420 BRN123 Branchial Arch Syndrome, X-Linked 21
1421 RFM002 Roifman-Chitayat Syndrome 21
1422 MSC081 Mosaic Trisomy 15 21
1423 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 21
1424 c SHR033 Short Qt Syndrome 3 21
1425 c CWD008 Cowden Syndrome 6 21
1426 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 21
1427 c CLR101 Ciliary Dyskinesia, Primary, 25 21
1428 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 21
1429 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 21
1430 c HYD040 Hydrolethalus Syndrome 2 21
1431 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 21
1432 c JBR045 Joubert Syndrome 33 21
1433 c BRC105 Brachydactyly, Type A1, D 21
1434 c CLR059 Ciliary Dyskinesia, Primary, 13 21
1435 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 21
1436 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1437 CRN200 Craniosynostosis and Dental Anomalies 21
1438 c ANX008 Anauxetic Dysplasia 2 21
1439 c SCN048 Secondary Syringomyelia 21
1440 c HRN024 Horner Syndrome, Congenital 21
1441 LVC002 Levocardia 21
1442 c MLG150 Malignant Hyperthermia 4 21
1443 DPL007 Duplication of Urethra 21
1444 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
1445 c PRX068 Peroxisome Biogenesis Disorder 7b 21
1446 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 21
1447 c CLR097 Ciliary Dyskinesia, Primary, 23 21
1448 c CRD163 Cardiofaciocutaneous Syndrome 2 21
1449 c HTR018 Heterotaxy, Visceral, 7, Autosomal 21
1450 c CLR139 Ciliary Dyskinesia, Primary, 39 21
1451 c CLR092 Ciliary Dyskinesia, Primary, 18 21
1452 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 21
1453 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 21
1454 RDL022 Radial Hemimelia 21
1455 CHR241 Chromosome 2q24 Microdeletion Syndrome 21
1456 c CLR104 Ciliary Dyskinesia, Primary, 15 21
1457 c CTR136 Cataract 41 21
1458 c HTR023 Heterotaxy, Visceral, 6, Autosomal 21
1459 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
1460 CHR252 Chromosome 5p Duplication 21
1461 c PRV016 Periventricular Nodular Heterotopia 6 21
1462 ULN023 Ulnar Hypoplasia 21
1463 c HTR010 Heterotaxy, Visceral, 4, Autosomal 21
1464 c CLR107 Ciliary Dyskinesia, Primary, 24 21
1465 FBR087 Fibromatosis, Gingival, with Distinctive Facies 21
1466 c EPP026 Epiphyseal Dysplasia, Multiple, 7 21
1467 c PRX066 Peroxisome Biogenesis Disorder 3b 21
1468 c JBR044 Joubert Syndrome 31 21
1469 6QT002 6q Terminal Deletion Syndrome 21
1470 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1471 c MTR077 Mitral Valve Prolapse 2 21
1472 P RCR026 Recurrent Hydatidiform Mole 21
1473 c BLP049 Blepharocheilodontic Syndrome 2 20
1474 ACH039 Achalasia-Microcephaly Syndrome 20
1475 c CWD004 Cowden Syndrome 5 20
1476 MYP038 Myopathy, Congenital, Compton-North 20
1477 CNG009 Congenital Aortic Valve Stenosis 20
1478 c CLR054 Ciliary Dyskinesia, Primary, 12 20
1479 CHR502 Chromosome 17q12 Duplication Syndrome 20
1480 c CLR099 Ciliary Dyskinesia, Primary, 16 20
1481 CRV063 Cervical Spina Bifida Aperta 20
1482 MSL005 Mseleni Joint Disease 20
1483 c EPP009 Epiphyseal Dysplasia, Multiple, 6 20
1484 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
1485 c STC011 Stickler Syndrome, Type V 20
1486 PLV015 Pelvis-Shoulder Dysplasia 20
1487 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 20
1488 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 20
1489 c MTR083 Mitral Valve Prolapse 3 20
1490 ODN020 Odontoma-Dysphagia Syndrome 20
1491 MTC100 Metacarpal 4-5 Fusion 20
1492 c JBR038 Joubert Syndrome 27 20
1493 CLV012 Clavicle, Pseudarthrosis of, Congenital 20
1494 CLB011 Coloboma of Macula with Type B Brachydactyly 20
1495 CGN001 Cogan-Reese Syndrome 20
1496 PTL010 Patella Aplasia-Hypoplasia 20
1497 c CRN068 Corneal Endothelial Dystrophy Type 2 20
1498 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 20
1499 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 20
1500 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 20
1501 c ZMM003 Zimmermann-Laband Syndrome 2 20
1502 c DMN028 Diamond-Blackfan Anemia 12 20
1503 c GLC054 Glaucoma 3, Primary Congenital, D 20
1504 CHR369 Chromosome Xq28 Duplication Syndrome 20
1505 ACR019 Acropectoral Syndrome 20
1506 BLP009 Blepharonasofacial Malformation Syndrome 20
1507 c XLN227 X-Linked Chondrodysplasia Punctata 1 20
1508 FCC002 Faciocardiorenal Syndrome 20
1509 c XLN229 X-Linked Chondrodysplasia Punctata 2 20
1510 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 20
1511 MNS012 Monostotic Fibrous Dysplasia 20
1512 c ORF050 Orofacial Cleft 2 20
1513 P PRX064 Peroxisome Biogenesis Disorder 2b 20
1514 HYP212 Hypomandibular Faciocranial Dysostosis 20
1515 c CLR136 Ciliary Dyskinesia, Primary, 9 20
1516 CHR483 Chromosome 3q13.31 Deletion Syndrome 20
1517 ATR055 Atrial Septal Aneurysm 20
1518 c ORF049 Orofacial Cleft 3 20
1519 INT095 Internal Carotid Agenesis 20
1520 c DMN039 Diamond-Blackfan Anemia 17 20
1521 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 20
1522 17Q012 17q24.2 Microdeletion Syndrome 20
1523 c 46X047 46,xy Sex Reversal 7 20
1524 ORB019 Orbital Margin, Hypoplasia of 20
1525 8PN001 8p Inverted Duplication/deletion Syndrome 20
1526 HRR005 Harrod Syndrome 20
1527 c CLR138 Ciliary Dyskinesia, Primary, 38 20
1528 c GLP007 Geleophysic Dysplasia 3 20
1529 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 20
1530 c CHR227 Chromosome 20 Trisomy 20
1531 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 20
1532 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 20
1533 ACK001 Ackerman Syndrome 20
1534 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 20
1535 c KLF005 Kleefstra Syndrome 2 20
1536 c USH045 Usher Syndrome, Type Iv 20
1537 LMB056 Lumbosacral Spina Bifida Cystica 20
1538 CRV062 Cervical Spina Bifida Cystica 20
1539 c USH043 Usher Syndrome, Type Ih 20
1540 CNG284 Congenital Pseudoarthrosis of the Tibia 20
1541 ISL084 Isolated Trigonocephaly 19
1542 INT231 Intellectual Disability - Athetosis - Microphthalmia 19
1543 c PTS010 Ptosis, Hereditary Congenital 2 19
1544 c BRC053 Brachyolmia Type 2 19
1545 c CLR091 Ciliary Dyskinesia, Primary, 14 19
1546 c DMN030 Diamond-Blackfan Anemia 13 19
1547 c STC012 Stickler Syndrome, Type Iv 19
1548 P CNG070 Congenital Dislocation of the Patella 19
1549 c STS009 Sotos Syndrome 3 19
1550 GRM003 German Syndrome 19
1551 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 19
1552 c RNG006 Ring Chromosome 11 19
1553 SCH025 Schisis Association 19
1554 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 19
1555 PRR029 Pierre Robin Syndrome and Oligodactyly 19
1556 DYS134 Dysspondyloenchondromatosis 19
1557 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 19
1558 c OVR115 Ovarian Dysgenesis 5 19
1559 XQ2003 Xq25 Duplication Syndrome 19
1560 2Q3005 2q31.1 Microdeletion Syndrome 19
1561 c PRR022 Perrault Syndrome 2 19
1562 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
1563 c STC007 Stickler Syndrome, Type 3 19
1564 MLT148 Multiple Pterygium Syndrome, X-Linked 19
1565 c LKD031 Leukodystrophy, Hypomyelinating, 18 19
1566 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 19
1567 NTH002 Nathalie Syndrome 19
1568 c SCK032 Seckel Syndrome 6 19
1569 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 19
1570 FCC003 Faciocardiomelic Dysplasia, Lethal 19
1571 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 19
1572 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
1573 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
1574 RTH002 Rutherfurd Syndrome 19
1575 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
1576 SPN349 Spondylometaphyseal Dysplasia, Type A4 19
1577 P CHR200 Chromosome 16 Trisomy 19
1578 c RNG025 Ring Chromosome 9 19
1579 MSM019 Mesomelic Dysplasia, Savarirayan Type 19
1580 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 19
1581 c ACR108 Acrocephalopolysyndactyly Type Iv 19
1582 c HTR020 Heterotaxy, Visceral, 8, Autosomal 19
1583 DYS180 Dyschondrosteosis and Nephritis 19
1584 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 19
1585 c CLR124 Ciliary Dyskinesia, Primary, 34 19
1586 CHR457 Chromosome 17p13.1 Deletion Syndrome 19
1587 MCR303 Macrosomia with Microphthalmia, Lethal 19
1588 c OVR102 Ovarian Dysgenesis 3 19
1589 ERM001 Ermine Phenotype 19
1590 THR084 Thoracolumbosacral Spina Bifida Cystica 19
1591 THR085 Thoracolumbosacral Spina Bifida Aperta 19
1592 CRV064 Cervicothoracic Spina Bifida Aperta 19
1593 TTL008 Total Spina Bifida Cystica 19
1594 UPP008 Upper Thoracic Spina Bifida Aperta 19
1595 UPP007 Upper Thoracic Spina Bifida Cystica 19
1596 CRV061 Cervicothoracic Spina Bifida Cystica 19
1597 LMB057 Lumbosacral Spina Bifida Aperta 19
1598 c TTL009 Total Spina Bifida Aperta 19
1599 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 19
1600 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 19
1601 P MTR062 Maternal Uniparental Disomy of Chromosome 4 19
1602 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 19
1603 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 19
1604 c DPH016 Diaphragmatic Hernia 3 19
1605 KNS006 Kniest-Like Dysplasia, Lethal 19
1606 c ORF047 Orofacial Cleft 15 19
1607 VGN031 Vaginal Atresia 19
1608 VRR008 Verrucous Hemangioma 19
1609 DST059 Distal Trisomy 17q 19
1610 DST037 Distal Monosomy 9p 19
1611 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 19
1612 SBR011 Subaortic Stenosis--Short Stature Syndrome 19
1613 c CLR134 Ciliary Dyskinesia, Primary, 3 19
1614 c ACQ050 Acquired Schizencephaly 18
1615 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 18
1616 SND006 Sonoda Syndrome 18
1617 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 18
1618 PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 18
1619 c SPN121 Spondylocostal Dysostosis 1 18
1620 ECT085 Ectopia Cordis 18
1621 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 18
1622 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 18
1623 PLD002 Pilodental Dysplasia with Refractive Errors 18
1624 c OMP009 Omphalocele, Autosomal 18
1625 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 18
1626 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 18
1627 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 18
1628 PLY088 Polyvalvular Heart Disease Syndrome 18
1629 c CLR053 Ciliary Dyskinesia, Primary, 11 18
1630 c ANT067 Anterior Segment Dysgenesis 8 18
1631 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 18
1632 c CLR123 Ciliary Dyskinesia, Primary, 37 18
1633 RDR002 Rodrigues Blindness 18
1634 MCD004 Macdermot-Winter Syndrome 18
1635 MSC019 Mosaic Trisomy 7 18
1636 c OVR119 Ovarian Dysgenesis 7 18
1637 CRN076 Crane-Heise Syndrome 18
1638 c HYD042 Hydrocephalus, Autosomal Dominant 18
1639 ATK002 Atkin-Flaitz Syndrome 18
1640 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 18
1641 c BRC035 Brachydactyly Type A5 18
1642 DST045 Distal Trisomy 6p 18
1643 DBL007 Double Outlet Left Ventricle 18
1644 FCL064 Facial Dysmorphism with Multiple Malformations 18
1645 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 18
1646 48X005 48,xyyy 18
1647 c MCR108 Microphthalmia, Isolated 7 18
1648 ATR017 Atrial Septal Defect Coronary Sinus 18
1649 ACR039 Acromegaloid Hypertrichosis Syndrome 18
1650 c CLR056 Ciliary Dyskinesia, Primary, 10 18
1651 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 18
1652 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
1653 1Q4001 1q44 Microdeletion Syndrome 18
1654 CHR416 Chromosome 17q Deletion 18
1655 CHR612 Chromosome 15q14 Deletion Syndrome 18
1656 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 18
1657 c SYM019 Symphalangism, Proximal, 1b 18
1658 THY105 Thyrocerebroretinal Syndrome 18
1659 c GLL045 Galloway-Mowat Syndrome 6 18
1660 HMF007 Hemifacial Hyperplasia with Strabismus 18
1661 ZCH002 Zechi-Ceide Syndrome 18
1662 MSC017 Mosaic Trisomy 22 18
1663 SPR065 Supernumerary Nostril 18
1664 SCL051 Scalp Defects and Postaxial Polydactyly 18
1665 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 18
1666 CHR362 Chromosome 17q21.31 Duplication Syndrome 18
1667 c CWD005 Cowden Syndrome 4 18
1668 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 18
1669 MCR307 Microspherophakia-Metaphyseal Dysplasia 18
1670 PNH003 Pinheiro Freire-Maia Miranda Syndrome 18
1671 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
1672 c PRG096 Pregnancy Loss, Recurrent 2 18
1673 EDN001 Edinburgh Malformation Syndrome 18
1674 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 18
1675 CHR182 Chromosome 10p Duplication 18
1676 c MRG016 Meier-Gorlin Syndrome 8 18
1677 c PRR033 Perrault Syndrome 6 18
1678 OTN001 Otoonychoperoneal Syndrome 18
1679 JNT004 Joint Laxity, Short Stature, and Myopia 18
1680 FMR013 Femoral Agenesis/hypoplasia 18
1681 c MLT166 Multiple Synostoses Syndrome 4 18
1682 c SYN082 Syndromic X-Linked Intellectual Disability 14 18
1683 TTR018 Tetragametic Chimerism 18
1684 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 18
1685 CLF047 Cleft-Limb-Heart Malformation Syndrome 18
1686 c EFM001 Efemp2-Related Cutis Laxa 18
1687 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 18
1688 CRN224 Craniofaciofrontodigital Syndrome 18
1689 c PLY103 Polydactyly, Postaxial, Type A5 18
1690 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
1691 PLY133 Polysyndactyly with Cardiac Malformation 18
1692 MSM018 Mesomelic Limb Shortening and Bowing 18
1693 CHR393 Chromosome 19p13.13 Deletion Syndrome 18
1694 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
1695 DST044 Distal Trisomy 14q 18
1696 SPN353 Spondylometaphyseal Dysplasia, X-Linked 18
1697 HMR016 Humeroradioulnar Synostosis 18
1698 c OVR120 Ovarian Dysgenesis 8 18
1699 CRT061 Cor Triatriatum Dexter 18
1700 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 18
1701 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 18
1702 BRC100 Brachydactyly, Combined B and E Types 18
1703 THR032 Thoracolaryngopelvic Dysplasia 18
1704 c DMN047 Diamond-Blackfan Anemia 18 18
1705 c GLL046 Galloway-Mowat Syndrome 7 18
1706 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 18
1707 PRP101 Peripheral Pulmonary Stenosis 17
1708 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 17
1709 EPB002 Epiblepharon 17
1710 c FCL030 Facial Paresis, Hereditary Congenital, 1 17
1711 TRC114 Trichodental Dysplasia 17
1712 MYL044 Myelocystocele 17
1713 c WRD026 Waardenburg Syndrome, Type 2c 17
1714 c ORF014 Orofacial Cleft 5 17
1715 CLB008 Coloboma of Eye Lens 17
1716 c MSC139 Mosaic Variegated Aneuploidy Syndrome 3 17
1717 c VNT026 Ventricular Septal Defect 2 17
1718 NSL020 Nasal Glial Heterotopia 17
1719 CMP039 Camptodactyly 1 17
1720 49X005 49, Xxxyy Syndrome 17
1721 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 17
1722 THR033 Thoracomelic Dysplasia 17
1723 3P2001 3p25.3 Microdeletion Syndrome 17
1724 c MTR063 Maternal Uniparental Disomy of Chromosome 2 17
1725 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 17
1726 CNG347 Congenital Tricuspid Stenosis 17
1727 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 17
1728 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 17
1729 ULN005 Ulna and Fibula, Hypoplasia of 17
1730 c INT005 Intermediate Malignant Teratoma 17
1731 c PLY163 Polydactyly, Postaxial, Type A2 17
1732 c RNG012 Ring Chromosome 17 17
1733 c TRN062 Transient Neonatal Myasthenia Gravis 17
1734 c RNG021 Ring Chromosome 5 17
1735 DYS135 Dysphagia Lusoria 17
1736 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 17
1737 TBT001 Tabatznik Syndrome 17
1738 c CFF013 Coffin-Siris Syndrome 8 17
1739 c GLL047 Galloway-Mowat Syndrome 8 17
1740 c SX2003 Six2-Related Frontonasal Dysplasia 17
1741 ERL040 Early-Onset Sutural Cataract 17
1742 MMM002 Mammary-Digital-Nail Syndrome 17
1743 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 17
1744 c GLC089 Glaucoma 3, Primary Congenital, E 17
1745 c MLG152 Malignant Hyperthermia 6 17
1746 c MRD001 Marden Walker Like Syndrome 17
1747 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 17
1748 c FCL050 Facial Paresis, Hereditary Congenital, 2 17
1749 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 17
1750 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 17
1751 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 17
1752 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 17
1753 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1754 P HRD043 Hereditary Congenital Facial Paresis 17
1755 19P001 19p13.12 Microdeletion Syndrome 17
1756 c MTR061 Maternal Uniparental Disomy of Chromosome 6 17
1757 LNG102 Long-Thumb Brachydactyly Syndrome 17
1758 c ANT087 Anterior Segment Dysgenesis 6 17
1759 DST036 Distal Trisomy 15q 17
1760 c PTT042 Pitt-Hopkins-Like Syndrome 17
1761 c PLY101 Polydactyly, Postaxial, Type A6 17
1762 SBR012 Subaortic Stenosis, Membranous 17
1763 c 46X050 46,xx Sex Reversal 3 17
1764 CRV066 Cervical Aortic Arch 17
1765 ILL003 Illum Syndrome 17
1766 MTR027 Mitral Atresia 17
1767 DBL010 Double-Orifice Mitral Valve 17
1768 16P003 16p13.11 Microdeletion Syndrome 17
1769 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 17
1770 c 46X046 46,xy Sex Reversal 4 17
1771 7P2001 7p22.1 Microduplication Syndrome 17
1772 c CLR067 Ciliary Dyskinesia, Primary, 4 17
1773 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 17
1774 CRN197 Coronary Arterial Fistulas 17
1775 P RNG031 Ring Chromosome Y Syndrome 17
1776 KMM002 Kommerell Diverticulum 17
1777 8P1001 8p11.2 Deletion Syndrome 17
1778 CNG491 Congenital Portosystemic Shunt 17
1779 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 17
1780 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 16
1781 CRB164 Cerebrooculonasal Syndrome 16
1782 PTS017 Ptosis, Strabismus, and Ectopic Pupils 16
1783 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 16
1784 11Q001 11q22.2q22.3 Microdeletion Syndrome 16
1785 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 16
1786 CLF034 Cleft Hard Palate 16
1787 c PLY137 Polydactyly, Preaxial Iii 16
1788 BLT023 Bilateral Acute Depigmentation of the Iris 16
1789 c CRN279 Cornea Plana 1, Autosomal Dominant 16
1790 CHR567 Chromosome 5q12 Deletion Syndrome 16
1791 ESS005 Essential Iris Atrophy 16
1792 c CLR069 Ciliary Dyskinesia, Primary, 8 16
1793 NSL017 Nasolacrimal Duct Cyst 16
1794 c PTS018 Ptosis, Hereditary Congenital 1 16
1795 MMB012 Membranous Cranial Ossification, Delayed 16
1796 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 16
1797 c MTR067 Maternal Uniparental Disomy of Chromosome 16 16
1798 8Q1001 8q12 Microduplication Syndrome 16
1799 THR030 Thoraco Abdominal Enteric Duplication 16
1800 c PTN012 Patent Ductus Arteriosus 3 16
1801 CNG108 Congenital Mitral Stenosis 16
1802 FRY007 Fryns Macrocephaly 16
1803 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 16
1804 ISL067 Isolated Congenital Megalocornea 16
1805 DYS049 Dysplastic Cortical Hyperostosis 16
1806 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 16
1807 c TYP003 Type I Ehlers-Danlos Syndrome 16
1808 CHR614 Chromosome 16p13.2 Deletion Syndrome 16
1809 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 16
1810 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 16
1811 c EXS021 Exostoses, Multiple, Type Iii 16
1812 c PTN013 Patent Ductus Arteriosus 2 16
1813 CNG506 Congenital Amyoplasia 16
1814 SMM003 Summitt Syndrome 16
1815 c CRN298 Carney Complex, Type 2 16
1816 c CLD018 Cleidocranial Dysplasia, Recessive Form 16
1817 DLT013 Deletion 5q35 16
1818 MRF018 Marfanoid Habitus with Microcephaly and Glomerulonephritis 16
1819 c DMN045 Diamond-Blackfan Anemia-Like 16
1820 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 16
1821 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 16
1822 SGR001 Sugarman Brachydactyly 16
1823 c OCY002 Oocyte Maturation Defect 2 16
1824 ANN018 Anonychia, Total, with Microcephaly 16
1825 6P2001 6p22 Microdeletion Syndrome 16
1826 HYP689 Hypomelia with Mullerian Duct Anomalies 16
1827 CLR127 Ciliary Dyskinesia, Primary, 36, X-Linked 16
1828 c OVR118 Ovarian Dysgenesis 6 16
1829 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 16
1830 PCH004 Pachygyria, Frontotemporal 16
1831 DDL001 Didelphys Uterus 16
1832 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 16
1833 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 16
1834 ERL037 Early-Onset Lamellar Cataract 16
1835 14Q001 14q12 Microdeletion Syndrome 16
1836 c PLY144 Polydactyly, Postaxial, Type A7 16
1837 WHT005 White Forelock with Malformations 16
1838 RDL029 Radial Ray Hypoplasia with Choanal Atresia 16
1839 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 16
1840 CNG489 Congenital Herpes Simplex Virus Infection 16
1841 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 16
1842 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 16
1843 MNS013 Monosomy 13q34 16
1844 BKS002 Book Syndrome 16
1845 PRN057 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations 16
1846 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
1847 CLD006 Cleidorhizomelic Syndrome 16
1848 16P004 16p13.11 Microduplication Syndrome 16
1849 c GLC052 Glaucoma 3, Primary Congenital, C 16
1850 RTF001 Retiform Hemangioendothelioma 16
1851 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 16
1852 PLM065 Pulmonary Supravalvular Stenosis 16
1853 DST055 Distal 22q11.2 Microduplication Syndrome 16
1854 PHK006 Phakomatosis Pigmentokeratotica 16
1855 ATR019 Atrial Septal Defect Sinus Venosus 16
1856 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 16
1857 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 16
1858 c ORF020 Orofacial Cleft 12 16
1859 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 16
1860 RGH010 Right Ventricular Hypoplasia, Isolated 16
1861 c PLY178 Polydactyly, Postaxial, Type A8 16
1862 c ORF016 Orofacial Cleft 8 16
1863 c DMN048 Diamond-Blackfan Anemia 19 16
1864 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 16
1865 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1866 c OCY005 Oocyte Maturation Defect 4 16
1867 TTR016 Tetra-Amelia Syndrome 16
1868 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 16
1869 SBM006 Submucosal Cleft Palate 15
1870 ESP040 Esophageal Duplication Cyst 15
1871 CRN192 Craniorhiny 15
1872 PFF010 Pfeiffer-Palm-Teller Syndrome 15
1873 c PRT113 Parietal Foramina 3 15
1874 CMP016 Camptobrachydactyly 15
1875 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
1876 c ORF023 Orofacial Cleft 4 15
1877 XP2002 Xp22.13p22.2 Duplication Syndrome 15
1878 CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 15
1879 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 15
1880 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 15
1881 THM021 Thumb Deformity and Alopecia 15
1882 CNG243 Congenital Subglottic Stenosis 15
1883 ADC008 Adactylia, Unilateral 15
1884 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 15
1885 c DMN049 Diamond-Blackfan Anemia 20 15
1886 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 15
1887 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 15
1888 DST082 Distal Trisomy 10q 15
1889 20Q001 20q13.33 Microdeletion Syndrome 15
1890 CRY029 Cryptomicrotia-Brachydactyly Syndrome 15
1891 c CNT108 Central Polydactyly 15
1892 CNG330 Congenital Megacalycosis 15
1893 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 15
1894 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 15
1895 SPN120 Spondylocamptodactyly 15
1896 DRM038 Dermotrichic Syndrome 15
1897 PRS111 Persistent Fifth Aortic Arch 15
1898 CLF033 Cleft Mitral Valve 15
1899 GNC010 Genochondromatosis 15
1900 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 15
1901 DST035 Distal Trisomy 18q 15
1902 c PTR011 Paternal Uniparental Disomy of Chromosome 1 15
1903 1P2001 1p21.3 Microdeletion Syndrome 15
1904 UNL006 Unilateral Focal Polymicrogyria 15
1905 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
1906 VNB001 Van Benthem-Driessen-Hanveld Syndrome 15
1907 c ORF025 Orofacial Cleft 6 15
1908 c NNS019 Nonsyndromic Holoprosencephaly 15
1909 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 15
1910 TYS007 Tyshchenko Syndrome 15
1911 ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 15
1912 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 15
1913 20P001 20p12.3 Microdeletion Syndrome 15
1914 EXT062 Extracranial Carotid Artery Aneurysm 15
1915 TRS011 Trisomy 2 Mosaicism 15
1916 ISL118 Isolated Tracheoesophageal Fistula 15
1917 AML053 Amelia, Autosomal Recessive 15
1918 9P1001 9p13 Microdeletion Syndrome 15
1919 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 15
1920 RDL031 Radial Aplasia, X-Linked 15
1921 c PLY182 Polydactyly, Postaxial, Type A9 15
1922 P ZYG003 Zygodactyly 1 15
1923 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 15
1924 WLS002 Wilson-Mikity Syndrome 15
1925 HYP497 Hyperphalangy 15
1926 PLY132 Polysyndactyly, Crossed 15
1927 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 15
1928 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 15
1929 MSC078 Mosaic Trisomy 17 15
1930 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 15
1931 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 15
1932 DST069 Distal Monosomy 12q 15
1933 PTN009 Patent Urachus 15
1934 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 15
1935 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 15
1936 c RNG011 Ring Chromosome 16 15
1937 NND008 Non-Distal Monosomy 7p 15
1938 CNG252 Congenital Non-Communicating Hydrocephalus 15
1939 ODN008 Odontomicronychial Dysplasia 15
1940 TTR010 Tetramelic Monodactyly 15
1941 MCR367 Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 15
1942 CNG062 Congenital Bronchobiliary Fistula 15
1943 P XKP001 Xk Aprosencephaly 15
1944 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 14
1945 HYP727 Hypoglossia with Situs Inversus 14
1946 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1947 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 14
1948 CNG067 Congenital Cystic Eye 14
1949 HRR003 Herrmann Opitz Craniosynostosis 14
1950 c RNG014 Ring Chromosome 19 14
1951 MSC080 Mosaic Trisomy 12 14
1952 TRN046 Transverse Vaginal Septum 14
1953 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 14
1954 c EHL088 Ehlers-Danlos Syndrome Type 2 14
1955 ECT086 Ectrodactyly-Polydactyly 14
1956 TRN017 Transient Neonatal Neutropenia 14
1957 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 14
1958 9Q2003 9q21.13 Microdeletion Syndrome 14
1959 ACC011 Accessory Mitral Valve Tissue 14
1960 CMP077 Composite Hemangioendothelioma 14
1961 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 14
1962 CYS047 Cystic Fibrosis, Modifier of, 1 14
1963 VCL007 Vocal Cord Paralysis and Ptosis 14
1964 AML012 Ameloonychohypohidrotic Syndrome 14
1965 ATR053 Atresia of Urethra 14
1966 P LRY049 Laryngotracheoesophageal Cleft Type 4 14
1967 CNS012 Cono-Spondylar Dysplasia 14
1968 10Q002 10q22.3q23.3 Microduplication Syndrome 14
1969 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 14
1970 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 14
1971 c HLP021 Holoprosencephaly 6 14
1972 ISL120 Isolated Cerebellar Agenesis 14
1973 c KLF002 Kleefstra Syndrome Due to a Point Mutation 14
1974 c MTR057 Maternal Uniparental Disomy of Chromosome X 14
1975 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 14
1976 P OTP002 Otopalatodigital Spectrum Disorders 14
1977 PLT010 Pili Torti Onychodysplasia 14
1978 CHN047 Chondroectodermal Dysplasia with Night Blindness 14
1979 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 14
1980 FRS011 First Branchial Cleft Anomaly 14
1981 DST079 Distal Trisomy 5q 14
1982 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 14
1983 49X004 49,xyyyy Syndrome 14
1984 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 14
1985 NND006 Non-Distal Monosomy 20q 14
1986 DST038 Distal Monosomy 7q36 14
1987 CHN027 Chondrodysplasia Lethal Recessive 14
1988 DRL001 Dural Sinus Malformation 14
1989 HLL014 Hallux Varus and Preaxial Polysyndactyly 14
1990 PST104 Postaxial Oligodactyly, Tetramelic 14
1991 PLM116 Pulmonary Artery Hypoplasia 14
1992 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
1993 P BMN001 Biemond Syndrome 14
1994 c OCY004 Oocyte Maturation Defect 3 14
1995 ANR045 Aneurysm of Interventricular Septum 14
1996 20Q003 20q11.2 Microdeletion Syndrome 14
1997 c DPH025 Diaphragmatic Hernia 2 14
1998 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 14
1999 NND003 Non-Distal Trisomy 10q 14
2000 WHB001 Wahab Syndrome 14
2001 KLL013 Kallmann Syndrome-Heart Disease Syndrome 14
2002 NND005 Non-Distal Trisomy 13q 14
2003 c SYN040 Synpolydactyly 3 14
2004 CMP084 Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome 14
2005 3Q2006 3q27.3 Microdeletion Syndrome 14
2006 5Q3001 5q35 Microduplication Syndrome 14
2007 c OCY006 Oocyte Maturation Defect 5 14
2008 AST010 Astley-Kendall Syndrome 14
2009 c MTP014 Metaphyseal Anadysplasia 2 14
2010 CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 14
2011 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 14
2012 LRS009 Larsen-Like Syndrome, Lethal Type 14
2013 INF059 Infundibulopelvic Dysgenesis 14
2014 CNG235 Congenital Microgastria 14
2015 c PLY054 Polydactyly, Postaxial, Type A4 13
2016 c PLY053 Polydactyly, Postaxial, Type A3 13
2017 c MTR060 Maternal Uniparental Disomy of Chromosome 9 13
2018 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 13
2019 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 13
2020 CMP079 Complete Septate Uterus 13
2021 MSC086 Mesocardia 13
2022 6Q1002 6q16 Microdeletion Syndrome 13
2023 RCT033 Rectal Duplication 13
2024 c PRV013 Periventricular Nodular Heterotopia 3 13
2025 c CTR176 Cataract, Age-Related Nuclear 13
2026 SCR022 Sacral Meningocele Conotruncal Heart Defects 13
2027 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 13
2028 CXR001 Coxoauricular Syndrome 13
2029 ANR041 Aniridia-Intellectual Disability Syndrome 13
2030 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 13
2031 MCR186 Microtriplication 11q24.1 13
2032 SBP005 Subpulmonary Stenosis 13
2033 TRN045 True Unicornuate Uterus 13
2034 ART091 Aorto-Ventricular Tunnel 13
2035 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
2036 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
2037 c PRG093 Pregnancy Loss, Recurrent 3 13
2038 ACR078 Acral Self-Healing Collodion Baby 13
2039 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 13
2040 XSM001 X Small Rings 13
2041 c ORF029 Orofacial Cleft 13 13
2042 c ACQ029 Acquired Porencephaly 13
2043 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 13
2044 P CNG326 Congenital Primary Megaureter 13
2045 ART097 Aorto-Left Ventricular Tunnel 13
2046 c USH011 Usher Syndrome, Type 2b 13
2047 DST071 Distal Monosomy 19p13.3 13
2048 c KMT002 Kmt2b-Related Dystonia 13
2049 LNG081 Longitudinal Vaginal Septum 13
2050 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 13
2051 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 13
2052 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 13
2053 ART095 Aortic Valve Atresia 13
2054 NND004 Non-Distal Monosomy 10q 13
2055 c ORF024 Orofacial Cleft 9 13
2056 MDL016 Midline Cervical Cleft 13
2057 CLF019 Cleft Palate Short Stature Vertebral Anomalies 13
2058 SCL050 Scoliosis, Arachnodactyly, and Blindness 13
2059 XLN133 X-Linked Intellectual Disability, Shashi Type 13
2060 MND008 Mandibular Arteriovenous Malformation 13
2061 APR008 Aprosencephaly and Cerebellar Dysgenesis 13
2062 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 13
2063 c ACR046 Acropectorovertebral Dysplasia F Form 13
2064 ACR027 Acrodysplasia Scoliosis 13
2065 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 13
2066 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 13
2067 c SPN122 Spondylocostal Dysostosis 2 13
2068 ATR018 Atrial Septal Defect Ostium Primum 13
2069 CNG335 Congenital Ectropion Uveae 13
2070 ACH028 Acheiria 13
2071 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 13
2072 P PCH020 Pachyonychia Congenita, Autosomal Recessive 13
2073 TRC112 Trochlea of the Humerus, Aplasia of 13
2074 HND012 Handigodu Joint Disease 13
2075 CHR498 Chromosome 16p11.2 Duplication Syndrome 13
2076 P HRT041 Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome 13
2077 ANN015 Anonychia with Flexural Pigmentation 12
2078 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
2079 ERL036 Early-Onset Posterior Subcapsular Cataract 12
2080 CLF040 Cleft Lip-Retinopathy Syndrome 12
2081 5Q3002 5q31.3 Microdeletion Syndrome 12
2082 P ISC010 Isochromosome Yp 12
2083 ETH013 Euthyroid Graves Orbitopathy 12
2084 DST052 Distal 7q11.23 Microduplication Syndrome 12
2085 CNG519 Congenital Gerbode Defect 12
2086 c VSC043 Vesicoureteral Reflux 6 12
2087 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 12
2088 c CHR180 Chromosome 10, Uniparental Disomy 12
2089 TRP023 Triphalangeal Thumbs and Dislocation of Patella 12
2090 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 12
2091 ODN004 Odonto Onycho Dysplasia with Alopecia 12
2092 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 12
2093 c HLL012 Hallermann-Streiff-Like Syndrome 12
2094 PRT087 Parietal Encephalocele 12
2095 c SCL053 Sclerocornea, Autosomal Dominant 12
2096 c SPN123 Spondylocostal Dysostosis 3 12
2097 16P005 16p11.2p12.2 Microduplication Syndrome 12
2098 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 12
2099 URC013 Urachal Diverticulum 12
2100 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
2101 XLN145 X-Linked Intellectual Disability, Pai Type 12
2102 46X015 46,xy Ovotesticular Disorder of Sex Development 12
2103 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
2104 CRN194 Cranial Meningocele 12
2105 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 12
2106 LWR017 Lower Limb Malformation-Hypospadias Syndrome 12
2107 P ANT062 Anterior Urethral Valve 12
2108 CRN204 Craniofacial Conodysplasia 12
2109 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 12
2110 MDR001 Medeira-Dennis-Donnai Syndrome 12
2111 ANR037 Aneurysm or Dilatation of Ascending Aorta 12
2112 SHN001 Shone Complex 12
2113 ISL128 Isolated Microspherophakia 12
2114 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 12
2115 JXT004 Juxtaposition of the Atrial Appendages 12
2116 ISC019 Ischiovertebral Syndrome 12
2117 CRD014 Cardiac Diverticulum 12
2118 ISL133 Isolated Epispadias 12
2119 c MGL035 Megalencephaly, Autosomal Dominant 12
2120 c B3G001 B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome 12
2121 ISL108 Isolated Splenogonadal Fusion 12
2122 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 12
2123 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 12
2124 LWN002 Low Anorectal Malformation 12
2125 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 12
2126 13Q001 13q12.3 Microdeletion Syndrome 12
2127 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 12
2128 PRM238 Primary Intralymphatic Angioendothelioma 12
2129 PRP103 Peripapillary Staphyloma 12
2130 c GRD008 Grid2-Related Spinocerebellar Ataxia 12
2131 MSC079 Mosaic Trisomy 1 12
2132 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 12
2133 PSD091 Pseudounicornuate Uterus 12
2134 ABS016 Absence of the Pulmonary Artery 12
2135 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 12
2136 PRC041 Pericardial and Diaphragmatic Defect 11
2137 GZR001 Guizar Vasquez Sanchez Manzano Syndrome 11
2138 c CHR161 Chiari Malformation Type 3 11
2139 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 11
2140 XLN142 X-Linked Intellectual Disability, Stevenson Type 11
2141 SBP003 Subependymal Nodular Heterotopia 11
2142 SYM014 Symbrachydactyly of Hands and Feet 11
2143 c TRS033 Trisomy 18-Like Syndrome 11
2144 MTR084 Maternal Hyperthermia-Induced Birth Defects 11
2145 HGH026 High Anorectal Malformation 11
2146 c CNG343 Congenital Coronary Artery Aneurysm 11
2147 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
2148 NSL021 Nasal Encephalocele 11
2149 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 11
2150 ART098 Aorto-Right Ventricular Tunnel 11
2151 CRN087 Craniomicromelic Syndrome 11
2152 MSC090 Mosaic Trisomy 3 11
2153 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 11
2154 c HYP545 Hypospadias 3, Autosomal 11
2155 c CNG253 Congenital Communicating Hydrocephalus 11
2156 c OCY007 Oocyte Maturation Defect 6 11
2157 c PRM168 Primary Syringomyelia 11
2158 LBR027 Laubry-Pezzi Syndrome 11
2159 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 11
2160 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 11
2161 c CSK002 Cask-Related Intellectual Disability 11
2162 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 11
2163 c PST093 Posterior Hypospadias 11
2164 c PTR015 Paternal Uniparental Disomy of Chromosome X 11
2165 CNG357 Congenital Symblepharon 11
2166 c ACR115 Acrorenal Syndrome, Autosomal Recessive 11
2167 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 11
2168 c VSC042 Vesicoureteral Reflux 5 11
2169 c BRC037 Brachydactyly Type A7 11
2170 c CNG455 Congenital Aortopulmonary Window 11
2171 FRT004 Fourth Branchial Cleft Anomaly 11
2172 c UNP004 Uniparental Disomy of Chromosome 2 11
2173 HLP030 Holoprosencephaly-Caudal Dysgenesis Syndrome 11
2174 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 11
2175 ISL029 Isolated Anorectal Malformation 11
2176 c SPN124 Spondylocostal Dysostosis 4 11
2177 CNT077 Central Bilateral Macrogyria 10
2178 CRV060 Cervical Dermoid Cyst 10
2179 BLT009 Bilateral Generalized Polymicrogyria 10
2180 c PTR019 Paternal Uniparental Disomy of Chromosome 5 10
2181 ULN014 Ulnar Hemimelia 10
2182 c BLT007 Bilateral Frontal Polymicrogyria 10
2183 c CNG257 Congenital Pulmonary Sequestration 10
2184 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 10
2185 URC012 Urachal Sinus 10
2186 c SYN050 Syndactyly Type 6 10
2187 XLN149 X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis 10
2188 ONY006 Onychodystrophy-Anonychia 10
2189 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 10
2190 LWR014 Lower Limb Hypertrophy 10
2191 9Q3002 9q33.3q34.11 Microdeletion Syndrome 10
2192 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 10
2193 CNG244 Congenital Laryngeal Cyst 10
2194 IDP062 Idiopathic Syringomyelia 10
2195 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 10
2196 HMR042 Humero-Ulnar Synostosis 10
2197 CNG318 Congenital Genu Recurvatum 10
2198 c VSC040 Vesicoureteral Reflux 4 10
2199 c VSC041 Vesicoureteral Reflux 7 10
2200 MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 10
2201 GLS016 Glossopalatine Ankylosis 10
2202 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 10
2203 DST089 Distal Trisomy 3p 10
2204 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 10
2205 PRS112 Persistent Eustachian Valve 10
2206 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 10
2207 MGC005 Megacystis-Megaureter Syndrome 10
2208 c ATS065 Autosomal Dominant Coarctation of Aorta 10
2209 CNG241 Congenital Laryngeal Palsy 10
2210 c EHL090 Ehlers-Danlos Syndrome Type 7b 10
2211 ART130 Arthrogryposis with Hyperkeratosis 10
2212 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
2213 CRN207 Coronary Sinus Stenosis 10
2214 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 10
2215 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
2216 c CNG346 Congenital Aortic Valve Insufficiency 10
2217 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
2218 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 10
2219 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
2220 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 9
2221 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 9
2222 CNG277 Congenital Pseudoarthrosis of the Fibula 9
2223 c CNG433 Congenital Cornea Plana 9
2224 LPM011 Lip, Median Nodule of Upper 9
2225 c UNP003 Uniparental Disomy of Chromosome 11 9
2226 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 9
2227 GNN001 Genuine Diffuse Phlebectasia 9
2228 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 9
2229 P HRN027 Hernia, Anterior Diaphragmatic 9
2230 c ISC013 Isochromosomy Yq 9
2231 c HYD067 Hydatidiform Mole, Recurrent, 3 9
2232 c GLC032 Glaucoma, Hereditary 9
2233 c FBL003 Fbln5-Related Cutis Laxa 9
2234 CNG279 Congenital Pseudoarthrosis of the Ulna 9
2235 ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 9
2236 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
2237 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 9
2238 IDP017 Idiopathic Dilatation of the Pulmonary Artery 9
2239 c HYD068 Hydatidiform Mole, Recurrent, 4 9
2240 CNG282 Congenital Knee Dislocation 9
2241 MSC087 Mosaic Trisomy 4 9
2242 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
2243 MSC088 Mosaic Trisomy 5 9
2244 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 9
2245 c ZYG007 Zygodactyly Type 3 9
2246 c MCR185 Macrodactyly of Toes 9
2247 PRC042 Parachute Tricuspid Valve 9
2248 THR083 Third Branchial Cleft Anomaly 9
2249 DST090 Distal Trisomy 2p 9
2250 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 9
2251 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 8
2252 MXL013 Maxillary Arteriovenous Malformation 8
2253 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 8
2254 INV017 Inverse Marcus-Gunn Phenomenon 8
2255 CRN208 Coronary Sinus Atresia 8
2256 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 8
2257 CNG272 Congenital Achiasma 8
2258 c GLL043 Galloway-Mowat Syndrome 2 8
2259 BNL004 Benallegue Lacete Syndrome 8
2260 DNC006 Diencephalic-Mesencephalic Junction Dysplasia 8
2261 CNG283 Congenital Pseudoarthrosis of the Femur 8
2262 DST085 Distal Trisomy 2q 8
2263 DBR003 Dobrow Syndrome 8
2264 SPN082 Spina Bifida Hypospadias 8
2265 DST087 Distal Trisomy 7p 8
2266 CNG278 Congenital Pseudoarthrosis of the Radius 8
2267 PRN048 Prenatal Benign Hypophosphatasia 8
2268 AML037 Amelia of Upper Limb 8
2269 MCR184 Macrodactyly of Fingers 8
2270 c CHR162 Chiari Malformation Type 4 8
2271 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 8
2272 MRN008 Marin-Amat Syndrome 8
2273 MLH001 Melhem Fahl Syndrome 8
2274 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 8
2275 c ZYG006 Zygodactyly Type 2 8
2276 c SYN077 Syndromic X-Linked Intellectual Disability 12 8
2277 3Q2004 3q26 Microduplication Syndrome 8
2278 SYN027 Syngnathia Cleft Palate 8
2279 APD003 Apodia 8
2280 ACC010 Accessory Tricuspid Valve Tissue 8
2281 ECT107 Ectasia of the Left Atrial Appendage 8
2282 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 8
2283 PHK009 Phakomatosis Cesiomarmorata 8
2284 c CRB078 Cerebrocostomandibular-Like Syndrome 8
2285 OKH001 Okihiro Syndrome Due to a Point Mutation 8
2286 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 7
2287 c PST077 Posterior Meningocele 7
2288 BPR001 Bipartite Talus 7
2289 P JVN036 Juvenile Sialidosis Type 2 7
2290 c CNG348 Congenital Sialidosis Type 2 7
2291 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 7
2292 c ATS360 Autosomal Recessive Intellectual Disability 58 7
2293 c ATS410 Autosomal Dominant Intellectual Disability 49 7
2294 MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 7
2295 LRY034 Laryngotracheal Angioma 7
2296 PLR014 Pleuro-Pericardial Cyst 7
2297 DST076 Distal Trisomy 13q 7
2298 TBF001 Tibio-Fibular Synostosis 7
2299 DST074 Distal Trisomy 20q 7
2300 TRS020 Tarsal Kink Syndrome 7
2301 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 7
2302 c LRY051 Laryngotracheoesophageal Cleft Type 1 7
2303 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 7
2304 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
2305 INT254 Intermediate Anorectal Malformation 7
2306 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
2307 TNN014 Tunnel Subaortic Stenosis 7
2308 c KRN003 Kernicterus Due to Isoimmunization 7
2309 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
2310 CRD171 Cordiform Uterus 7
2311 ATS109 Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita 7
2312 ISL034 Isolated Megalencephaly 7
2313 c CNG476 Congenital Systemic Arteriovenous Fistula 7
2314 HYP500 Hyperphalangy, Unilateral 7
2315 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 7
2316 c CHR201 Chromosome 16, Uniparental Disomy 7
2317 HMR031 Humeral Agenesis/hypoplasia 7
2318 c CRN093 Craniosynostosis Autosomal Dominant 7
2319 c LRY048 Laryngotracheoesophageal Cleft Type 0 7
2320 PHK010 Phakomatosis Spilorosea 7
2321 4P1001 4p16.3 Microduplication Syndrome 7
2322 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 7
2323 c MTR064 Maternal Uniparental Disomy of Chromosome 22 7
2324 RNN007 Reunion Island Larsen-Like Syndrome 7
2325 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
2326 DST078 Distal Trisomy 6q 7
2327 KRS001 Krauss Herman Holmes Syndrome 7
2328 c ZYG005 Zygodactyly Type 4 7
2329 IDP088 Idiopathic Isolated Micropenis 7
2330 DST081 Distal Trisomy 11q 7
2331 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 6
2332 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
2333 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 6
2334 EXT047 Extralobar Congenital Pulmonary Sequestration 6
2335 OMP003 Omphalomesenteric Cyst 6
2336 UPP009 Upper Limb Hypertrophy 6
2337 c ACR048 Acrorenal Syndrome Recessive 6
2338 CNG287 Congenital Absence of Both Forearm and Hand 6
2339 DST073 Distal Monosomy 7p 6
2340 ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 6
2341 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 6
2342 c ISL045 Isolated Focal Cortical Dysplasia Type I 6
2343 DST066 Distal Monosomy 20q 6
2344 CNG327 Congenital Epstein-Barr Virus Infection 6
2345 DST057 Distal Trisomy 19q 6
2346 BLK004 Blake Pouch Cyst 6
2347 PRT111 Partial Septate Uterus 6
2348 HYP501 Hyperphalangy, Bilateral 6
2349 DST083 Distal Trisomy 9q 6
2350 DST058 Distal Monosomy 12p 6
2351 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
2352 CNG289 Congenital Absence/hypoplasia of Thumb 6
2353 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 6
2354 c PRD024 Prader-Willi Syndrome Due to Translocation 6
2355 c ATS403 Autosomal Dominant Intellectual Disability 40 6
2356 CNG290 Congenital Absence of Both Lower Leg and Foot 6
2357 c SN3001 Sin3a-Related Intellectual Disability Syndrome 6
2358 20P002 20p13 Microdeletion Syndrome 6
2359 ECT057 Ectasia of the Right Atrial Appendage 6
2360 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6
2361 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 6
2362 1P3003 1p35.2 Microdeletion Syndrome 6
2363 PRS138 Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium 6
2364 7Q3001 7q31 Microdeletion Syndrome 6
2365 14Q003 14q11.2 Microduplication Syndrome 6
2366 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
2367 PLM054 Pulmonary Artery Coming from the Aorta 6
2368 DST054 Distal 17p13.3 Microdeletion Syndrome 6
2369 c ANG058 Angelman Syndrome Due to a Point Mutation 6
2370 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
2371 c OCL037 Oculodentodigital Dysplasia Dominant 6
2372 RTN189 Retinal Capillary Malformation 6
2373 c HYD017 Hydrocephalus Autosomal Recessive 6
2374 c ATS348 Autosomal Dominant Intellectual Disability 30 6
2375 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
2376 DST070 Distal Monosomy 4q 6
2377 DST075 Distal Trisomy 16q 6
2378 CMM018 Common Mesentery 6
2379 HMR037 Humero-Ulnar Synostosis, Bilateral 6
2380 11P002 11p15.4 Microduplication Syndrome 6
2381 DST077 Distal Trisomy 22q 6
2382 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 6
2383 P ISL038 Isolated Focal Cortical Dysplasia Type Ib 6
2384 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
2385 ERL041 Early-Onset Zonular Cataract 6
2386 CHN052 Choanal Atresia, Bilateral 6
2387 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
2388 DST088 Distal Trisomy 1p36 6
2389 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
2390 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 6
2391 CMP057 Complete Cryptophthalmia 6
2392 9Q3001 9q31.1q31.3 Microdeletion Syndrome 6
2393 P CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 6
2394 EXT043 External Auditory Canal Aplasia/hypoplasia 6
2395 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 6
2396 16Q002 16q24.1 Microdeletion Syndrome 6
2397 RDL019 Radio-Ulnar Synostosis, Unilateral 6
2398 14Q005 14q24.1q24.3 Microdeletion Syndrome 6
2399 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 6
2400 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 6
2401 12Q001 12q15q21.1 Microdeletion Syndrome 6
2402 ISL028 Isolated Cerebellar Vermis Hypoplasia 6
2403 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 6
2404 INT186 Intralobar Congenital Pulmonary Sequestration 6
2405 RDL020 Radio-Ulnar Synostosis, Bilateral 6
2406 HMR036 Humero-Ulnar Synostosis, Unilateral 6
2407 DST084 Distal Trisomy 8q 6
2408 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 6
2409 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 6
2410 ISL022 Isolated Congenital Nasal Pyriform Aperture Stenosis 6
2411 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
2412 CHN051 Choanal Atresia, Unilateral 6
2413 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 6
2414 CCH007 Cochleovestibular Dysplasia 6
2415 P SYC001 Say Carpenter Syndrome 5
2416 c GLC029 Glaucoma Type 1c 5
2417 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
2418 c CNT094 Cantú Syndrome and Related Disorders 5
2419 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 5
2420 c GLC035 Glaucoma, Primary Infantile Type 3a 5
2421 c GLC033 Glaucoma, Hereditary Adult Type 1a 5
2422 c SCN046 Secondary Short Bowel Syndrome 5
2423 ISL079 Isolated Encephalocele 5
2424 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 5
2425 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 5
2426 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
2427 ART099 Aortic Valve Dysplasia 5
2428 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
2429 ATY020 Atypical Norrie Disease Due to Monosomy Xp11.3 5
2430 3Q2005 3q26q27 Microdeletion Syndrome 5
2431 MCR190 Macrodactyly of Toes, Unilateral 5
2432 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
2433 NND007 Non-Distal Monosomy 12q 5
2434 DST067 Distal Monosomy 14q 5
2435 MDN007 Median Cleft Lip/mandibule 5
2436 c PTR020 Paternal Uniparental Disomy of Chromosome 20 5
2437 NND009 Non-Distal Trisomy 9q 5
2438 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 5
2439 SYN096 Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication 5
2440 MCR188 Macrodactyly of Fingers, Unilateral 5
2441 DGS007 Digestive Duplication 5
2442 CNG334 Congenital Esophageal Diverticulum 5
2443 XYL001 Xylt1-Cdg 5
2444 c BRN138 Branchiootorenal Spectrum Disorder 5
2445 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 5
2446 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 5
2447 P LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 5
2448 ISL056 Isolated Lissencephaly Type 1 Without Known Genetic Defects 5
2449 MDL018 Madelung Deformity, Unilateral 5
2450 c CHR232 Chromosome 21, Uniparental Disomy 5
2451 P CHR251 Chromosome 5, Uniparental Disomy 5
2452 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
2453 CNG331 Congenital Bilateral Megacalycosis 5
2454 CNG353 Congenital Partial Agenesis of Pericardium 5
2455 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 5
2456 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 5
2457 PRT091 Partial Cryptophthalmia 5
2458 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
2459 20Q002 20q11.2 Microduplication Syndrome 5
2460 ERL042 Early-Onset Partial Cataract 5
2461 UNL012 Unilateral Hemispheric Polymicrogyria 5
2462 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 5
2463 AML036 Amelia of Lower Limb 5
2464 CNG536 Congenital Stenosis or Atresia of the Coronary Ostium 5
2465 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
2466 LWR011 Lower Lip Fistula 5
2467 CNG391 Congenital Pseudoarthrosis of the Limbs 5
2468 P ISL048 Isolated Cerebellar Vermis Agenesis 5
2469 CNG354 Congenital Complete Agenesis of Pericardium 5
2470 UTR055 Uterine Cervical Aplasia and Agenesis 5
2471 AGN009 Agenesis and Aplasia of Uterine Body 5
2472 ISL051 Isolated Partial Cerebellar Vermis Agenesis 5
2473 c ISL052 Isolated Total Cerebellar Vermis Agenesis 5
2474 PRM160 Premature Closure of the Arterial Duct 5
2475 ISL071 Isolated Congenital Ectropion 5
2476 FCL034 Facial Dermoid Cyst 5
2477 MDL017 Madelung Deformity, Bilateral 5
2478 16P011 16p12.1p12.3 Triplication Syndrome 5
2479 TRC084 Tricuspid Valve Agenesis 5
2480 PRS139 Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium 5
2481 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 5
2482 CMM016 Commissural Lip Fistula 5
2483 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
2484 CNG517 Congenital Agenesis of the Scrotum 5
2485 UNL009 Unilateral Congenital Megacalycosis 5
2486 CHR512 Cheirospondyloenchondromatosis 5
2487 DYS128 Dysplasia of Head of Femur, Meyer Type 5
2488 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
2489 ERL027 Early-Onset Non-Syndromic Cataract 5
2490 ISL117 Isolated Congenital Radial Head Dislocation 5
2491 SBC038 Sub-Cortical Nodular Heterotopia 5
2492 c WCR002 Wac-Related Intellectual Disability 5
2493 c WDR002 Wdr26-Related Intellectual Disability 5
2494 c TRR002 Trio-Related Intellectual Disability 5
2495 c FRG006 Fragile X Syndrome Type 3 4
2496 c FRG004 Fragile X Syndrome Type 1 4
2497 P LGB001 Leg Absence Deformity Cataract 4
2498 c FRG005 Fragile X Syndrome Type 2 4
2499 ISL044 Isolated Arhinencephaly 4
2500 ISL106 Isolated Congenital Microcephaly 4
2501 HYP506 Hypoplasia of the Mitral Valve Annulus 4
2502 OPN003 Open Iniencephaly 4
2503 INT219 Intramural Coronary Arterial Course 4
2504 CLS021 Closed Iniencephaly 4
2505 c PTR021 Paternal Uniparental Disomy of Chromosome 21 4
2506 ENC035 Encircling Double Aortic Arch 4
2507 ISL107 Isolated Congenital Syngnathia 4
2508 MCR187 Macrodactyly of Fingers, Bilateral 4
2509 c PTR022 Paternal Uniparental Disomy of Chromosome 7 4
2510 2P1003 2p13.2 Microdeletion Syndrome 4
2511 c PRM147 Primary Megaureter, Adult-Onset Form 4
2512 CNG315 Congenital Vertical Talus, Unilateral 4
2513 CNG316 Congenital Vertical Talus, Bilateral 4
2514 P TSS001 Tessier Number 5 Facial Cleft 4
2515 c MTR079 Maternal Uniparental Disomy of Chromosome 13 4
2516 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
2517 MYB004 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome 4
2518 LWM001 Low Implantation of Placenta 4
2519 4Q2002 4q25 Proximal Deletion Syndrome 4
2520 MCR189 Macrodactyly of Toes, Bilateral 4
2521 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 4
2522 c MTR065 Maternal Uniparental Disomy of Chromosome 21 4
2523 c PTR023 Paternal Uniparental Disomy of Chromosome 13 4
2524 c ARX002 Arx-Related Intellectual Disability 4
2525 c ACS002 Acsl4-Related Intellectual Disability 4
2526 c DDX001 Ddx3x-Related Intellectual Disability 4
2527 PRT109 Partially Involuting Congenital Hemangioma 4
2528 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 4
2529 MTR068 Mitral Valve Agenesis 4
2530 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
2531 MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 4
2532 ISL127 Isolated Blepharochalasis 4
2533 STR076 Straddling and/or Overriding Mitral Valve 4
2534 ISL126 Isolated Iridoschisis 4
2535 ISL132 Isolated Megalopapilla 4
2536 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 4
2537 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 4
2538 ABN010 Abnormal Number of Coronary Ostia 4
2539 CNG360 Congenital Unguarded Mitral Orifice 4
2540 CRN206 Coronary Artery Intramyocardial Course 4
2541 DSC011 Discrete Fibromuscular Subaortic Stenosis 4
2542 CNG361 Congenital Supravalvular Mitral Ring 4
2543 MLP005 Malposition of the Coronary Ostium 4
2544 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 4
2545 CNG270 Congenital Primary Megaureter, Obstructed Form 4
2546 LTH040 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome 4
2547 XLN147 X-Linked Intellectual Disability, Stoll Type 4
2548 PNN004 Pinnae Fistula or Cyst 4
2549 XLN157 X-Linked Intellectual Disability, Porteous Type 4
2550 CNG269 Congenital Primary Megaureter, Refluxing Form 4
2551 ART114 Aortopulmonary Coronary Arterial Course 4
2552 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 4
2553 ANM025 Anomaly of the Mitral Subvalvular Apparatus 4
2554 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 4
2555 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
2556 LPT012 Leptomyelolipoma 4
2557 TRC124 True Congenital Shoulder Dislocation 4
2558 STR075 Straddling or Overriding Tricuspid Valve 4
2559 SPR109 Supratip Dysplasia 4
2560 FRN038 Frontonasal Arteriovenous Malformation 4
2561 ISL035 Isolated Amyelia 4
2562 OVR117 Overgrowth Syndrome with 2q37 Translocation 4
2563 ISL130 Isolated Congenital Entropion 4
2564 SPR139 Superior Celosomia 4
2565 c SYN028 Syngnathia Multiple Anomalies 4
2566 NSL027 Nasal Dorsum Fistula 4
2567 NNT001 Neonatal Infective Mastitis 4
2568 MDN006 Median Cleft of the Upper Lip and Maxilla 3
2569 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 3
2570 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3
2571 c TSS003 Tessier Number 6 Facial Cleft 3
2572 TBL020 Tubular Duplication of the Esophagus 3
2573 CNG322 Congenital Elbow Dislocation, Unilateral 3
2574 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 3
2575 CNG317 Congenital Genu Flexum 3
2576 CNG321 Congenital Elbow Dislocation, Bilateral 3
2577 DPH029 Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome 3
2578 c BMN003 Biemond Syndrome Type 1 3
2579 GLP005 Glioependymal/ependymal Cyst 3
2580 CRV059 Cervicofacial Fibrochondroma 3
2581 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 3
2582 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3
2583 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 3
2584 EMB004 Embryonal Carcinoma 59
2585 PRL032 Perlman Syndrome 43
2586 c WLM018 Wilms Tumor 5 64
2587 c WLM011 Wilms Tumor 6 40
2588 P HRD009 Hereditary Wilms' Tumor 38
2589 c WLM005 Wilms Tumor 2 22
2590 c WLM017 Wilms Tumor 4 19
2591 c WLM015 Wilms Tumor 3 16
2592 c FML094 Familial Wilms Tumor 2 7
2593 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 40
2594 IMM039 Immune Hydrops Fetalis 34
2595 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 13
2596 TST033 Testicular Regression Syndrome 35
2597 P END039 Endodermal Sinus Tumor 47
2598 TRT001 Teratocarcinoma 41
2599 c ADL047 Adult Endodermal Sinus Tumor 9
2600 P LFT003 Left Ventricular Noncompaction 55
2601 P BTR001 Botryoid Rhabdomyosarcoma 40
2602 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 39
2603 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 32
2604 c LFT021 Left Ventricular Noncompaction 1 30
2605 c LFT017 Left Ventricular Noncompaction 8 22
2606 c LFT018 Left Ventricular Noncompaction 10 21
2607 c LFT020 Left Ventricular Noncompaction 7 16
2608 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 14
2609 c LFT011 Left Ventricular Noncompaction 2 13
2610 c ADL031 Adult Botryoid Rhabdomyosarcoma 6
2611 c HYD046 Hydatidiform Mole, Recurrent, 1 57
2612 GRM005 Germ Cell Cancer 53
2613 P RNL028 Renal Tubular Dysgenesis 51
2614 P PRV002 Periventricular Nodular Heterotopia 50
2615 P ENC008 Encephalocele 48
2616 EMB007 Embryonal Sarcoma 47
2617 OST022 Osteopathia Striata with Cranial Sclerosis 45
2618 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 44
2619 SPR008 Supratentorial Primitive Neuroectodermal Tumor 43
2620 GRN013 Greenberg Dysplasia 34
2621 c PRV019 Periventricular Nodular Heterotopia 1 32
2622 c LTH042 Lethal Congenital Contracture Syndrome 10 24
2623 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 24
2624 c PRV018 Periventricular Nodular Heterotopia 7 22
2625 c FLN007 Flna-Related Periventricular Nodular Heterotopia 20
2626 c PRV021 Periventricular Nodular Heterotopia 8 20
2627 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 13
2628 P FTL014 Fetal Brain Disruption Sequence 11
2629 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 8
2630 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
2631 FTL017 Fetal Enterovirus Syndrome 2
2632 WRN001 Werner Syndrome 73
2633 c BTT014 Beta-Thalassemia 72
2634 c MYT021 Myotonic Dystrophy 1 71
2635 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
2636 DWN001 Down Syndrome 71
2637 P TTR001 Tetralogy of Fallot 70
2638 BRT054 Brittle Bone Disorder 70
2639 P CWD010 Cowden Syndrome 68
2640 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68
2641 ACH004 Achondroplasia 68
2642 SCH036 Scheie Syndrome 67
2643 P DYS154 Dystonia 65
2644 P HLP001 Holoprosencephaly 65
2645 P THL005 Thalassemia 65
2646 c MCP001 Mucopolysaccharidosis Iii 63
2647 P BRD002 Bardet-Biedl Syndrome 63
2648 c ATS013 Autosomal Recessive Congenital Ichthyosis 62
2649 P INT068 Intestinal Disease 62
2650 P PRD006 Prader-Willi Syndrome 61
2651 c MCP052 Mucopolysaccharidosis, Type Vi 61
2652 DGR001 Digeorge Syndrome 61
2653 P CMR001 Camurati-Engelmann Disease 61
2654 NRM019 Neuraminidase Deficiency 60
2655 FCL081 Focal Cortical Dysplasia, Type Ii 60
2656 c ALP101 Alpha-Thalassemia 60
2657 MCR013 Microphthalmia 60
2658 BRN056 Bronchopulmonary Dysplasia 60
2659 ELL001 Ellis-Van Creveld Syndrome 60
2660 c BRD014 Bardet-Biedl Syndrome 2 60
2661 SPN060 Spondylocarpotarsal Synostosis Syndrome 59
2662 c PCH015 Pachyonychia Congenita 1 59
2663 ART141 Arteriovenous Malformations of the Brain 59
2664 P DNT020 Dent Disease 1 59
2665 ART001 Arterial Tortuosity Syndrome 59
2666 c MCP004 Mucopolysaccharidosis Iv 59
2667 c BRD010 Bardet-Biedl Syndrome 1 59
2668 c ORF040 Orofaciodigital Syndrome Viii 59
2669 c VSC019 Vesicoureteral Reflux 1 58
2670 PRN019 Perinatal Necrotizing Enterocolitis 58
2671 P OST080 Osteogenesis Imperfecta, Type Ii 58
2672 HYP042 Hypochondroplasia 58
2673 c OST122 Osteogenesis Imperfecta, Type Iii 58
2674 P RNL100 Renal Hypodysplasia/aplasia 1 58
2675 P HYP040 Hypospadias 58
2676 P BCK002 Beckwith-Wiedemann Syndrome 58
2677 c LYS021 Loeys-Dietz Syndrome 3 57
2678 P CRN038 Carney Complex Variant 57
2679 P HYP035 Hypophosphatasia 57
2680 c HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57
2681 PLC005 Placental Insufficiency 57
2682 P WRD001 Waardenburg's Syndrome 57
2683 P SHR029 Short Syndrome 57
2684 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 57
2685 c OST135 Osteogenesis Imperfecta, Type I 57
2686 RTN209 Retinoschisis 1, X-Linked, Juvenile 57
2687 c CNG216 Congenital Hydrocephalus 57
2688 MCN007 Meconium Aspiration Syndrome 57
2689 MCN017 Meconium Ileus 56
2690 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
2691 c MCL046 Mucolipidosis Iii Alpha/beta 56
2692 CLS005 Clouston Syndrome 56
2693 END081 Endosteal Hyperostosis, Autosomal Dominant 56
2694 ODN023 Odontochondrodysplasia 56
2695 c OST164 Osteoporosis, Juvenile 56
2696 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 56
2697 P INT070 Intestinal Obstruction 55
2698 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 55
2699 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 55
2700 c CHR320 Chiari Malformation Type I 55
2701 P PTS002 Ptosis 55
2702 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 54
2703 PPL049 Papillon-Lefevre Syndrome 54
2704 GST009 Gastroschisis 54
2705 P STS008 Sotos Syndrome 1 54
2706 CLB010 Coloboma of Macula 54
2707 P EPD009 Epidermolysis Bullosa Dystrophica 54
2708 PSD012 Pseudoachondroplasia 54
2709 ENC044 Enchondromatosis, Multiple, Ollier Type 54
2710 P NLD001 Nail Disease 54
2711 P BRT029 Brittle Cornea Syndrome 2 54
2712 NLP001 Nail-Patella Syndrome 54
2713 c HYP293 Hypophosphatasia, Adult 54
2714 DNY001 Denys-Drash Syndrome 54
2715 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 54
2716 MLL018 Miller-Dieker Lissencephaly Syndrome 54
2717 CTS003 Coats Disease 54
2718 P INT099 Intrahepatic Cholestasis of Pregnancy 53
2719 HYP691 Hypomelanosis of Ito 53
2720 MYL020 Myelomeningocele 53
2721 c LSS005 Lissencephaly 1 53
2722 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 53
2723 OST044 Osteoglophonic Dysplasia 53
2724 c RNL122 Renal Hypodysplasia/aplasia 3 53
2725 c MCP043 Mucopolysaccharidosis, Type Iiia 52
2726 OST032 Osteofibrous Dysplasia 52
2727 SPR004 Supravalvular Aortic Stenosis 52
2728 DST005 Diastrophic Dysplasia 52