Fetal Diseases Category (5254 diseases)


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

# Family MCID Name MIFTS
1 FTL028 Fetal Retinoid Syndrome 15
2 c LYM144 Lymphatic Malformation 1 48
3 c LYM145 Lymphatic Malformation 5 45
4 c LYM150 Lymphatic Malformation 7 40
5 P PRG092 Pregnancy Loss, Recurrent 1 40
6 P RRL003 Rare Lymphatic Malformation 31
7 c LYM147 Lymphatic Malformation 3 23
8 c LYM148 Lymphatic Malformation 4 22
9 c LYM146 Lymphatic Malformation 2 16
10 P PRM252 Preimplantation Embryonic Lethality 1 21
11 TWN001 Twin-to-Twin Transfusion Syndrome 45
12 NCH001 Nuchal Bleb, Familial 24
13 c RHB023 Rhabdomyosarcoma, Embryonal, 1 43
14 c FTL006 Fetal Alcohol Spectrum Disorder 43
15 EMB006 Embryonal Testis Carcinoma 31
16 PDT006 Pediatric Cns Embryonal Cell Carcinoma 8
17 P EMB005 Embryonal Rhabdomyosarcoma 53
18 FTL004 Fetal Erythroblastosis 31
19 c ADL007 Adult Central Nervous System Embryonal Carcinoma 7
20 c FTL072 Fetal Akinesia Deformation Sequence 4 38
21 c FTL070 Fetal Akinesia Deformation Sequence 2 36
22 c FTL071 Fetal Akinesia Deformation Sequence 3 28
23 FTL066 Fetal Akinesia Syndrome, X-Linked 14
24 FTL011 Fetal Aminopterin Syndrome 11
25 ACT091 Acitretin Embryopathy 7
26 CHL153 Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified 5
27 P PRS062 Persistent Hyperplastic Primary Vitreous 44
28 INT041 Intratubular Embryonal Carcinoma 25
29 c RHB021 Rhabdomyosarcoma, Embryonal, 2 24
30 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 20
31 c PRM251 Preimplantation Embryonic Lethality 2 16
32 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 11
33 c CTR102 Cataract 2, Multiple Types 31
34 ORB002 Orbit Embryonal Rhabdomyosarcoma 30
35 PRS010 Prostate Embryonal Rhabdomyosarcoma 27
36 MTR016 Maternal Hyperphenylalaninemia 19
37 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
38 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 8
39 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 5
40 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 5
41 c RBN018 Robinow Syndrome, Autosomal Dominant 1 51
42 GCH018 Gaucher Disease, Perinatal Lethal 41
43 EMB002 Embryoma 38
44 ALC001 Alcohol-Related Birth Defect 36
45 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 28
46 PRT001 Partial Fetal Alcohol Syndrome 24
47 FTL021 Fetal Macrosomia 42
48 c CTR132 Cataract 3, Multiple Types 41
49 P LTH003 Lethal Congenital Contracture Syndrome 40
50 c NML025 Nemaline Myopathy 8 36
51 c LTH008 Lethal Congenital Contracture Syndrome 2 35
52 c LTH026 Lethal Congenital Contracture Syndrome 4 34
53 c LTH047 Lethal Congenital Contracture Syndrome 3 27
54 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 25
55 c LTH039 Lethal Congenital Contracture Syndrome 11 24
56 c LTH027 Lethal Congenital Contracture Syndrome 5 24
57 c LTH029 Lethal Congenital Contracture Syndrome 9 23
58 c LTH031 Lethal Congenital Contracture Syndrome 6 21
59 PRV001 Parovarian Cyst 21
60 FTL005 Fetal Adenoma 20
61 c SYN073 Syngap1-Related Intellectual Disability 17
62 c BCL018 Bcl11a-Related Intellectual Disability 15
63 CCN012 Cocaine Antenatal Exposure 14
64 NNT022 Neonatal Ovarian Cyst 14
65 c RR2001 Ror2-Related Robinow Syndrome 13
66 c CSK002 Cask-Related Intellectual Disability 13
67 HYD069 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism 11
68 P FTL014 Fetal Brain Disruption Sequence 11
69 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 11
70 c HVP001 Hivep2-Related Intellectual Disability 10
71 c TRR002 Trio-Related Intellectual Disability 10
72 c WCR002 Wac-Related Intellectual Disability 10
73 c WDR002 Wdr26-Related Intellectual Disability 9
74 P RRN017 Rare Intellectual Disability 9
75 c ATS410 Autosomal Dominant Intellectual Disability 49 8
76 c ATS360 Autosomal Recessive Intellectual Disability 58 8
77 CHL030 Childhood Botryoid Rhabdomyosarcoma 8
78 THY113 Thymic Aplasia with Fetal Death 8
79 c PPP001 Ppp2r5d-Related Intellectual Disability 8
80 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 7
81 c ATS403 Autosomal Dominant Intellectual Disability 40 6
82 c ATS348 Autosomal Dominant Intellectual Disability 30 5
83 RRG014 Rare Genetic Developmental Defect During Embryogenesis 5
84 MXD015 Mixed Type Rhabdomyosarcoma 5
85 c SN3001 Sin3a-Related Intellectual Disability Syndrome 5
86 SMT021 Somatomedin, Embryonic 4
87 c ACS002 Acsl4-Related Intellectual Disability 3
88 c ARX002 Arx-Related Intellectual Disability 3
89 c DDX001 Ddx3x-Related Intellectual Disability 3
90 FTL063 Fetal Nicotine Spectrum Disorder 3
91 FTL020 Fetal Left Ventricular Aneurysm 3
92 FTL017 Fetal Enterovirus Syndrome 2
93 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 1
94 FTL027 Fetal Phenothiazine Syndrome 1
95 KPS004 Kaposi Sarcoma 75
96 DWN001 Down Syndrome 70
97 P OST001 Osteopetrosis 70
98 P TRN020 Turner Syndrome 67
99 P CNG001 Congenital Myasthenic Syndrome 66
100 P LYS001 Loeys-Dietz Syndrome 65
101 P CTS001 Cutis Laxa 65
102 RBR001 Roberts Syndrome 64
103 INC021 Incontinentia Pigmenti 63
104 CNT061 Conotruncal Heart Malformations 63
105 P PTT014 Pitt-Hopkins Syndrome 63
106 P ECT006 Ectodermal Dysplasia 62
107 c PRX045 Peroxisome Biogenesis Disorder 1b 61
108 P STS008 Sotos Syndrome 1 61
109 PTN001 Patent Foramen Ovale 60
110 CFF002 Coffin-Lowry Syndrome 60
111 OST024 Osteoporosis-Pseudoglioma Syndrome 60
112 KLP010 Klippel-Trenaunay-Weber Syndrome 59
113 WVR001 Weaver Syndrome 59
114 P PLY006 Polydactyly 59
115 c CLR131 Ciliary Dyskinesia, Primary, 1 59
116 P SYP003 Syphilis 58
117 CSY001 C Syndrome 58
118 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 58
119 NWB001 Newborn Respiratory Distress Syndrome 58
120 P VND007 Van Der Woude Syndrome 1 58
121 MBS002 Moebius Syndrome 57
122 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 57
123 c PRX059 Peroxisome Biogenesis Disorder 1a 56
124 c BRC078 Brachydactyly, Type A1 56
125 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55
126 EBS001 Ebstein Anomaly 55
127 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 55
128 c OST163 Osteopetrosis, Autosomal Recessive 3 55
129 P FNG006 Feingold Syndrome 1 55
130 DXT001 Dextrocardia 55
131 CHR101 Char Syndrome 55
132 CLF004 Cleft Lip/palate 54
133 TRC062 Tricuspid Atresia 54
134 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 54
135 LTR009 Lateral Meningocele Syndrome 53
136 P CRN276 Corneal Endothelial Dystrophy 52
137 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 52
138 P TRT010 Teratoma 52
139 KGM001 Kagami-Ogata Syndrome 51
140 OLG003 Oligohydramnios 51
141 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 51
142 BRN003 Branchiooculofacial Syndrome 51
143 P HYP040 Hypospadias 51
144 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 51
145 CHR005 Chorioamnionitis 51
146 P FRN012 Frontometaphyseal Dysplasia 50
147 c OST126 Osteopetrosis, Autosomal Recessive 1 49
148 CHN065 Choanal Atresia, Posterior 49
149 c VNM003 Van Maldergem Syndrome 1 48
150 PLC007 Placental Abruption 48
151 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 47
152 CLF056 Cleft Lip with or Without Cleft Palate 47
153 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 47
154 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
155 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 47
156 P CRC039 Coarctation of Aorta 47
157 c OPT051 Opitz Gbbb Syndrome, Type I 47
158 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 46
159 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46
160 CHR492 Chromosome 13q14 Deletion Syndrome 46
161 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 46
162 PLY012 Polyhydramnios 46
163 HYP231 Hypothalamic Hamartomas 46
164 CHR543 Chromosome 2q37 Deletion Syndrome 46
165 P PRX021 Proximal Symphalangism 46
166 P PRT042 Parietal Foramina 46
167 PLC001 Placenta Accreta 46
168 c OST137 Osteopetrosis, Autosomal Recessive 4 45
169 ACR012 Aicardi Syndrome 45
170 JNT004 Joint Laxity, Short Stature, and Myopia 45
171 P CMM008 Communicating Hydrocephalus 45
172 c PNT036 Pontocerebellar Hypoplasia, Type 6 45
173 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
174 c XFP001 Xfe Progeroid Syndrome 45
175 c OST120 Osteopetrosis, Autosomal Recessive 5 45
176 ISL121 Isolated Split Hand-Split Foot Malformation 45
177 MLC004 Mulchandani-Bhoj-Conlin Syndrome 44
178 c ATS393 Autosomal Recessive Cutis Laxa Type I 44
179 c OST129 Osteopetrosis, Autosomal Recessive 2 44
180 CTY001 Cat Eye Syndrome 44
181 MCR173 Microform Holoprosencephaly 44
182 NNC002 Nance-Horan Syndrome 44
183 MCR096 Macrocephaly/autism Syndrome 44
184 c RNG023 Ring Chromosome 7 44
185 c ORT011 Orthostatic Hypotension 1 44
186 FNT005 Fontaine Progeroid Syndrome 44
187 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 43
188 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
189 c MLG081 Malignant Teratoma 43
190 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 43
191 LBR025 Lobar Holoprosencephaly 43
192 KPS002 Kaposiform Hemangioendothelioma 43
193 OLV004 Oliver-Mcfarlane Syndrome 43
194 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 43
195 c MNT319 Mental Retardation, Autosomal Dominant 20 42
196 BNB002 Bainbridge-Ropers Syndrome 42
197 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 41
198 c PST041 Posterior Urethral Valves 41
199 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 41
200 c SCN006 Secondary Syphilis 40
201 c FRN049 Frontometaphyseal Dysplasia 1 40
202 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 40
203 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 40
204 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 40
205 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 40
206 c MYS052 Myasthenic Syndrome, Congenital, 10 40
207 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 40
208 c CNG033 Congenital Syphilis 40
209 c MYS078 Myasthenic Syndrome, Congenital, 14 39
210 PLC009 Placenta Praevia 39
211 c CTR130 Cataract 9, Multiple Types 39
212 DXT002 Dextrocardia with Situs Inversus 39
213 48X005 48,xyyy 39
214 THR017 Thoracoabdominal Syndrome 39
215 c MYS075 Myasthenic Syndrome, Congenital, 13 39
216 P MNN007 Meningocele 39
217 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 39
218 CHR518 Chromosome 9p Deletion Syndrome 38
219 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 38
220 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 38
221 c CTS041 Cutis Laxa, Autosomal Dominant 3 38
222 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 38
223 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
224 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 37
225 RVL002 Ruvalcaba Syndrome 37
226 P OMD003 Omodysplasia 37
227 c BNG093 Benign Teratoma 37
228 HMM004 Hamamy Syndrome 37
229 c VNM002 Van Maldergem Syndrome 2 37
230 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37
231 c PRX063 Peroxisome Biogenesis Disorder 2a 36
232 c MYS074 Myasthenic Syndrome, Congenital, 12 36
233 c SCK029 Seckel Syndrome 7 36
234 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 36
235 c MYS056 Myasthenic Syndrome, Congenital, 17 36
236 PLY036 Polyembryoma 36
237 CHR501 Chromosome 17q12 Deletion Syndrome 36
238 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
239 c PRX055 Peroxisome Biogenesis Disorder 11a 36
240 c MYS067 Myasthenic Syndrome, Congenital, 22 36
241 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 35
242 c OST106 Osteopetrosis, Autosomal Recessive 8 35
243 c FRN048 Frontometaphyseal Dysplasia 2 35
244 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 35
245 OCL076 Oculopharyngodistal Myopathy 1 35
246 c RBN020 Robinow Syndrome, Autosomal Dominant 3 35
247 c MYS076 Myasthenic Syndrome, Congenital, 8 35
248 P MXD016 Mixed Gonadal Dysgenesis 35
249 c MNS014 Monosomy 22 35
250 c PRT059 Parietal Foramina 1 34
251 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34
252 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 34
253 c MYS070 Myasthenic Syndrome, Congenital, 19 34
254 c MCR252 Microphthalmia, Syndromic 5 34
255 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 34
256 EMN001 Emanuel Syndrome 34
257 FCL090 Facial Cleft 34
258 c PRX060 Peroxisome Biogenesis Disorder 5a 34
259 c RNG020 Ring Chromosome 4 33
260 c ADL057 Adult Teratoma 33
261 P ACR072 Acrorenal Syndrome 33
262 FLP001 Filippi Syndrome 33
263 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 33
264 ZTT001 Zttk Syndrome 33
265 WTT002 Witteveen-Kolk Syndrome 33
266 c SYM022 Symphalangism, Proximal, 1a 33
267 CHR523 Chromosome 15q11.2 Deletion Syndrome 33
268 c PRX051 Peroxisome Biogenesis Disorder 6a 33
269 PRT049 Partial Deletion of Y 33
270 PRG023 Progeroid Short Stature with Pigmented Nevi 33
271 BRN133 Bronchomalacia 33
272 c BRC099 Brachydactyly, Type A4 32
273 MTP028 Metaphyseal Dysplasia, Spahr Type 32
274 c PRX054 Peroxisome Biogenesis Disorder 12a 32
275 P SCL047 Sclerocornea 32
276 SPN012 Spindle Cell Hemangioma 32
277 c LTC001 Late Congenital Syphilis 32
278 c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 32
279 c MYS064 Myasthenic Syndrome, Congenital, 16 32
280 P EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 32
281 TRC035 Tracheal Agenesis 31
282 c PRX057 Peroxisome Biogenesis Disorder 4a 31
283 c MYS065 Myasthenic Syndrome, Congenital, 18 31
284 48X003 48,xxyy Syndrome 31
285 c SYN060 Syndactyly, Type Iii 31
286 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 31
287 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 31
288 CDL005 Caudal Duplication Anomaly 31
289 OCL033 Oculocerebral Syndrome with Hypopigmentation 31
290 INF021 Infant Gynecomastia 31
291 c RNG008 Ring Chromosome 13 31
292 c PRX048 Peroxisome Biogenesis Disorder 10a 31
293 c PRM022 Primary Syphilis 31
294 c PRT060 Parietal Foramina 2 31
295 c PRX065 Peroxisome Biogenesis Disorder 3a 30
296 c ART131 Arthrogryposis, Distal, Type 4 30
297 ANR010 Aneurysm of Sinus of Valsalva 30
298 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 30
299 PLM058 Pulmonary Atresia with Intact Ventricular Septum 30
300 c SYN061 Syndactyly, Type Iv 30
301 MSC021 Mosaic Trisomy 9 30
302 c RNG018 Ring Chromosome 22 30
303 P MTR051 Maternal Uniparental Disomy of Chromosome 1 30
304 c PRX050 Peroxisome Biogenesis Disorder 9b 30
305 AML065 Amelia 30
306 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 30
307 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
308 DGT009 Digitotalar Dysmorphism 29
309 c PRX046 Peroxisome Biogenesis Disorder 7a 29
310 P VNM004 Van Maldergem Syndrome 29
311 P ACR106 Acrocephalopolysyndactyly Type Iii 29
312 c VNT028 Ventricular Septal Defect 1 29
313 ART158 Arthrogryposis Multiplex Congenita, Myogenic Type 29
314 CNG437 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 29
315 c RNG005 Ring Chromosome 10 29
316 c PRX043 Peroxisome Biogenesis Disorder 6b 29
317 SKR001 Skraban-Deardorff Syndrome 29
318 c HYD040 Hydrolethalus Syndrome 2 29
319 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 29
320 CRN264 Craniosynostosis with Fibular Aplasia 29
321 c CLR134 Ciliary Dyskinesia, Primary, 3 29
322 CHR399 Chromosome 4q21 Deletion Syndrome 29
323 P PRG139 Progeroid Syndrome 28
324 TTR023 Tetraamelia-Multiple Malformations Syndrome 28
325 WLD004 Wildervanck Syndrome 28
326 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 28
327 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 28
328 UVL009 Uvula, Bifid 28
329 NNT005 Neonatal Candidiasis 28
330 CHR229 Chromosome 20p Duplication 28
331 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
332 CHR265 Chromosome 8p Duplication 28
333 c MYS077 Myasthenic Syndrome, Congenital, 15 27
334 c PRX091 Peroxisome Biogenesis Disorder 8a 27
335 c PRX052 Peroxisome Biogenesis Disorder 13a 27
336 P TRS029 Trisomy 1q 27
337 CHR268 Chromosome 8q Duplication 27
338 48X001 48, Xxxx 27
339 CHR588 Chromosome 8q22.1 Duplication Syndrome 27
340 c PRX053 Peroxisome Biogenesis Disorder 14b 27
341 c PRX058 Peroxisome Biogenesis Disorder 4b 27
342 c RNG007 Ring Chromosome 12 27
343 FMR016 Femur-Fibula-Ulna Syndrome 27
344 c PRX047 Peroxisome Biogenesis Disorder 5b 27
345 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 27
346 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 27
347 RCM003 Recombinant Chromosome 8 Syndrome 27
348 CHR010 Chorioangioma 27
349 P ACR093 Acrofrontofacionasal Dysostosis 27
350 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 27
351 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
352 ASS004 Aase-Smith Syndrome I 27
353 MSC016 Mosaic Trisomy 14 26
354 c RNG015 Ring Chromosome 2 26
355 c ORT012 Orthostatic Hypotension 2 26
356 c ACQ029 Acquired Porencephaly 26
357 HYP180 Hypertrichosis Lanuginosa Congenita 26
358 P RCR026 Recurrent Hydatidiform Mole 26
359 HMF010 Hemifacial Microsomia with Radial Defects 26
360 BLP041 Blepharochalasis and Double Lip 26
361 CRT028 Cor Triatriatum 26
362 P PRX064 Peroxisome Biogenesis Disorder 2b 26
363 P PST016 Posterior Polar Cataract 26
364 CDG001 Cdags Syndrome 26
365 PGD001 Pagod Syndrome 26
366 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 26
367 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 26
368 c PRX066 Peroxisome Biogenesis Disorder 3b 26
369 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 26
370 HRD037 Hardikar Syndrome 26
371 PNL023 Penile Agenesis 25
372 c ACQ027 Acquired Cutis Laxa 25
373 CHR212 Chromosome 18p Duplication 25
374 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 25
375 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
376 c PTN012 Patent Ductus Arteriosus 3 25
377 P PRM227 Primary Orthostatic Hypotension 25
378 c TRS012 Trisomy 22 25
379 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 25
380 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 25
381 CMP097 Complex Chromosomal Rearrangement 25
382 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
383 c FNG009 Feingold Syndrome 2 25
384 c PRX062 Peroxisome Biogenesis Disorder 8b 25
385 c PRX056 Peroxisome Biogenesis Disorder 11b 25
386 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 25
387 c ERL002 Early Congenital Syphilis 25
388 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 25
389 CHR252 Chromosome 5p Duplication 24
390 c RNG017 Ring Chromosome 21 24
391 c SYM019 Symphalangism, Proximal, 1b 24
392 c VND004 Van Der Woude Syndrome 2 24
393 MCR067 Microcoria, Congenital 24
394 c CLR090 Ciliary Dyskinesia, Primary, 22 24
395 c PRX068 Peroxisome Biogenesis Disorder 7b 24
396 BCR002 Bicornuate Uterus 24
397 c LTB003 Ltbp4-Related Cutis Laxa 24
398 DFF022 Diffuse Neonatal Hemangiomatosis 24
399 P UNP013 Uniparental Disomy of Chromosome 1 24
400 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
401 INT337 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 23
402 BRN129 Branchial Cleft Anomalies 23
403 ACR101 Acrocraniofacial Dysostosis 23
404 c ACR103 Acrofrontofacionasal Dysostosis 1 23
405 PRT091 Partial Cryptophthalmia 23
406 c ACR105 Acrofrontofacionasal Dysostosis 2 23
407 RGH006 Right Aortic Arch 23
408 ADD006 Adducted Thumbs Syndrome 23
409 P SPN236 Spina Bifida Cystica 23
410 HYP212 Hypomandibular Faciocranial Dysostosis 23
411 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 23
412 FCC002 Faciocardiorenal Syndrome 23
413 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 23
414 P SYN140 Syndrome with 46,xy Disorder of Sex Development 23
415 c EFM001 Efemp2-Related Cutis Laxa 23
416 CMP104 Complete Atrioventricular Septal Defect with Ventricular Hypoplasia 23
417 c HYD041 Hydatidiform Mole, Recurrent, 2 23
418 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 23
419 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 23
420 SCH031 Scholte Syndrome 22
421 TTR021 Tetrasomy 21 22
422 SYM024 Symphalangism, Distal 22
423 c INT005 Intermediate Malignant Teratoma 22
424 2Q3005 2q31.1 Microdeletion Syndrome 22
425 PLY135 Polydactyly, Postaxial, with Progressive Myopia 22
426 8PN001 8p Inverted Duplication/deletion Syndrome 22
427 c PTN013 Patent Ductus Arteriosus 2 22
428 HFN001 Hao-Fountain Syndrome 22
429 LMB014 Limb-Body Wall Complex 22
430 INT231 Intellectual Disability - Athetosis - Microphthalmia 22
431 c OST171 Osteopetrosis, Autosomal Dominant 3 21
432 ORB019 Orbital Margin, Hypoplasia of 21
433 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 21
434 MSM019 Mesomelic Dysplasia, Savarirayan Type 21
435 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 21
436 MSL005 Mseleni Joint Disease 21
437 c PLY137 Polydactyly, Preaxial Iii 21
438 ACR019 Acropectoral Syndrome 21
439 c PSD047 Pseudo-Turner Syndrome 21
440 c ANT087 Anterior Segment Dysgenesis 6 21
441 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 21
442 MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 21
443 ULN005 Ulna and Fibula, Hypoplasia of 21
444 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
445 XQ2003 Xq25 Duplication Syndrome 21
446 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 21
447 CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 21
448 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 21
449 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 21
450 CRN076 Crane-Heise Syndrome 20
451 PLM116 Pulmonary Artery Hypoplasia 20
452 ANM074 Anomalous Origin of Coronary Artery from the Pulmonary Artery 20
453 ECT085 Ectopia Cordis 20
454 CRT061 Cor Triatriatum Dexter 20
455 DST037 Distal Monosomy 9p 20
456 c MNS011 Monosomy 9q22.3 20
457 DPL007 Duplication of Urethra 20
458 DST044 Distal Trisomy 14q 20
459 c PRX089 Peroxisome Biogenesis Disorder 10b 20
460 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
461 c RNG012 Ring Chromosome 17 19
462 SBR011 Subaortic Stenosis--Short Stature Syndrome 19
463 c ATS454 Autosomal Trisomy 19
464 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 19
465 P CNG070 Congenital Dislocation of the Patella 19
466 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 19
467 CHR182 Chromosome 10p Duplication 19
468 SMM003 Summitt Syndrome 19
469 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 19
470 19P001 19p13.12 Microdeletion Syndrome 19
471 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 19
472 PLD002 Pilodental Dysplasia with Refractive Errors 19
473 NSL017 Nasolacrimal Duct Cyst 19
474 MLT148 Multiple Pterygium Syndrome, X-Linked 19
475 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 19
476 c RNG006 Ring Chromosome 11 19
477 c ACR108 Acrocephalopolysyndactyly Type Iv 19
478 DST045 Distal Trisomy 6p 19
479 c FBL003 Fbln5-Related Cutis Laxa 19
480 c STS009 Sotos Syndrome 3 18
481 CRV063 Cervical Spina Bifida Aperta 18
482 NSL020 Nasal Glial Heterotopia 18
483 MSC019 Mosaic Trisomy 7 18
484 SCL051 Scalp Defects and Postaxial Polydactyly 18
485 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 18
486 KNS006 Kniest-Like Dysplasia, Lethal 18
487 c UNP012 Uniparental Disomy of Chromosome 7 18
488 MSC081 Mosaic Trisomy 15 18
489 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 18
490 ORM001 Oro-Mandibular-Limb Hypogenesis Syndrome 18
491 CNG284 Congenital Pseudoarthrosis of the Tibia 18
492 NNR005 Non-Rhizomelic Chondrodysplasia Punctata 18
493 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 18
494 c ECT114 Ectodermal Dysplasia 10b 18
495 MCD004 Macdermot-Winter Syndrome 18
496 21Q001 21q22.11q22.12 Microdeletion Syndrome 18
497 c ERL044 Early-Onset Posterior Polar Cataract 18
498 BLT023 Bilateral Acute Depigmentation of the Iris 18
499 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 18
500 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 18
501 FRY007 Fryns Macrocephaly 18
502 CRN224 Craniofaciofrontodigital Syndrome 18
503 PLY088 Polyvalvular Heart Disease Syndrome 18
504 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 18
505 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 18
506 INV022 Inverted Duplicated Chromosome 15 Syndrome 18
507 FCL064 Facial Dysmorphism with Multiple Malformations 17
508 PLY133 Polysyndactyly with Cardiac Malformation 17
509 EPB002 Epiblepharon 17
510 c MTR062 Maternal Uniparental Disomy of Chromosome 4 17
511 CXR001 Coxoauricular Syndrome 17
512 DYS180 Dyschondrosteosis and Nephritis 17
513 c SYN040 Synpolydactyly 3 17
514 1QD001 1q Duplications 17
515 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 17
516 ABS016 Absence of the Pulmonary Artery 17
517 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 17
518 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 17
519 c TTL009 Total Spina Bifida Aperta 17
520 CNG108 Congenital Mitral Stenosis 17
521 PLM067 Pulmonary Valves Agenesis 17
522 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 17
523 c PST077 Posterior Meningocele 17
524 DST069 Distal Monosomy 12q 17
525 THR033 Thoracomelic Dysplasia 17
526 SXC007 Sex-Chromosome Anomaly 17
527 c MTR063 Maternal Uniparental Disomy of Chromosome 2 17
528 SPN353 Spondylometaphyseal Dysplasia, X-Linked 17
529 KMM002 Kommerell Diverticulum 16
530 c MTR061 Maternal Uniparental Disomy of Chromosome 6 16
531 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 16
532 TRS011 Trisomy 2 Mosaicism 16
533 14Q001 14q12 Microdeletion Syndrome 16
534 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 16
535 DYS049 Dysplastic Cortical Hyperostosis 16
536 CRV066 Cervical Aortic Arch 16
537 PLM065 Pulmonary Supravalvular Stenosis 16
538 PRN057 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations 16
539 MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 16
540 c UNP011 Uniparental Disomy of Chromosome 14 16
541 ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 16
542 c HYD068 Hydatidiform Mole, Recurrent, 4 16
543 PTN009 Patent Urachus 16
544 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 16
545 CLD006 Cleidorhizomelic Syndrome 16
546 49X005 49, Xxxyy Syndrome 16
547 CMP016 Camptobrachydactyly 16
548 c PST093 Posterior Hypospadias 16
549 c PRT113 Parietal Foramina 3 16
550 LRS009 Larsen-Like Syndrome, Lethal Type 16
551 MRF018 Marfanoid Habitus with Microcephaly and Glomerulonephritis 16
552 NNS061 Non-Syndromic Pontocerebellar Hypoplasia 16
553 6Q1002 6q16 Microdeletion Syndrome 16
554 c ISC010 Isochromosome Yp 16
555 c CHR180 Chromosome 10, Uniparental Disomy 16
556 8P1001 8p11.2 Deletion Syndrome 15
557 c CNT108 Central Polydactyly 15
558 11Q001 11q22.2q22.3 Microdeletion Syndrome 15
559 20P002 20p13 Microdeletion Syndrome 15
560 XP2002 Xp22.13p22.2 Duplication Syndrome 15
561 MDL016 Midline Cervical Cleft 15
562 TRM028 Terminal Transverse Limb Defect 15
563 5Q3002 5q31.3 Microdeletion Syndrome 15
564 CYS047 Cystic Fibrosis, Modifier of, 1 15
565 c HYD070 Hydrocephalus, Congenital Communicating, 1 15
566 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 15
567 DST038 Distal Monosomy 7q36 15
568 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 15
569 49X004 49,xyyyy Syndrome 15
570 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 15
571 20P001 20p12.3 Microdeletion Syndrome 15
572 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 15
573 c UNP008 Uniparental Disomy of Chromosome 15 15
574 c RNG031 Ring Chromosome Y Syndrome 15
575 CNS012 Cono-Spondylar Dysplasia 15
576 P ISL029 Isolated Anorectal Malformation 15
577 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 15
578 ESP040 Esophageal Duplication Cyst 15
579 c CLC009 Clcn7-Related Osteopetrosis 15
580 c SX2003 Six2-Related Frontonasal Dysplasia 15
581 TRN046 Transverse Vaginal Septum 15
582 PHK006 Phakomatosis Pigmentokeratotica 14
583 c UNP007 Uniparental Disomy of Chromosome 6 14
584 6P2001 6p22 Microdeletion Syndrome 14
585 16P011 16p12.1p12.3 Triplication Syndrome 14
586 PRT161 Partial Deletion of the Short Arm of Chromosome 3 14
587 19P003 19p13.3 Microduplication Syndrome 14
588 CMP103 Complete Atrioventricular Septal Defect-Tetralogy of Fallot 14
589 PSD091 Pseudounicornuate Uterus 14
590 MNS013 Monosomy 13q34 14
591 c HYP545 Hypospadias 3, Autosomal 14
592 c MTR060 Maternal Uniparental Disomy of Chromosome 9 14
593 HLL014 Hallux Varus and Preaxial Polysyndactyly 14
594 MSC078 Mosaic Trisomy 17 14
595 PRS111 Persistent Fifth Aortic Arch 14
596 PST111 Posterior Fossa Malformation 14
597 16P005 16p11.2p12.2 Microduplication Syndrome 14
598 PRT165 Partial Deletion of the Short Arm of Chromosome 7 14
599 20Q001 20q13.33 Microdeletion Syndrome 14
600 FRT004 Fourth Branchial Cleft Anomaly 13
601 10Q002 10q22.3q23.3 Microduplication Syndrome 13
602 P LRY049 Laryngotracheoesophageal Cleft Type 4 13
603 RCT033 Rectal Duplication 13
604 PRM238 Primary Intralymphatic Angioendothelioma 13
605 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 13
606 c CHN027 Chondrodysplasia Lethal Recessive 13
607 ATL016 Atelencephaly 13
608 CHR188 Chromosome 11q Duplication 13
609 c ACR115 Acrorenal Syndrome, Autosomal Recessive 13
610 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 13
611 NND003 Non-Distal Trisomy 10q 13
612 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 13
613 CNG241 Congenital Laryngeal Palsy 13
614 CRN087 Craniomicromelic Syndrome 13
615 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 13
616 P ANT062 Anterior Urethral Valve 13
617 PRT087 Parietal Encephalocele 13
618 DST052 Distal 7q11.23 Microduplication Syndrome 13
619 BLT009 Bilateral Generalized Polymicrogyria 13
620 CRN310 Cranial Malformation 13
621 DST079 Distal Trisomy 5q 13
622 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 13
623 c UNP003 Uniparental Disomy of Chromosome 11 12
624 CNG587 Congenital Limb Malformation 12
625 CNG519 Congenital Gerbode Defect 12
626 PRC041 Pericardial and Diaphragmatic Defect 12
627 MTR084 Maternal Hyperthermia-Induced Birth Defects 12
628 XSM001 X Small Rings 12
629 9Q3001 9q31.1q31.3 Microdeletion Syndrome 12
630 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 12
631 c CNG253 Congenital Communicating Hydrocephalus 12
632 CNG235 Congenital Microgastria 12
633 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 12
634 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 12
635 c TRS033 Trisomy 18-Like Syndrome 12
636 LTR017 Lateral Facial Cleft 12
637 ANN018 Anonychia, Total, with Microcephaly 12
638 c CRN068 Corneal Endothelial Dystrophy Type 2 12
639 IDP062 Idiopathic Syringomyelia 12
640 CNG335 Congenital Ectropion Uveae 12
641 CLF040 Cleft Lip-Retinopathy Syndrome 12
642 ANM075 Anomalous Aortic Origin of Coronary Artery 12
643 MSC090 Mosaic Trisomy 3 12
644 LFT022 Left Sided Atrial Isomerism 12
645 ERL036 Early-Onset Posterior Subcapsular Cataract 12
646 DST071 Distal Monosomy 19p13.3 12
647 SXC004 Sex Chromosome Disorder of Sex Development 12
648 MND008 Mandibular Arteriovenous Malformation 12
649 LWR017 Lower Limb Malformation-Hypospadias Syndrome 12
650 ACH028 Acheiria 12
651 c SCL053 Sclerocornea, Autosomal Dominant 12
652 PRT213 Partial Duplication of Chromosome 19 12
653 UNL006 Unilateral Focal Polymicrogyria 12
654 HYP852 Hypocalcemic Rickets 12
655 CRN194 Cranial Meningocele 11
656 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 11
657 CNG282 Congenital Knee Dislocation 11
658 XLN142 X-Linked Intellectual Disability, Stevenson Type 11
659 MGC005 Megacystis-Megaureter Syndrome 11
660 c UNP004 Uniparental Disomy of Chromosome 2 11
661 TNN014 Tunnel Subaortic Stenosis 11
662 PRT200 Partial Duplication of the Long Arm of Chromosome 2 11
663 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 11
664 DPL010 Duplication of the Esophagus 11
665 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 11
666 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 11
667 c ZYG005 Zygodactyly Type 4 10
668 ABN012 Abnormal Origin of Right or Left Pulmonary Artery from the Aorta 10
669 PRT215 Partial Duplication of the Short Arm of Chromosome 2 10
670 CNG279 Congenital Pseudoarthrosis of the Ulna 10
671 CNG277 Congenital Pseudoarthrosis of the Fibula 10
672 ISL154 Isolated Exencephaly 10
673 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 10
674 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 10
675 PRT204 Partial Duplication of the Long Arm of Chromosome 4 10
676 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 10
677 LWR014 Lower Limb Hypertrophy 10
678 PRT111 Partial Septate Uterus 10
679 c ATS065 Autosomal Dominant Coarctation of Aorta 10
680 PRT144 Partial Deletion of Chromosome 2 10
681 c PTR015 Paternal Uniparental Disomy of Chromosome X 10
682 PRT160 Partial Deletion of the Short Arm of Chromosome 4 10
683 PRM302 Paramedian Facial Cleft 10
684 c PTL011 Patella, Familial Recurrent Dislocation of 10
685 c CHR232 Chromosome 21, Uniparental Disomy 10
686 4P1001 4p16.3 Microduplication Syndrome 10
687 c ERL039 Early-Onset Anterior Polar Cataract 10
688 DST089 Distal Trisomy 3p 10
689 XLN147 X-Linked Intellectual Disability, Stoll Type 10
690 MLH001 Melhem Fahl Syndrome 10
691 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 10
692 DST078 Distal Trisomy 6q 10
693 c PTR019 Paternal Uniparental Disomy of Chromosome 5 9
694 ART161 Aortic Malformation 9
695 BLR023 Biliary Atresia with Splenic Malformation Syndrome 9
696 P PRT196 Partial Trisomy of the Long Arm of Chromosome 16 9
697 APD003 Apodia 9
698 SYN148 Syndromic Aniridia 9
699 PRT162 Partial Deletion of the Short Arm of Chromosome 6 9
700 FBL017 Fibular Dimelia-Diplopodia Syndrome 9
701 c CHR201 Chromosome 16, Uniparental Disomy 9
702 PRT153 Partial Deletion of Chromosome 11 9
703 DGS007 Digestive Duplication 9
704 HMR042 Humero-Ulnar Synostosis 9
705 c MTR064 Maternal Uniparental Disomy of Chromosome 22 9
706 c UNP010 Uniparental Disomy of Chromosome 13 9
707 P PRT183 Partial Monosomy of the Long Arm of Chromosome 10 9
708 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 9
709 PRT202 Partial Duplication of the Long Arm of Chromosome 6 9
710 CNG327 Congenital Epstein-Barr Virus Infection 9
711 MLT171 Multiple Epiphyseal Dysplasia and Pseudoachondroplasia 9
712 PRT154 Partial Deletion of Chromosome 18 9
713 PRT207 Partial Duplication of the Short Arm of Chromosome 7 9
714 DVL026 Developmental Defect of the Eye 9
715 PRT171 Partial Deletion of the Short Arm of Chromosome 18 9
716 ECT107 Ectasia of the Left Atrial Appendage 9
717 c UNP009 Uniparental Disomy of Chromosome 20 9
718 OMP003 Omphalomesenteric Cyst 8
719 c ISC013 Isochromosomy Yq 8
720 PRN048 Prenatal Benign Hypophosphatasia 8
721 PRT203 Partial Duplication of the Long Arm of Chromosome 7 8
722 PRT241 Partial Deletion of the Long Arm of Chromosome 20 8
723 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 8
724 PRT231 Partial Duplication of Chromosome 4 8
725 DGS009 Digestive Tract Malformation 8
726 PRT166 Partial Deletion of the Short Arm of Chromosome 10 8
727 PRT174 Partial Deletion of the Long Arm of Chromosome 1 8
728 PRT181 Partial Deletion of the Long Arm of Chromosome 8 8
729 PRT208 Partial Duplication of the Short Arm of Chromosome 8 8
730 PRT239 Partial Deletion of the Long Arm of Chromosome 18 8
731 DST090 Distal Trisomy 2p 8
732 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 8
733 PRT230 Partial Duplication of Chromosome 3 8
734 c PRT190 Partial Trisomy of the Long Arm of Chromosome 18 8
735 NNS055 Non-Syndromic Preaxial Polydactyly 8
736 ISL022 Isolated Congenital Nasal Pyriform Aperture Stenosis 8
737 ISL028 Isolated Cerebellar Vermis Hypoplasia 8
738 PRT152 Partial Deletion of Chromosome 10 8
739 PRT199 Partial Duplication of the Long Arm of Chromosome 13 8
740 PRT238 Partial Deletion of the Long Arm of Chromosome 17 8
741 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 8
742 SVR046 Severe Lateral Tibial Bowing with Short Stature 8
743 AML037 Amelia of Upper Limb 8
744 DST087 Distal Trisomy 7p 8
745 CRN208 Coronary Sinus Atresia 7
746 PRT234 Partial Duplication of Chromosome 7 7
747 IDP088 Idiopathic Isolated Micropenis 7
748 MXL013 Maxillary Arteriovenous Malformation 7
749 P ISC012 Isochromosome Y 7
750 DST084 Distal Trisomy 8q 7
751 NNS059 Non-Syndromic Limb Reduction Defect 7
752 PRT235 Partial Deletion of the Long Arm of Chromosome 14 7
753 ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 7
754 UNC003 Unicervical Bicornuate Uterus 7
755 PRT149 Partial Deletion of Chromosome 7 7
756 PRT175 Partial Deletion of the Long Arm of Chromosome 2 7
757 PRT217 Partial Duplication of the Short Arm of Chromosome 4 7
758 PRT223 Partial Duplication of Chromosome 11 7
759 TRG018 Trigonocephaly-Broad Thumbs Syndrome 7
760 c CNG476 Congenital Systemic Arteriovenous Fistula 7
761 CNG287 Congenital Absence of Both Forearm and Hand 7
762 ATR096 Atrioventricular Valve Anomaly 7
763 PRT216 Partial Trisomy of Chromosome 20 7
764 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 7
765 PRT244 Partial Deletion of the Short Arm of Chromosome 12 7
766 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 7
767 CNG610 Congenital Hypoplasia of Thumb 7
768 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 7
769 CNG107 Congenital Mitral Malformation 6
770 P TSS001 Tessier Number 5 Facial Cleft 6
771 ECS003 Eec Syndrome and Related Disorders 6
772 KRS001 Krauss Herman Holmes Syndrome 6
773 PRT150 Partial Deletion of the Long Arm of Chromosome 12 6
774 PRT242 Partial Deletion of the Long Arm of Chromosome 21 6
775 CNG259 Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation 6
776 INT355 Intercalary Limb Defects 6
777 12Q001 12q15q21.1 Microdeletion Syndrome 6
778 ISL153 Isolated Congenital Aglossia 6
779 DST075 Distal Trisomy 16q 6
780 LPT012 Leptomyelolipoma 6
781 ECT057 Ectasia of the Right Atrial Appendage 6
782 HYP850 Hypoglossia/aglossia 6
783 ATY043 Atypical Norrie Disease Due to Xp11.3 Microdeletion 6
784 PRT191 Partial Duplication of the Long Arm of Chromosome 17 6
785 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
786 DST088 Distal Trisomy 1p36 6
787 c CHR179 Chromosome 1, Uniparental Disomy 1q12 Q21 5
788 CRN073 Coronary Arteries Congenital Malformation 5
789 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 5
790 EXT043 External Auditory Canal Aplasia/hypoplasia 5
791 PRT141 Partial Deletion of Chromosome 1 5
792 PRT147 Partial Deletion of Chromosome 9 5
793 PRT158 Partial Deletion of the Short Arm of Chromosome 2 5
794 PRT168 Partial Deletion of the Short Arm of Chromosome 16 5
795 PRT211 Partial Duplication of the Short Arm of Chromosome 11 5
796 EXT047 Extralobar Congenital Pulmonary Sequestration 5
797 RDL020 Radio-Ulnar Synostosis, Bilateral 5
798 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 5
799 TRC084 Tricuspid Valve Agenesis 5
800 DST066 Distal Monosomy 20q 5
801 LNS008 Lens Position Anomaly 5
802 CNG602 Congenital Anomaly of the Great Arteries 5
803 PRS138 Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium 5
804 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 5
805 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
806 3Q2005 3q26q27 Microdeletion Syndrome 5
807 SYN096 Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication 5
808 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 5
809 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 5
810 PRT249 Partial Autosomal Monosomy 5
811 c PTR020 Paternal Uniparental Disomy of Chromosome 20 5
812 PRT195 Partial Duplication of the Long Arm of Chromosome 8 5
813 PRT227 Partial Deletion of the Long Arm of Chromosome 22 5
814 GLB027 Global Cerebellar Malformation 5
815 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 5
816 SYN118 Syndrome with Limb Reduction Defects 5
817 DST070 Distal Monosomy 4q 5
818 DST073 Distal Monosomy 7p 5
819 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 5
820 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
821 NNT001 Neonatal Infective Mastitis 5
822 SYN097 Syndromic Urogenital Tract Malformation 5
823 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 5
824 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 5
825 c CHR251 Chromosome 5, Uniparental Disomy 4
826 CLS021 Closed Iniencephaly 4
827 SYN168 Syndrome with a Cerebellar Malformation As a Major Feature 4
828 LWM001 Low Implantation of Placenta 4
829 PRT142 Partial Deletion of Chromosome 4 4
830 PRT157 Partial Deletion of Chromosome 19 4
831 CNG577 Congenital Deformities of Limbs 4
832 CNG316 Congenital Vertical Talus, Bilateral 4
833 MCR188 Macrodactyly of Fingers, Unilateral 4
834 MCR190 Macrodactyly of Toes, Unilateral 4
835 CDL007 Caudal Regression-Sirenomelia Spectrum 4
836 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
837 RSP024 Respiratory or Mediastinal Malformation 4
838 NND007 Non-Distal Monosomy 12q 4
839 MLT174 Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome 4
840 MLT175 Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability 4
841 c TTL014 Total Autosomal Monosomy 4
842 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
843 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
844 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
845 NSL027 Nasal Dorsum Fistula 4
846 PNN004 Pinnae Fistula or Cyst 4
847 c PRT188 Partial Trisomy of the Long Arm of Chromosome 20 4
848 PRT210 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 4
849 PRT220 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 4
850 ISL035 Isolated Amyelia 4
851 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 4
852 ISL051 Isolated Partial Cerebellar Vermis Agenesis 4
853 c ISL052 Isolated Total Cerebellar Vermis Agenesis 4
854 ABN008 Abnormal Origin of the Pulmonary Artery 4
855 CNG270 Congenital Primary Megaureter, Obstructed Form 4
856 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
857 CNG569 Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature 4
858 PRT247 Partial Duplication of the Short Arm of Chromosome 19 4
859 ISL126 Isolated Iridoschisis 4
860 CNG331 Congenital Bilateral Megacalycosis 4
861 DPH030 Diaphragmatic or Abdominal Wall Malformation 4
862 DYS209 Dysostosis with Predominant Vertebral and Costal Involvement 4
863 XLN157 X-Linked Intellectual Disability, Porteous Type 4
864 MLP009 Malposition of a Coronary Ostium 4
865 MCR377 Microblepharon-Ablephara Syndrome 4
866 LNS009 Lens Size Anomaly 4
867 MLF008 Malformation of the Cerebellar Hemispheres 4
868 SBC038 Sub-Cortical Nodular Heterotopia 4
869 CNG606 Congenital Aortic Valve Dysplasia 4
870 MDN006 Median Cleft of the Upper Lip and Maxilla 4
871 PRT233 Partial Duplication of Chromosome 6 4
872 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 4
873 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 4
874 CNG315 Congenital Vertical Talus, Unilateral 4
875 MCR189 Macrodactyly of Toes, Bilateral 4
876 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
877 c PTR021 Paternal Uniparental Disomy of Chromosome 21 4
878 c INT350 Intermediate Isolated Anorectal Malformation 3
879 P 46X065 46,xy Disorder of Gonadal Development 3
880 DYS202 Dysostosis with Limb Anomaly As a Major Feature 3
881 DYS203 Dysostosis with Combined Reduction Defects of Upper and Lower Limbs 3
882 OVR117 Overgrowth Syndrome with 2q37 Translocation 3
883 CMP099 Complete Hemimelia 3
884 SYN130 Syndromic Lacrimal System Disorder 3
885 ART160 Arterial Duct Anomaly 3
886 STR076 Straddling and/or Overriding Mitral Valve 3
887 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 3
888 MTR068 Mitral Valve Agenesis 3
889 ANM025 Anomaly of the Mitral Subvalvular Apparatus 3
890 PRR036 Pierre Robin Syndrome Associated with Collagen Disease 3
891 PRR039 Pierre Robin Syndrome Associated with Branchial Archs Anomalies 3
892 PRL049 Paralytic Facial Malformation 3
893 P YCH005 Y Chromosome Number Anomaly 3
894 PRT214 Partial Trisomy/tetrasomy of Chromosome 18 3
895 CNG317 Congenital Genu Flexum 3
896 CNG322 Congenital Elbow Dislocation, Unilateral 3
897 ISL152 Isolated Congenital Hypoglossia 3
898 ATS455 Autosomal Uniparental Disomy 3
899 SXC005 Sex-Chromosome Number Anomaly 3
900 NNS062 Non-Syndromic Limb Malformation 3
901 NNS065 Non-Syndromic Diaphragmatic or Abdominal Wall Malformation 3
902 SYN161 Syndromic Visceral Malformation 3
903 NNS049 Non-Syndromic Uterovaginal Malformation 3
904 GLP005 Glioependymal/ependymal Cyst 3
905 c 46X067 46,xx Disorder of Gonadal Development 3
906 ANM078 Anomaly of the Coronary Ostia 3
907 PLM194 Pulmonary Artery or Pulmonary Branch Anomaly 3
908 P LGB001 Leg Absence Deformity Cataract 2
909 NNS050 Non-Syndromic Urogenital Tract Malformation of Female 2
910 PLY186 Polysomy of X Chromosome 2
911 XCH003 X Chromosome Number Anomaly with Female Phenotype 2
912 NNS053 Non Syndromic Limb Overgrowth 2
913 PRT248 Partial Autosomal Trisomy/tetrasomy 2
914 NNS066 Non-Syndromic Visceral Malformation 2
915 EMB004 Embryonal Carcinoma 56
916 c WLM018 Wilms Tumor 5 61
917 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 45
918 CHL043 Childhood Embryonal Testis Carcinoma 8
919 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 28
920 P CNT003 Central Nervous System Embryonal Carcinoma 10
921 OVR050 Ovarian Embryonal Carcinoma 35
922 CHL026 Childhood Ovarian Embryonal Carcinoma 8
923 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 24
924 GRM001 Germ Cell and Embryonal Cancer 29
925 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 15
926 c WLM013 Wilms Tumor 1 65
927 P EPN001 Ependymoblastoma 44
928 c WLM011 Wilms Tumor 6 37
929 P HRD009 Hereditary Wilms' Tumor 29
930 c WLM005 Wilms Tumor 2 28
931 c WLM017 Wilms Tumor 4 19
932 c WLM015 Wilms Tumor 3 18
933 c ADL045 Adult Ependymoblastoma 14
934 c FML094 Familial Wilms Tumor 2 9
935 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
936 TRT001 Teratocarcinoma 45
937 P END039 Endodermal Sinus Tumor 44
938 c ADL047 Adult Endodermal Sinus Tumor 8
939 P LFT003 Left Ventricular Noncompaction 54
940 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 44
941 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 39
942 c LFT021 Left Ventricular Noncompaction 1 35
943 P BTR001 Botryoid Rhabdomyosarcoma 35
944 c LFT017 Left Ventricular Noncompaction 8 28
945 c LFT018 Left Ventricular Noncompaction 10 26
946 c LFT020 Left Ventricular Noncompaction 7 20
947 c LFT011 Left Ventricular Noncompaction 2 18
948 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 16
949 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
950 c HYD046 Hydatidiform Mole, Recurrent, 1 59
951 GRM005 Germ Cell Cancer 47
952 SPR008 Supratentorial Primitive Neuroectodermal Tumor 43
953 EMB007 Embryonal Sarcoma 41
954 CNT115 Central Nervous System Embryonal Tumor 23
955 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 22
956 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 20
957 FTL048 Fetal Lung Interstitial Tumor 14
958 EMB017 Embryonal Tumor of Neuroepithelial Tissue 3
959 P OST002 Osteoporosis 74
960 SCH036 Scheie Syndrome 72
961 P FML011 Familial Adenomatous Polyposis 72
962 CNT097 Central Hypoventilation Syndrome, Congenital 71
963 LPD012 Lipoid Congenital Adrenal Hyperplasia 70
964 APR006 Apert Syndrome 70
965 P CRD224 Cardiofaciocutaneous Syndrome 1 70
966 P JVN014 Juvenile Polyposis Syndrome 68
967 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
968 c MCP052 Mucopolysaccharidosis, Type Vi 67
969 P HLP001 Holoprosencephaly 67
970 STH001 Saethre-Chotzen Syndrome 67
971 P MLG056 Malignant Hyperthermia 67
972 c FML346 Familial Adenomatous Polyposis 1 66
973 P ART005 Arteriovenous Malformation 65
974 P MCK013 Meckel Syndrome, Type 1 65
975 P HRP006 Herpes Simplex 65
976 c MCP001 Mucopolysaccharidosis Iii 65
977 HJD001 Hajdu-Cheney Syndrome 64
978 HLT001 Holt-Oram Syndrome 63
979 NNN026 Noonan Syndrome with Multiple Lentigines 62
980 OCC006 Occipital Horn Syndrome 60
981 P CMR001 Camurati-Engelmann Disease 59
982 P SPN309 Spinocerebellar Ataxia 6 59
983 MYP136 Myopathy, Centronuclear, X-Linked 59
984 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 59
985 c SPN301 Spinocerebellar Ataxia 2 58
986 P INT070 Intestinal Obstruction 58
987 SPR004 Supravalvular Aortic Stenosis 58
988 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 58
989 BRN056 Bronchopulmonary Dysplasia 57
990 PLM070 Pulmonic Stenosis 57
991 CRN005 Craniofrontonasal Syndrome 57
992 c MYS051 Myasthenic Syndrome, Congenital, 5 57
993 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 57
994 c HYP292 Hypophosphatasia, Infantile 57
995 c INT072 Intestinal Pseudo-Obstruction 56
996 P MTC069 Mitochondrial Disorders 56
997 P PSD015 Pseudohypoparathyroidism 56
998 PPL025 Popliteal Pterygium Syndrome 56
999 c MCR256 Microphthalmia, Syndromic 9 56
1000 PYC001 Pycnodysostosis 56
1001 MCN007 Meconium Aspiration Syndrome 55
1002 P MRG008 Meier-Gorlin Syndrome 1 55
1003 P ATR001 Atrioventricular Septal Defect 55
1004 CNN011 Cenani-Lenz Syndactyly Syndrome 55
1005 P AML002 Amelogenesis Imperfecta 55
1006 MWT001 Mowat-Wilson Syndrome 54
1007 RST011 Restrictive Dermopathy, Lethal 54
1008 c AML044 Amelogenesis Imperfecta, Type Ig 54
1009 c RBN022 Robinow Syndrome, Autosomal Recessive 1 54
1010 c SPN294 Spinocerebellar Ataxia 1 53
1011 GST009 Gastroschisis 53
1012 c LTH007 Lethal Congenital Contracture Syndrome 1 53
1013 c OST164 Osteoporosis, Juvenile 53
1014 c HLP023 Holoprosencephaly 1 53
1015 P PTS002 Ptosis 53
1016 NNT012 Neonatal Jaundice 53
1017 MLB001 Mulibrey Nanism 53
1018 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 53
1019 FRY006 Fryns Microphthalmia Syndrome 52
1020 CLB010 Coloboma of Macula 52
1021 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 52
1022 c HYP293 Hypophosphatasia, Adult 52
1023 c ACH041 Achondrogenesis, Type Ii 52
1024 c SPN291 Spinocerebellar Ataxia 7 52
1025 c LKD019 Leukodystrophy, Hypomyelinating, 6 52
1026 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 52
1027 STV003 Stuve-Wiedemann Syndrome 51
1028 JCK001 Jackson-Weiss Syndrome 51
1029 WYR002 Weyers Acrofacial Dysostosis 51
1030 NRL002 Neurilemmomatosis 51
1031 MLL018 Miller-Dieker Lissencephaly Syndrome 51
1032 c BRC051 Brachydactyly, Type B1 51
1033 c SPN296 Spinocerebellar Ataxia 17 51
1034 P OVR082 Overgrowth Syndrome 50
1035 P MTR003 Mitral Valve Stenosis 50
1036 VTR016 Vater/vacterl Association 50
1037 PLC008 Placenta Disease 50
1038 P ACH011 Achondrogenesis 50
1039 c HLP025 Holoprosencephaly 9 50
1040 P OMP004 Omphalocele 50
1041 c MCK032 Meckel Syndrome, Type 3 50
1042 RNL078 Renal Dysplasia 50
1043 c SPN311 Spinocerebellar Ataxia 13 50
1044 c FML347 Familial Adenomatous Polyposis 2 49
1045 c LKD010 Leukodystrophy, Hypomyelinating, 2 49
1046 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 49
1047 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 49
1048 c HLP024 Holoprosencephaly 2 49
1049 CRD002 Cri-Du-Chat Syndrome 49
1050 c ACH042 Achondrogenesis, Type Ib 49
1051 47X002 47,xyy 49
1052 ACR043 Acromicric Dysplasia 49
1053 CHR222 Chromosome 1p36 Deletion Syndrome 49
1054 P CNG003 Congenital Dyserythropoietic Anemia 49
1055 c SPN330 Spondylocostal Dysostosis 5 49
1056 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 49
1057 c SPN106 Spinocerebellar Ataxia 5 49
1058 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 49
1059 ACR002 Acrocapitofemoral Dysplasia 48
1060 c DSB006 Desbuquois Dysplasia 1 48
1061 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 48
1062 DPN005 Du Pan Syndrome 48
1063 P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48
1064 HND004 Hand-Foot-Genital Syndrome 48
1065 SHR044 Short Rib-Polydactyly Syndrome 48
1066 P MCL001 Mucolipidosis 48
1067 c HLP026 Holoprosencephaly 3 48
1068 SHR098 Short-Rib Thoracic Dysplasia 12 48
1069 WRS002 Warsaw Breakage Syndrome 47
1070 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 47
1071 c MCK033 Meckel Syndrome, Type 4 47
1072 HLS003 Helsmoortel-Van Der Aa Syndrome 47
1073 BHR002 Bohring-Opitz Syndrome 47
1074 c SPN105 Spinocerebellar Ataxia 4 47
1075 c SPN312 Spinocerebellar Ataxia 14 47
1076 P HYP776 Hyperparathyroidism, Neonatal Severe 47
1077 MTC018 Metachondromatosis 47
1078 c HLP016 Holoprosencephaly 11 47
1079 TTR011 Tetraploidy 47
1080 c CNG216 Congenital Hydrocephalus 47
1081 P KRN004 Kernicterus 47
1082 OST062 Osteoarthritis with Mild Chondrodysplasia 47
1083 c MCK031 Meckel Syndrome, Type 2 47
1084 BRT059 Bartsocas-Papas Syndrome 46
1085 DYG001 Dyggve-Melchior-Clausen Disease 46
1086 c 46X082 46,xy Sex Reversal 46
1087 c CTR098 Cataract 1, Multiple Types 46
1088 HYR002 Hoyeraal Hreidarsson Syndrome 46
1089 c ACH033 Achondrogenesis, Type Ia 46
1090 c SCP001 Sc Phocomelia Syndrome 46
1091 c LKD009 Leukodystrophy, Hypomyelinating, 5 46
1092 MLL011 Mullerian Aplasia and Hyperandrogenism 46
1093 c MCK014 Meckel Syndrome, Type 5 46
1094 c MCK012 Meckel Syndrome, Type 6 45
1095 P HRN001 Horner's Syndrome 45
1096 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 45
1097 c SPN293 Spinocerebellar Ataxia 12 45
1098 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 45
1099 LRN006 Laurin-Sandrow Syndrome 45
1100 P OCY003 Oocyte Maturation Defect 1 45
1101 c SPN097 Spinocerebellar Ataxia 23 45
1102 c HLP028 Holoprosencephaly 5 45
1103 c SPN314 Spinocerebellar Ataxia 10 45
1104 P DSR089 Disorders of Sexual Development 45
1105 c LPD019 Lipodystrophy, Partial, Acquired 45
1106 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
1107 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 45
1108 OVR112 Ovarian Germ Cell Cancer 45
1109 HMH004 Hemihyperplasia, Isolated 45
1110 c SPN305 Spinocerebellar Ataxia 11 45
1111 c EPP014 Epiphyseal Dysplasia, Multiple, 4 45
1112 c SPN308 Spinocerebellar Ataxia 28 45
1113 c RNL122 Renal Hypodysplasia/aplasia 3 44
1114 HRT030 Hartsfield Syndrome 44
1115 LRY022 Laryngoonychocutaneous Syndrome 44
1116 c CHR579 Chiari Malformation Type Ii 44
1117 PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 44
1118 c HLP029 Holoprosencephaly 4 44
1119 c EPP013 Epiphyseal Dysplasia, Multiple, 5 44
1120 P PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 44
1121 SCH030 Schneckenbecken Dysplasia 44
1122 c MLG147 Malignant Hyperthermia 1 43
1123 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43
1124 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 43
1125 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
1126 P SYN075 Syngnathia 43
1127 P EPT020 Epithelioid Hemangioendothelioma 43
1128 ELS006 Elsahy-Waters Syndrome 43
1129 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 43
1130 STL007 Steel Syndrome 43
1131 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 43
1132 MCR103 Microtia 43
1133 GNT031 Genitopatellar Syndrome 42
1134 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 42
1135 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 42
1136 PTC001 Potocki-Shaffer Syndrome 42
1137 P VND001 Vein Disease 42
1138 c SPN101 Spinocerebellar Ataxia 29 42
1139 END059 Endocrine-Cerebroosteodysplasia 42
1140 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 42
1141 ACR011 Acromesomelic Dysplasia, Maroteaux Type 42
1142 TRP014 Triploidy 42
1143 YLL001 Yellow Nail Syndrome 42
1144 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 42
1145 c SPN265 Spinocerebellar Ataxia 36 42
1146 P ECT005 Ectropion 42
1147 MLT084 Multicystic Dysplastic Kidney 42
1148 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42
1149 P RNG032 Ring Chromosome 42
1150 CRY032 Carey-Fineman-Ziter Syndrome 42
1151 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 41
1152 c MCK034 Meckel Syndrome, Type 8 41
1153 P CHR342 Chiari Malformation 41
1154 c BRC052 Brachydactyly, Type B2 41
1155 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 41
1156 VLP002 Valproate Embryopathy 41
1157 c CLR136 Ciliary Dyskinesia, Primary, 9 41
1158 c SPN100 Spinocerebellar Ataxia 27 41
1159 P CRN013 Craniodiaphyseal Dysplasia 41
1160 CHR659 Chromosome 22q11.2 Duplication Syndrome 41
1161 c HNF003 Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 41
1162 c LKD020 Leukodystrophy, Hypomyelinating, 10 41
1163 LCR013 Lacrimal Duct Defect 41
1164 c SPN304 Spinocerebellar Ataxia 8 41
1165 ABR009 Abruzzo-Erickson Syndrome 41
1166 OGD001 Ogden Syndrome 41
1167 c SPN284 Spinocerebellar Ataxia 38 41
1168 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 40
1169 c SPN096 Spinocerebellar Ataxia 21 40
1170 c PNT043 Pontocerebellar Hypoplasia, Type 4 40
1171 BRT046 Baraitser-Winter Cerebrofrontofacial Syndrome 40
1172 c SPN104 Spinocerebellar Ataxia 34 40
1173 c SPN290 Spinocerebellar Ataxia 15 40
1174 MDL009 Medullary Sponge Kidney 40
1175 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 40
1176 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 40
1177 CRD017 Cardiac Valvular Dysplasia, X-Linked 40
1178 c HLP027 Holoprosencephaly 7 40
1179 MJD001 Majeed Syndrome 40
1180 c AML057 Amelogenesis Imperfecta, Type Iiia 40
1181 P MCR364 Macrodactyly 40
1182 c LKD015 Leukodystrophy, Hypomyelinating, 3 40
1183 PLY100 Polyploidy 40
1184 c CRD163 Cardiofaciocutaneous Syndrome 2 39
1185 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 39
1186 c SPN266 Spinocerebellar Ataxia 35 39
1187 EKN001 Eiken Syndrome 39
1188 c SYN084 Synpolydactyly 1 39
1189 P BRC003 Brachyolmia 39
1190 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 39
1191 c AML020 Amelogenesis Imperfecta, Type Iv 39
1192 c SPN103 Spinocerebellar Ataxia 31 39
1193 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 38
1194 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 38
1195 HLZ001 Holzgreve Syndrome 38
1196 TRC026 Tracheal Disease 38
1197 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 38
1198 ISL109 Isolated Cleft Lip 38
1199 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 37
1200 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 37
1201 CLF028 Cleft Soft Palate 37
1202 c AML017 Amelogenesis Imperfecta, Type Ib 37
1203 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 37
1204 CHR502 Chromosome 17q12 Duplication Syndrome 37
1205 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
1206 AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 37
1207 c LKD023 Leukodystrophy, Hypomyelinating, 12 37
1208 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 37
1209 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 37
1210 ACR016 Acromesomelic Dysplasia 37
1211 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 37
1212 c ATS282 Autosomal Recessive Malignant Osteopetrosis 37
1213 c LKD021 Leukodystrophy, Hypomyelinating, 11 37
1214 PLC006 Placental Choriocarcinoma 36
1215 c STC013 Stickler Syndrome, Type Ii 36
1216 GRN034 Grange Syndrome 36
1217 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 36
1218 c SPN247 Spinocerebellar Ataxia Type 19/22 36
1219 GST052 Gestational Choriocarcinoma 36
1220 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 36
1221 DYS045 Dysosteosclerosis 36
1222 c SPN283 Spinocerebellar Ataxia 37 36
1223 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
1224 c RBN008 Rubinstein-Taybi Syndrome 2 36
1225 c AML061 Amelogenesis Imperfecta, Type Ie 36
1226 NNT004 Neonatal Respiratory Failure 36
1227 P MTP001 Metaphyseal Dysplasia 36
1228 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 35
1229 c CRD164 Cardiofaciocutaneous Syndrome 3 35
1230 HMM005 Hemimelia 35
1231 c WLL037 Weill-Marchesani Syndrome 2 35
1232 c MCR312 Microphthalmia, Syndromic 10 35
1233 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 35
1234 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 35
1235 c CRD167 Cardiofaciocutaneous Syndrome 4 35
1236 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 35
1237 c OMD001 Omodysplasia 1 35
1238 c SPN419 Spinocerebellar Ataxia 45 35
1239 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 35
1240 ALZ030 Alazami Syndrome 35
1241 c AML047 Amelogenesis Imperfecta, Type Ia 35
1242 TTH004 Tethered Spinal Cord Syndrome 35
1243 PRP093 Pierpont Syndrome 35
1244 c LKD016 Leukodystrophy, Hypomyelinating, 9 35
1245 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 35
1246 c 46X057 46,xy Sex Reversal 8 35
1247 RFM001 Roifman Syndrome 35
1248 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 35
1249 P ENT005 Entropion 34
1250 c LKD008 Leukodystrophy, Hypomyelinating, 4 34
1251 c MCR245 Microphthalmia, Syndromic 8 34
1252 c RNG004 Ring Chromosome 1 34
1253 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 34
1254 OSB001 Osebold-Remondini Syndrome 34
1255 ATY022 Atypical Coarctation of Aorta 34
1256 DYS048 Dysplasia Epiphysealis Hemimelica 34
1257 c KNN009 Kenny-Caffey Syndrome, Type 1 34
1258 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 34
1259 c AML050 Amelogenesis Imperfecta, Type if 34
1260 c SPN099 Spinocerebellar Ataxia 26 34
1261 c PK3005 Pik3ca-Related Overgrowth Syndrome 34
1262 PST063 Postsynaptic Congenital Myasthenic Syndromes 34
1263 c SPN102 Spinocerebellar Ataxia 30 34
1264 c SPN299 Spinocerebellar Ataxia 20 33
1265 MCR025 Microhydranencephaly 33
1266 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
1267 P HYP700 Hypomyelinating Leukodystrophy 33
1268 CHR225 Chromosome 1q21.1 Duplication Syndrome 33
1269 c ATL012 Atelosteogenesis, Type Iii 33
1270 CYS021 Cystic Adenomatoid Malformation of Lung 33
1271 MSC020 Mosaic Trisomy 8 33
1272 OTD001 Otodental Dysplasia 33
1273 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33
1274 c MRG009 Meier-Gorlin Syndrome 2 33
1275 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 32
1276 c SPN095 Spinocerebellar Ataxia 19 32
1277 MYP038 Myopathy, Congenital, Compton-North 32
1278 P DSB002 Desbuquois Dysplasia 32
1279 SPN154 Spondyloperipheral Dysplasia 32
1280 P PLM182 Pulmonary Hypoplasia, Primary 32
1281 FMR018 Femoral-Facial Syndrome 32
1282 TRG019 Trigonocephaly with Short Stature and Developmental Delay 32
1283 c FML084 Familial Porencephaly 32
1284 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 32
1285 c SPN383 Spinocerebellar Ataxia 42 32
1286 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 31
1287 c DSB005 Desbuquois Dysplasia 2 31
1288 ACR017 Acrofacial Dysostosis 31
1289 c SPN094 Spinocerebellar Ataxia 18 31
1290 c JVN034 Juvenile Polyposis of Infancy 31
1291 c RNG029 Ring Chromosome 14 Syndrome 31
1292 c PSD104 Pseudohypoparathyroidism, Type Ii 31
1293 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 31
1294 ANM001 Anemia of Prematurity 31
1295 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 31
1296 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 31
1297 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 31
1298 ATY016 Atypical Werner Syndrome 31
1299 CBB005 Cobblestone Lissencephaly 31
1300 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 31
1301 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 31
1302 P CHR084 Chromosomal Disease 30
1303 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 30
1304 WRF003 Warfarin Syndrome 30
1305 TTR014 Tetrasomy 18p 30
1306 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 30
1307 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 30
1308 SPR031 Sprengel Deformity 30
1309 MTR087 Maternal Uniparental Disomy 30
1310 c HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 30
1311 TTR012 Tetrasomy 9p 30
1312 c MRG010 Meier-Gorlin Syndrome 3 30
1313 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 30
1314 CLF049 Cleft Lip and Alveolus 30
1315 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 30
1316 PLM013 Pulmonary Immaturity 30
1317 P HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 30
1318 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 29
1319 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 29
1320 c BNM015 Bone Mineral Density Quantitative Trait Locus 18 29
1321 12Q002 12q14 Microdeletion Syndrome 29
1322 P PRC050 Pericardium Disease 29
1323 c AML018 Amelogenesis Imperfecta, Type Ic 29
1324 FTL007 Fetal Hydantoin Syndrome 29
1325 c FML339 Familial Adenomatous Polyposis 4 29
1326 c SPN286 Spinocerebellar Ataxia 40 29
1327 HYP364 Hyperostosis Frontalis Interna 29
1328 RHM015 Rhombencephalosynapsis 29
1329 PLM059 Pulmonary Atresia with Ventricular Septal Defect 29
1330 c SPN098 Spinocerebellar Ataxia 25 29
1331 CHR270 Chromosome 9p Duplication 29
1332 PYR025 Pyruvate Dehydrogenase E2 Deficiency 29
1333 DFN039 Deafness-Infertility Syndrome 29
1334 WLL012 Williams-Beuren Region Duplication Syndrome 29
1335 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 29
1336 FRS007 Frias Syndrome 29
1337 c MRG016 Meier-Gorlin Syndrome 8 28
1338 PSD046 Pseudotrisomy 13 Syndrome 28
1339 LYM122 Lymphangiectasia, Pulmonary, Congenital 28
1340 49X001 49, Xxxxx 28
1341 c RNG022 Ring Chromosome 6 28
1342 MSM004 Mesomelia-Synostoses Syndrome 28
1343 PRX085 Preaxial Hallucal Polydactyly 28
1344 c MLG151 Malignant Hyperthermia 5 28
1345 P CRN249 Cornea Plana 28
1346 UNV002 Univentricular Heart 28
1347 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 28
1348 NBL001 Nablus Mask-Like Facial Syndrome 28
1349 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
1350 c FML299 Familial Adenomatous Polyposis 3 28
1351 16Q001 16q24.3 Microdeletion Syndrome 28
1352 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
1353 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
1354 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 28
1355 CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 28
1356 ACR102 Acrorenal-Mandibular Syndrome 28
1357 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 27
1358 c SPN427 Spinocerebellar Ataxia 48 27
1359 c CLR135 Ciliary Dyskinesia, Primary, 7 27
1360 CNG506 Congenital Amyoplasia 27
1361 BRN055 Bronchogenic Cyst 27
1362 c MRG011 Meier-Gorlin Syndrome 4 27
1363 CBB002 Cobb Syndrome 27
1364 CHR190 Chromosome 12p Duplication 27
1365 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 27
1366 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 27
1367 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 27
1368 KPS005 Kaposiform Lymphangiomatosis 27
1369 YNH001 Yuan-Harel-Lupski Syndrome 27
1370 c RNG010 Ring Chromosome 15 27
1371 CHR209 Chromosome 17p Duplication 27
1372 NNN033 Noonan Syndrome and Noonan-Related Syndrome 27
1373 c RNG016 Ring Chromosome 20 27
1374 DPH012 Diphallia 27
1375 c MCK035 Meckel Syndrome, Type 10 27
1376 SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 27
1377 XLN235 X-Linked Intellectual Disability with Marfanoid Habitus 27
1378 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 27
1379 HRY005 Hairy Elbows 27
1380 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 26
1381 P RNL123 Renal Agenesis, Bilateral 26
1382 c ORF041 Orofaciodigital Syndrome X 26
1383 c RNG024 Ring Chromosome 8 26
1384 KPR002 Kapur-Toriello Syndrome 26
1385 CHR457 Chromosome 17p13.1 Deletion Syndrome 26
1386 c ATR047 Atrioventricular Septal Defect 2 26
1387 MCR302 Macrostomia, Isolated 26
1388 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 26
1389 CHR498 Chromosome 16p11.2 Duplication Syndrome 26
1390 P PLM069 Pulmonary Venous Return Anomaly 26
1391 c MLG145 Malignant Epithelioid Hemangioendothelioma 26
1392 WSM003 Weismann-Netter Syndrome 26
1393 c SPN418 Spinocerebellar Ataxia 44 26
1394 c PK3004 Pik3ca-Related Overgrowth Spectrum 26
1395 CHR248 Chromosome 4p Duplication 26
1396 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 26
1397 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 26
1398 LBN004 Liebenberg Syndrome 26
1399 THR101 Thrombocytopenia, Paris-Trousseau Type 26
1400 CHR393 Chromosome 19p13.13 Deletion Syndrome 26
1401 PNS015 Penoscrotal Transposition 26
1402 P OTP008 Otopalatodigital Syndrome Spectrum Disorder 26
1403 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 26
1404 c SPN420 Spinocerebellar Ataxia 46 26
1405 c LKD031 Leukodystrophy, Hypomyelinating, 18 26
1406 c BSL030 Basal Encephalocele 26
1407 c SPN421 Spinocerebellar Ataxia 47 25
1408 URC005 Urachal Cyst 25
1409 NNG002 Non-Gestational Ovarian Choriocarcinoma 25
1410 c CTR182 Cataract 23, Multiple Types 25
1411 c ATR067 Atrioventricular Septal Defect 4 25
1412 CLN022 Colonic Atresia 25
1413 ACR039 Acromegaloid Hypertrichosis Syndrome 25
1414 FCL047 Facial Clefting, Oblique, 1 25
1415 c FCL046 Focal Facial Dermal Dysplasia 4 25
1416 c CHR565 Chromosomal Deletion Syndrome 25
1417 NNG001 Non-Gestational Choriocarcinoma 25
1418 HGH023 High Bone Mass Osteogenesis Imperfecta 25
1419 CHR266 Chromosome 8p23.1 Deletion 25
1420 CHR366 Chromosome 5p13 Duplication Syndrome 25
1421 c CTR116 Cataract 15, Multiple Types 25
1422 c MRG015 Meier-Gorlin Syndrome 7 25
1423 c MCK028 Meckel Syndrome 13 25
1424 c MRG012 Meier-Gorlin Syndrome 5 25
1425 c MRG014 Meier-Gorlin Syndrome 6 25
1426 c CTR105 Cataract 12, Multiple Types 25
1427 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 25
1428 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 25
1429 DPL009 Duplication of the Pituitary Gland 24
1430 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
1431 c MLG148 Malignant Hyperthermia 2 24
1432 c HYP831 Hyperparathyroidism, Transient Neonatal 24
1433 CGN001 Cogan-Reese Syndrome 24
1434 STN006 Steinfeld Syndrome 24
1435 c CRN280 Cornea Plana 2, Autosomal Recessive 24
1436 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1437 c BNM016 Bone Mineral Density Quantitative Trait Locus 1 24
1438 c MCR228 Microphthalmia, Syndromic 13 24
1439 c RNG013 Ring Chromosome 18 24
1440 CHR159 Charlie M Syndrome 24
1441 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 24
1442 c LKD022 Leukodystrophy, Hypomyelinating, 13 24
1443 SCH055 Schilbach-Rott Syndrome 24
1444 P PHC014 Phocomelia 24
1445 c LKD028 Leukodystrophy, Hypomyelinating, 15 24
1446 LLS001 Lelis Syndrome 24
1447 HRT018 Heart-Hand Syndrome, Slovenian Type 23
1448 OCL070 Oculopalatocerebral Syndrome 23
1449 c SPN372 Spinocerebellar Ataxia 43 23
1450 c LTH032 Lethal Congenital Contracture Syndrome 7 23
1451 c SPN323 Spinocerebellar Ataxia 41 23
1452 c CRN306 Corneal Dystrophy, Posterior Polymorphous, 4 23
1453 c ATR071 Atrioventricular Septal Defect 5 23
1454 BLP009 Blepharonasofacial Malformation Syndrome 23
1455 c LKD027 Leukodystrophy, Hypomyelinating, 14 23
1456 c CNG100 Congenital Herpes Simplex 23
1457 c DKP001 Dk Phocomelia Syndrome 23
1458 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 23
1459 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
1460 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 23
1461 PRP090 Peripheral Dysostosis 23
1462 c CTR136 Cataract 41 23
1463 OST117 Osteomesopyknosis 23
1464 CRN104 Craniotelencephalic Dysplasia 23
1465 PTR034 Paternal Uniparental Disomy 23
1466 TTR019 Tetrasomy 5p 23
1467 c MCK036 Meckel Syndrome, Type 9 23
1468 c RNG021 Ring Chromosome 5 23
1469 c LKD030 Leukodystrophy, Hypomyelinating, 17 23
1470 CRS011 Criss-Cross Heart 23
1471 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 23
1472 P ERL043 Early-Onset Nuclear Cataract 23
1473 HML054 Hemolytic Disease Due to Fetomaternal Alloimmunization 22
1474 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 22
1475 8P2002 8p23.1 Duplication Syndrome 22
1476 c JVN025 Juvenile Primary Osteoporosis 22
1477 INT095 Internal Carotid Agenesis 22
1478 PTL010 Patella Aplasia-Hypoplasia 22
1479 DPR014 Diprosopus 22
1480 MTC100 Metacarpal 4-5 Fusion 22
1481 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 22
1482 c AML048 Amelogenesis Imperfecta, Type Ih 22
1483 c HLP022 Holoprosencephaly 8 22
1484 c MCK020 Meckel Syndrome, Type 11 22
1485 c MLG149 Malignant Hyperthermia 3 22
1486 ATR017 Atrial Septal Defect Coronary Sinus 22
1487 ACR107 Acrofacial Dysostosis, Palagonia Type 22
1488 LRY028 Laryngocele 22
1489 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
1490 c RNG019 Ring Chromosome 3 22
1491 CHN040 Choanal Atresia and Lymphedema 22
1492 CHR241 Chromosome 2q24 Microdeletion Syndrome 22
1493 6QT002 6q Terminal Deletion Syndrome 21
1494 c OCY004 Oocyte Maturation Defect 3 21
1495 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 21
1496 c HRN024 Horner Syndrome, Congenital 21
1497 CLR127 Ciliary Dyskinesia, Primary, 36, X-Linked 21
1498 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 21
1499 c BRC053 Brachyolmia Type 2 21
1500 SPN228 Spondyloepiphyseal Dysplasia, Nishimura Type 21
1501 P PTR018 Paternal Uniparental Disomy of Chromosome 6 21
1502 c ATR064 Atrioventricular Septal Defect 3 21
1503 c HLP021 Holoprosencephaly 6 21
1504 c MLG150 Malignant Hyperthermia 4 21
1505 ILL003 Illum Syndrome 21
1506 13Q001 13q12.3 Microdeletion Syndrome 21
1507 c CCK004 Cockayne Syndrome Type Iii 21
1508 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 21
1509 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 21
1510 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 21
1511 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1512 EXT062 Extracranial Carotid Artery Aneurysm 21
1513 c CMR006 Camurati-Engelmann Disease, Type 2 21
1514 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 21
1515 c ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 21
1516 c LKD029 Leukodystrophy, Hypomyelinating, 16 21
1517 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 21
1518 c AML059 Amelogenesis Imperfecta, Type Ij 21
1519 FTL018 Fetal Indomethacin Syndrome 20
1520 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 20
1521 P SPN237 Spina Bifida Aperta 20
1522 IST006 Isotretinoin Syndrome 20
1523 THY106 Thyroglossal Duct Cyst, Familial 20
1524 PRT131 Partial Trisomy Distal 4q 20
1525 DRM042 Dermatoosteolysis, Kirghizian Type 20
1526 CMP039 Camptodactyly 1 20
1527 ALR004 Alar Cleft, Isolated 20
1528 MTR027 Mitral Atresia 20
1529 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 20
1530 VNF001 Vein of Galen Aneurysm 20
1531 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 20
1532 CHR416 Chromosome 17q Deletion 20
1533 ATR053 Atresia of Urethra 20
1534 c 46X011 46, Xy Disorders of Sexual Development 20
1535 ART162 Arthrogryposis Multiplex Congenita, Neurogenic, with Agenesis of the Corpus Callosum 20
1536 CRN311 Coronary Ostial Stenosis or Atresia 20
1537 c OMP009 Omphalocele, Autosomal 20
1538 RTH002 Rutherfurd Syndrome 20
1539 MZB001 Mazabraud Syndrome 20
1540 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
1541 TRC114 Trichodental Dysplasia 20
1542 c RNG025 Ring Chromosome 9 20
1543 PRM334 Primary Bone Dysplasia with Increased Bone Density 20
1544 DST059 Distal Trisomy 17q 20
1545 c OCY002 Oocyte Maturation Defect 2 20
1546 PRG122 Prognathism, Mandibular 20
1547 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 19
1548 MSC017 Mosaic Trisomy 22 19
1549 P CHR200 Chromosome 16 Trisomy 19
1550 CHR612 Chromosome 15q14 Deletion Syndrome 19
1551 ODN020 Odontoma-Dysphagia Syndrome 19
1552 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 19
1553 c AML064 Amelogenesis Imperfecta, Type Iiic 19
1554 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 19
1555 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 19
1556 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
1557 PRR029 Pierre Robin Syndrome and Oligodactyly 19
1558 c OCY005 Oocyte Maturation Defect 4 19
1559 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 19
1560 c MLG152 Malignant Hyperthermia 6 19
1561 1Q4001 1q44 Microdeletion Syndrome 19
1562 HYD021 Hydrocephalus Obesity Hypogonadism 19
1563 AML012 Ameloonychohypohidrotic Syndrome 19
1564 DBL007 Double Outlet Left Ventricle 19
1565 c CHR227 Chromosome 20 Trisomy 19
1566 16P004 16p13.11 Microduplication Syndrome 19
1567 16P003 16p13.11 Microdeletion Syndrome 19
1568 c CRN279 Cornea Plana 1, Autosomal Dominant 19
1569 VRR008 Verrucous Hemangioma 19
1570 c SPN259 Spinocerebellar Ataxia 32 19
1571 CRV062 Cervical Spina Bifida Cystica 19
1572 HMF007 Hemifacial Hyperplasia with Strabismus 18
1573 EDN001 Edinburgh Malformation Syndrome 18
1574 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 18
1575 STT008 Steatocystoma Multiplex with Natal Teeth 18
1576 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 18
1577 PYK001 Pyknoachondrogenesis 18
1578 RDL030 Radial-Renal Syndrome 18
1579 SND006 Sonoda Syndrome 18
1580 UNL014 Unilateral Multicystic Dysplastic Kidney 18
1581 c OCY007 Oocyte Maturation Defect 6 18
1582 17Q012 17q24.2 Microdeletion Syndrome 18
1583 HMR016 Humeroradioulnar Synostosis 18
1584 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
1585 ANR043 Aniridia and Absent Patella 18
1586 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 18
1587 CNG347 Congenital Tricuspid Stenosis 18
1588 c HYD067 Hydatidiform Mole, Recurrent, 3 18
1589 MCR303 Macrosomia with Microphthalmia, Lethal 18
1590 MTH070 Methimazole Antenatal Exposure 17
1591 DFN307 Deafness-Oligodontia Syndrome 17
1592 7P2001 7p22.1 Microduplication Syndrome 17
1593 c LKD032 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 17
1594 c PTS018 Ptosis, Hereditary Congenital 1 17
1595 TBL027 Tubulinopathy-Associated Dysgyria 17
1596 c PRG096 Pregnancy Loss, Recurrent 2 17
1597 NDL022 Nodular Neuronal Heterotopia 17
1598 c PRG093 Pregnancy Loss, Recurrent 3 17
1599 P ATS469 Autosomal Monosomy 17
1600 PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 17
1601 c TTL008 Total Spina Bifida Cystica 17
1602 DBL010 Double-Orifice Mitral Valve 17
1603 CRN192 Craniorhiny 17
1604 c OCY006 Oocyte Maturation Defect 5 17
1605 ACR078 Acral Self-Healing Collodion Baby 17
1606 MSC079 Mosaic Trisomy 1 17
1607 HND012 Handigodu Joint Disease 17
1608 BKS002 Book Syndrome 17
1609 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
1610 TRN017 Transient Neonatal Neutropenia 17
1611 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 17
1612 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 17
1613 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 17
1614 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 17
1615 BRC095 Brachydactyly, Mononen Type 17
1616 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 17
1617 XP2001 Xp22.3 Microdeletion Syndrome 17
1618 c BNM031 Bone Mineral Density Quantitative Trait Locus 17 17
1619 GNC010 Genochondromatosis 17
1620 RTF001 Retiform Hemangioendothelioma 17
1621 TRG007 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 17
1622 THM021 Thumb Deformity and Alopecia 17
1623 LSS034 Lissencephaly Type Iii and Bone Dysplasia 16
1624 P CNG600 Congenital Arteriovenous Fistula 16
1625 c RNG014 Ring Chromosome 19 16
1626 CLB018 Coloboma of Eyelid 16
1627 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
1628 c RNG011 Ring Chromosome 16 16
1629 c CNG433 Congenital Cornea Plana 16
1630 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 16
1631 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 16
1632 NND006 Non-Distal Monosomy 20q 16
1633 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 16
1634 UMB001 Umbilical Cord Ulceration and Intestinal Atresia 16
1635 CMM018 Common Mesentery 16
1636 c NNS019 Nonsyndromic Holoprosencephaly 16
1637 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1638 HRS037 Hirschsprung Disease with Type D Brachydactyly 16
1639 CLF034 Cleft Hard Palate 16
1640 VLF001 Velofacioskeletal Syndrome 16
1641 8Q1001 8q12 Microduplication Syndrome 16
1642 LNG102 Long-Thumb Brachydactyly Syndrome 16
1643 FRS011 First Branchial Cleft Anomaly 16
1644 c PTR011 Paternal Uniparental Disomy of Chromosome 1 16
1645 ISL118 Isolated Tracheoesophageal Fistula 16
1646 CMP077 Composite Hemangioendothelioma 16
1647 CNT114 Central Nervous System Malformation 16
1648 ERL040 Early-Onset Sutural Cataract 16
1649 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 16
1650 DDL001 Didelphys Uterus 16
1651 BWN005 Bowing of Long Bones Congenital 16
1652 c AML056 Amelogenesis Imperfecta, Type Iiib 16
1653 PLY132 Polysyndactyly, Crossed 16
1654 c OCY008 Oocyte Maturation Defect 7 16
1655 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 16
1656 HYP727 Hypoglossia with Situs Inversus 16
1657 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 16
1658 DST035 Distal Trisomy 18q 16
1659 TRN013 Transient Neonatal Thrombocytopenia 15
1660 c MTR067 Maternal Uniparental Disomy of Chromosome 16 15
1661 ERL037 Early-Onset Lamellar Cataract 15
1662 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 15
1663 CLB008 Coloboma of Eye Lens 15
1664 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 15
1665 ORL024 Oral and Digital Anomalies with Ichthyosis 15
1666 CRY029 Cryptomicrotia-Brachydactyly Syndrome 15
1667 c PTS010 Ptosis, Hereditary Congenital 2 15
1668 PTS017 Ptosis, Strabismus, and Ectopic Pupils 15
1669 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1670 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 15
1671 SBM006 Submucosal Cleft Palate 15
1672 c CTR176 Cataract, Age-Related Nuclear 15
1673 c RRM002 Rrm2b-Related Mitochondrial Disease 15
1674 FRN047 Frontonasal Dysplasia with Alar Clefts 15
1675 c SPN107 Spinocerebellar Ataxia 9 15
1676 BLT020 Bilateral Multicystic Dysplastic Kidney 15
1677 CNG067 Congenital Cystic Eye 15
1678 WHB001 Wahab Syndrome 15
1679 SCR022 Sacral Meningocele Conotruncal Heart Defects 14
1680 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 14
1681 ANR045 Aneurysm of Interventricular Septum 14
1682 DLT013 Deletion 5q35 14
1683 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 14
1684 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
1685 CMP079 Complete Septate Uterus 14
1686 THR030 Thoraco Abdominal Enteric Duplication 14
1687 DRM038 Dermotrichic Syndrome 14
1688 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
1689 MSC080 Mosaic Trisomy 12 14
1690 RNL109 Renal Hypoplasia, Bilateral 14
1691 DST055 Distal 22q11.2 Microduplication Syndrome 14
1692 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 14
1693 c KLF002 Kleefstra Syndrome Due to a Point Mutation 14
1694 ART130 Arthrogryposis with Hyperkeratosis 14
1695 BNK001 Banki Syndrome 14
1696 PRB002 Proboscis Lateralis 14
1697 PLT010 Pili Torti Onychodysplasia 14
1698 PHL009 Phalangeal Microgeodic Syndrome 14
1699 CRY037 Cryptophthalmia 14
1700 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1701 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 14
1702 GRH002 Graham Boyle Troxell Syndrome 14
1703 ISL128 Isolated Microspherophakia 13
1704 CCN010 Cocaine Embryofetopathy 13
1705 MCR186 Microtriplication 11q24.1 13
1706 URC012 Urachal Sinus 13
1707 ANN015 Anonychia with Flexural Pigmentation 13
1708 URC013 Urachal Diverticulum 13
1709 ISL111 Isolated Arrhinia 13
1710 c BNM021 Bone Mineral Density Quantitative Trait Locus 7 13
1711 P DFN296 Deafness-Onychodystrophy Syndrome 13
1712 SBP003 Subependymal Nodular Heterotopia 13
1713 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 13
1714 CMP022 Camptodactyly Taurinuria 13
1715 PRT237 Partial Deletion of the Long Arm of Chromosome 16 13
1716 DFN310 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy 13
1717 5Q3001 5q35 Microduplication Syndrome 13
1718 RRC028 Rare Congenital Non-Syndromic Heart Malformation 13
1719 PRT184 Partial Deletion of the Long Arm of Chromosome 11 13
1720 PRT206 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 13
1721 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 13
1722 GZR001 Guizar Vasquez Sanchez Manzano Syndrome 13
1723 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 13
1724 PRM319 Primary Bone Dysplasia 13
1725 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 13
1726 LRY034 Laryngotracheal Angioma 13
1727 MDR001 Medeira-Dennis-Donnai Syndrome 13
1728 PRT178 Partial Deletion of the Long Arm of Chromosome 5 13
1729 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 13
1730 KLM001 Klumpke Paralysis 13
1731 c MTR057 Maternal Uniparental Disomy of Chromosome X 13
1732 20Q002 20q11.2 Microduplication Syndrome 13
1733 ART097 Aorto-Left Ventricular Tunnel 12
1734 c CMP100 Campomelic Dysplasia and Related Disorders 12
1735 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 12
1736 PRP103 Peripapillary Staphyloma 12
1737 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 12
1738 NND005 Non-Distal Trisomy 13q 12
1739 XQ1001 Xq12-Q13.3 Duplication Syndrome 12
1740 LBR027 Laubry-Pezzi Syndrome 12
1741 LPM011 Lip, Median Nodule of Upper 12
1742 TRN045 True Unicornuate Uterus 12
1743 GLS016 Glossopalatine Ankylosis 12
1744 SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 12
1745 NND004 Non-Distal Monosomy 10q 12
1746 FBL015 Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 12
1747 c EZH001 Ezh2-Related Overgrowth 12
1748 PRT180 Partial Deletion of the Long Arm of Chromosome 7 12
1749 PRT186 Partial Duplication of the Long Arm of Chromosome X 12
1750 XLN204 X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 12
1751 ANM077 Anomalous Aortic Origin of the Left Coronary Artery 11
1752 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 11
1753 MDL028 Midline Cerebral Malformation 11
1754 c RRC022 Rare Chromosomal Anomaly 11
1755 THR083 Third Branchial Cleft Anomaly 11
1756 FRN052 Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome 11
1757 c INT382 Intermediate Atrioventricular Septal Defect 11
1758 DYS044 Dysmorphism Cleft Palate Loose Skin 11
1759 c MLT172 Multiple Metaphyseal Dysplasia 11
1760 c CNG249 Congenital Pulmonary Venous Return Anomaly 11
1761 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 11
1762 INV014 Inverse Klippel-Trenaunay Syndrome 11
1763 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 11
1764 c BNM017 Bone Mineral Density Quantitative Trait Locus 2 11
1765 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 11
1766 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
1767 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 11
1768 ONY006 Onychodystrophy-Anonychia 11
1769 CRV060 Cervical Dermoid Cyst 11
1770 PRT185 Partial Deletion of the Long Arm of Chromosome 13 11
1771 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 11
1772 c CNG405 Congenital Pulmonary Airway Malformation Type 4 11
1773 c RRD018 Rare Disease with Pierre Robin Syndrome 10
1774 CNT077 Central Bilateral Macrogyria 10
1775 MRN008 Marin-Amat Syndrome 10
1776 PRT163 Partial Deletion of the Short Arm of Chromosome 5 10
1777 MSC087 Mosaic Trisomy 4 10
1778 c CHR161 Chiari Malformation Type 3 10
1779 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 10
1780 c BNM024 Bone Mineral Density Quantitative Trait Locus 10 10
1781 c BNM026 Bone Mineral Density Quantitative Trait Locus 12 10
1782 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 10
1783 c MCR185 Macrodactyly of Toes 10
1784 CNG575 Congenital Joint Dislocations 10
1785 CNG244 Congenital Laryngeal Cyst 10
1786 ATS453 Autosomal Anomaly 10
1787 PRT169 Partial Deletion of the Short Arm of Chromosome 11 10
1788 PRT219 Partial Duplication of the Short Arm of Chromosome 6 10
1789 PRM246 Primary Tethered Cord Syndrome 10
1790 MCR184 Macrodactyly of Fingers 10
1791 MSC088 Mosaic Trisomy 5 10
1792 c EDR001 Eed-Related Overgrowth 10
1793 c BNM019 Bone Mineral Density Quantitative Trait Locus 5 10
1794 c FML317 Familial Monosomy 7 Syndrome 10
1795 c ISC017 Isca2-Related Mitochondrial Disorder 10
1796 PRT164 Partial Deletion of the Short Arm of Chromosome 8 10
1797 PRT179 Partial Deletion of the Long Arm of Chromosome 6 10
1798 PRC042 Parachute Tricuspid Valve 10
1799 c CNG251 Congenital Pericardium Anomaly 10
1800 c BNM025 Bone Mineral Density Quantitative Trait Locus 11 9
1801 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 9
1802 SYN027 Syngnathia Cleft Palate 9
1803 CNG392 Congenital Pulmonary Veins Atresia or Stenosis 9
1804 ANG057 Angioosteohypotrophic Syndrome 9
1805 c RRR004 Rare Arteriovenous Malformation 9
1806 c AML063 Amelogenesis Imperfecta Type 2a1 9
1807 c PRT205 Partial Trisomy of the Long Arm of Chromosome 5 9
1808 DST085 Distal Trisomy 2q 9
1809 RRV006 Rare Venous Malformation 9
1810 PRT187 Partial Duplication of Chromosome X 9
1811 SYN143 Syndromic Telecanthus 9
1812 DST081 Distal Trisomy 11q 9
1813 PRT106 Partial Duplication of the Short Arm of Chromosome X 9
1814 c BNM014 Bone Mineral Density Quantitative Trait Locus 4 9
1815 c BNM020 Bone Mineral Density Quantitative Trait Locus 6 9
1816 CNG272 Congenital Achiasma 9
1817 CNG490 Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 9
1818 PNC130 Pancreatic Agenesis-Holoprosencephaly Syndrome 9
1819 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 9
1820 DST076 Distal Trisomy 13q 9
1821 INV017 Inverse Marcus-Gunn Phenomenon 9
1822 PRT218 Partial Duplication of the Short Arm of Chromosome 3 9
1823 PRT145 Partial Deletion of Chromosome 3 9
1824 PRT167 Partial Deletion of the Short Arm of Chromosome 9 9
1825 RNL107 Renal Dysplasia, Bilateral 9
1826 c SCN085 Secondary Ectropion 9
1827 PRT236 Partial Deletion of the Long Arm of Chromosome 15 9
1828 PRT159 Partial Deletion of the Short Arm of Chromosome 1 9
1829 PRT228 Partial Duplication of Chromosome 1 8
1830 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 8
1831 MLT170 Multiple Congenital Anomalies/dysmorphic Syndrome 8
1832 ESP045 Esophageal Malformation 8
1833 PRT197 Partial Duplication of the Long Arm of Chromosome 15 8
1834 DST057 Distal Trisomy 19q 8
1835 RNL106 Renal Dysplasia, Unilateral 8
1836 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 8
1837 SYN127 Syndromic Ectopia Lentis 8
1838 CNG517 Congenital Agenesis of the Scrotum 8
1839 CCH007 Cochleovestibular Dysplasia 8
1840 P PRM337 Primary Osteolysis 8
1841 RNL108 Renal Hypoplasia, Unilateral 8
1842 3Q2004 3q26 Microduplication Syndrome 8
1843 TRS020 Tarsal Kink Syndrome 8
1844 PRT225 Partial Duplication of Chromosome 17 8
1845 ISL108 Isolated Splenogonadal Fusion 8
1846 CNG334 Congenital Esophageal Diverticulum 8
1847 c KRN003 Kernicterus Due to Isoimmunization 8
1848 PRT177 Partial Deletion of the Long Arm of Chromosome 4 8
1849 c PRT182 Partial Monosomy of the Long Arm of Chromosome 9 8
1850 CNG318 Congenital Genu Recurvatum 8
1851 P RRC010 Rare Capillary Malformation 7
1852 P PRT173 Partial Monosomy of the Short Arm of Chromosome 20 7
1853 PRT226 Partial Duplication of Chromosome 16 7
1854 P NNS070 Non-Syndromic Cerebral Malformation 7
1855 PLY086 Polyrrhinia 7
1856 PRT151 Partial Deletion of Chromosome 16 7
1857 SPN437 Spondylodysplastic Dysplasia 7
1858 BNL004 Benallegue Lacete Syndrome 7
1859 ORF053 Orofacial Clefting Syndrome 7
1860 PRT146 Partial Deletion of Chromosome 8 7
1861 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 7
1862 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
1863 c PTR023 Paternal Uniparental Disomy of Chromosome 13 7
1864 c PRT170 Partial Monosomy of the Short Arm of Chromosome 17 7
1865 FTL049 Fetal Carbamazepine Syndrome 7
1866 URG006 Urogenital Tract Malformation 7
1867 MLF005 Malformation Syndrome with Short Stature 6
1868 PRT143 Partial Deletion of Chromosome 5 6
1869 14Q003 14q11.2 Microduplication Syndrome 6
1870 OKH001 Okihiro Syndrome Due to a Point Mutation 6
1871 PRT189 Partial Duplication of the Long Arm of Chromosome 19 6
1872 RNN007 Reunion Island Larsen-Like Syndrome 6
1873 c MTR065 Maternal Uniparental Disomy of Chromosome 21 6
1874 c MTR079 Maternal Uniparental Disomy of Chromosome 13 6
1875 PRN015 Perinatal Intestinal Perforation 6
1876 c YCH004 Y Chromosomal Anomaly 6
1877 c CHR162 Chiari Malformation Type 4 6
1878 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
1879 CMM016 Commissural Lip Fistula 6
1880 DST058 Distal Monosomy 12p 6
1881 DST074 Distal Trisomy 20q 6
1882 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1883 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
1884 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1885 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
1886 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
1887 UPP009 Upper Limb Hypertrophy 6
1888 c NNS047 Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration 6
1889 7Q3001 7q31 Microdeletion Syndrome 6
1890 PRT148 Partial Deletion of Chromosome 6 6
1891 DST054 Distal 17p13.3 Microdeletion Syndrome 6
1892 PRT222 Partial Duplication of Chromosome 8 6
1893 PRT229 Partial Duplication of Chromosome 2 6
1894 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 6
1895 c PTR022 Paternal Uniparental Disomy of Chromosome 7 6
1896 TBL020 Tubular Duplication of the Esophagus 6
1897 NSN002 Nose and Cavum Anomaly 6
1898 c RRD061 Rare Disorder with Ptosis 6
1899 c CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 5
1900 CLB023 Coloboma of Inferior Eyelid 5
1901 PRT172 Partial Deletion of the Short Arm of Chromosome 19 5
1902 PRT176 Partial Deletion of the Long Arm of Chromosome 3 5
1903 PRT192 Partial Duplication of the Long Arm of Chromosome 22 5
1904 PRT201 Partial Duplication of the Long Arm of Chromosome 3 5
1905 PRT209 Partial Duplication of the Short Arm of Chromosome 17 5
1906 INT186 Intralobar Congenital Pulmonary Sequestration 5
1907 CNG582 Congenital Disorder of Glycosylation with Deafness As a Major Feature 5
1908 DBL020 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect 5
1909 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 5
1910 DST077 Distal Trisomy 22q 5
1911 DST083 Distal Trisomy 9q 5
1912 SYN155 Syndromic Anorectal Malformation 5
1913 SYN145 Syndromic Epicanthus 5
1914 MLF009 Malformation of the Cerebellar Vermis 5
1915 PRT155 Partial Deletion of Chromosome 17 5
1916 PRT212 Partial Duplication of the Short Arm of Chromosome 16 5
1917 PRM320 Primary Bone Dysplasia with Micromelia 5
1918 LSS032 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome 5
1919 DRG019 Drug-Related Renal Tubular Dysgenesis 5
1920 DST067 Distal Monosomy 14q 5
1921 PRM332 Primary Bone Dysplasia with Defective Bone Mineralization 5
1922 PRM333 Primary Bone Dysplasia with Decreased Bone Density 5
1923 NNT057 Neonatal Osteosclerotic Dysplasia 5
1924 PRM335 Primary Bone Dysplasia with Multiple Joint Dislocations 5
1925 PRM336 Primary Bone Dysplasia with Disorganized Development of Skeletal Components 5
1926 SLN010 Slender Bone Dysplasia 5
1927 RGH007 Right Inferior Vena Cava Connecting to Left-Sided Atrium 5
1928 CNG601 Congenital Tricuspid Malformation 5
1929 CNG438 Congenital Disorder of Glycosylation with Developmental Anomaly 5
1930 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 5
1931 ABS021 Absence of Uterine Body 5
1932 PRR038 Pierre Robin Syndrome Associated with Bone Disease 5
1933 c PRT194 Partial Trisomy of the Long Arm of Chromosome 9 5
1934 PRT198 Partial Duplication of the Long Arm of Chromosome 14 5
1935 PRT240 Partial Deletion of the Long Arm of Chromosome 19 5
1936 CNG571 Congenital Disorder of Glycosylation-Related Bone Disorder 5
1937 ISL117 Isolated Congenital Radial Head Dislocation 5
1938 CNG583 Congenital Urachal Anomaly 5
1939 STR107 Sterol Biosynthesis Disorder 5
1940 STR109 Structural Developmental Eye Defect 5
1941 CNG353 Congenital Partial Agenesis of Pericardium 5
1942 SYN169 Syndrome with a Central Nervous System Malformation As a Major Feature 5
1943 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1944 ERL060 Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia 5
1945 c LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 5
1946 ISL106 Isolated Congenital Microcephaly 4
1947 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 4
1948 NNS046 Non-Syndromic Urogenital Tract Malformation 4
1949 LWS004 Low Isolated Anorectal Malformation 4
1950 c TSS003 Tessier Number 6 Facial Cleft 4
1951 MDN007 Median Cleft Lip/mandibule 4
1952 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 4
1953 2P1003 2p13.2 Microdeletion Syndrome 4
1954 PRT245 Partial Deletion of Chromosome 12 4
1955 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 4
1956 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 4
1957 ARX004 Arx-Related Encephalopathy-Brain Malformation Spectrum 4
1958 4Q2002 4q25 Proximal Deletion Syndrome 4
1959 RRC020 Rare Congenital Anomaly of Ventricular Septum 4
1960 NND009 Non-Distal Trisomy 9q 4
1961 SYN141 Syndromic Renal or Urinary Tract Malformation 4
1962 RRP026 Rare Palpebral Disorder 4
1963 RRT022 Rare Atrial Defect and Interatrial Communication 4
1964 c CNG593 Congenital Mitral Valve Insufficiency and/or Stenosis 4
1965 c RRD045 Rare Disorder with Ectropion 4
1966 c RRD027 Rare Disease with Malignant Hyperthermia 4
1967 c BLT012 Bilateral Renal Agenesis Dominant Type 4
1968 PRT224 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 4
1969 SYN166 Syndrome with a Dandy-Walker Malformation As a Major Feature 4
1970 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
1971 ISL130 Isolated Congenital Entropion 4
1972 PRS139 Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium 4
1973 ISL071 Isolated Congenital Ectropion 4
1974 CNG598 Congenital Malformation of the Eye with Glaucoma As a Major Feature 4
1975 OTH025 Other Syndrome with Lissencephaly As a Major Feature 4
1976 c XND001 X and Y Chromosomal Anomaly 4
1977 c RRD046 Rare Disorder with Entropion 4
1978 HGH040 High Isolated Anorectal Malformation 4
1979 ISL107 Isolated Congenital Syngnathia 4
1980 PRT156 Partial Deletion of Chromosome 20 4
1981 c XCH002 X Chromosome Number Anomaly 4
1982 MLF006 Malformation of the Neurenteric Canal, Spinal Cord and Column 4
1983 PRT243 Partial Duplication of the Short Arm of Chromosome 1 4
1984 HMZ005 Homozygous 2p21 Microdeletion Syndrome 4
1985 CNG576 Congenital Deformities of Fingers 4
1986 MCR187 Macrodactyly of Fingers, Bilateral 4
1987 LTH049 Lethal Multiple Congenital Anomalies/dysmorphic Syndrome 4
1988 OVR126 Overgrowth or Tall Stature Syndrome with Skeletal Involvement 4
1989 GNT161 Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy 4
1990 MYB004 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome 4
1991 NNS058 Non-Syndromic Renal or Urinary Tract Malformation 4
1992 SYN156 Syndrome with Limb Malformations As a Major Feature 4
1993 SYN157 Syndromic Respiratory or Mediastinal Malformation 4
1994 NNS064 Non-Syndromic Central Nervous System Malformation 4
1995 SYN159 Syndromic Diaphragmatic or Abdominal Wall Malformation 4
1996 SYN162 Syndromic Esophageal Malformation 4
1997 c SYN028 Syngnathia Multiple Anomalies 3
1998 MLF004 Malformation Syndrome with Odontal and/or Periodontal Component 3
1999 MTR085 Maternal Disease-Related Embryofetopathy 3
2000 c CNG565 Congenital Systemic Veins Anomaly 3
2001 TRC124 True Congenital Shoulder Dislocation 3
2002 DYS206 Dysostosis with Brachydactyly with Extraskeletal Manifestations 3
2003 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 3
2004 ISL132 Isolated Megalopapilla 3
2005 ANT090 Anterior Segment Developmental Abnormality with Extraocular Manifestations 3
2006 RRT021 Rare Otorhinolaryngological Malformation 3
2007 CNG341 Congenital Anomaly of the Coronary Sinus 3
2008 STR075 Straddling or Overriding Tricuspid Valve 3
2009 PTL012 Patellar Dysostosis 3
2010 NNS060 Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy 3
2011 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 3
2012 CNG361 Congenital Supravalvular Mitral Ring 3
2013 LNS007 Lens Shape Anomaly 3
2014 HRT042 Heart Position Anomaly 3
2015 SYN163 Syndromic Gastroduodenal Malformation 3
2016 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
2017 RRV004 Rare Vaginal Malformation 3
2018 NNS051 Non-Syndromic Urogenital Tract Malformation of Male 3
2019 PRR037 Pierre Robin Syndrome Associated with a Chromosomal Anomaly 3
2020 TRT023 Teratogenic Pierre Robin Syndrome 3
2021 RRS007 Rare Syndrome with Cardiac Malformations 3
2022 PRT221 Partial Trisomy/tetrasomy of Chromosome 9 3
2023 PRT232 Partial Trisomy/tetrasomy of Chromosome 5 3
2024 LPM014 Lipoma Associated with Neurospinal Dysraphism 3
2025 OTH026 Other Syndrome with a Central Nervous System Malformation As a Major Feature 3
2026 CNT113 Central Nervous System Cystic Malformation 3
2027 INF180 Infantile Hemangioma of Rare Localization 3
2028 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 3
2029 c MTC198 Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 3
2030 CNG321 Congenital Elbow Dislocation, Bilateral 3
2031 RRC017 Rare Capillary Malformation with Associated Anomalies 3
2032 DPH029 Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome 3
2033 c TTL013 Total Autosomal Trisomy 3
2034 SXC006 Sex-Chromosome Structural Anomaly 3
2035 P CHR690 Chromosome Y Structural Anomaly 3
2036 c CHR691 Chromosome X Structural Anomaly 3
2037 MLF007 Malformation Syndrome with Hamartosis 3
2038 CRN315 Cranial Nerve and Nuclear Aplasia 3
2039 NNS063 Non-Syndromic Respiratory or Mediastinal Malformation 3
2040 c PLM183 Pulmonary Hypoplasia, Familial Primary 3
2041 RRD017 Rare Developmental Defect with Connective Tissue Involvement 3
2042 RRH012 Rare Head and Neck Malformation 3
2043 PNN007 Pinnae and External Auditory Canal Anomaly 3
2044 TXC022 Toxic or Drug-Related Embryofetopathy 3
2045 ENC071 Encephaloclastic Disorder 3
2046 SYN167 Syndrome with Microcephaly As a Major Feature 3
2047 RRD038 Rare Disorder with Hirschsprung Disease As a Major Feature 3
2048 TRN077 Transposition of the Great Arteries and Conotruncal Cardiac Anomaly 3
2049 NNS067 Non-Syndromic Gastroduodenal Malformation 3
2050 NNS052 Non-Syndromic Urogenital Tract Malformation of Male and Female 2
2051 SYN107 Syndrome or Malformation Associated with Head and Neck Malformations 2
2052 ORM003 Oromandibular-Limb Anomalies Syndrome 2
2053 XCH001 X Chromosome Number Anomaly with Male Phenotype 2
2054 CHR693 Chromosomal Disease with Overgrowth 2
2055 NNS069 Non-Syndromic Esophageal Malformation 2
2056 P TST021 Testicular Germ Cell Tumor 60
2057 c TST046 Testicular Germ Cell Tumor 1 29
2058 UND001 Undifferentiated Embryonal Sarcoma of the Liver 30
2059 P MDL005 Medulloblastoma 77
2060 GRC001 Gracile Syndrome 47
2061 c ADL023 Adult Medulloblastoma 44
2062 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 16
2063 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
2064 CHL048 Childhood Teratocarcinoma of the Testis 6
2065 NRL016 Neural Tube Defects 82
2066 MRF001 Marfan Syndrome 77
2067 PHN003 Phenylketonuria 75
2068 P TTR001 Tetralogy of Fallot 70
2069 P DMN001 Diamond-Blackfan Anemia 69
2070 P ANG001 Angelman Syndrome 69
2071 P CRN037 Craniosynostosis 68
2072 CST001 Costello Syndrome 68
2073 P KBK002 Kabuki Syndrome 1 67
2074 P CRB048 Cerebral Cavernous Malformations 67
2075 P DYS007 Dyskeratosis Congenita 67
2076 FCL009 Focal Dermal Hypoplasia 66
2077 AND002 Androgen Insensitivity Syndrome 66
2078 c MCL013 Mucolipidosis Iv 66
2079 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65
2080 CRN036 Craniopharyngioma 65
2081 P PSD087 Pseudoxanthoma Elasticum 65
2082 P CLD001 Cleidocranial Dysplasia 65
2083 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65
2084 P CMP005 Campomelic Dysplasia 64
2085 NRR002 Norrie Disease 64
2086 SPT006 Septooptic Dysplasia 64
2087 c MCP049 Mucopolysaccharidosis, Type Vii 63
2088 P HYP055 Hypoplastic Left Heart Syndrome 63
2089 P CFF008 Coffin-Siris Syndrome 1 63
2090 ELL001 Ellis-Van Creveld Syndrome 62
2091 c BRN108 Branchiootic Syndrome 1 62
2092 DNH001 Donohue Syndrome 62
2093 P DNT020 Dent Disease 1 62
2094 P THN009 Thanatophoric Dysplasia, Type I 62
2095 CHR619 Chromosome 2q35 Duplication Syndrome 62
2096 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 62
2097 P CRN038 Carney Complex Variant 61
2098 P HYP035 Hypophosphatasia 61
2099 ART141 Arteriovenous Malformations of the Brain 61
2100 c ART144 Arthrogryposis, Distal, Type 1a 61
2101 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
2102 P HMN010 Hemangioma 61
2103 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 60
2104 CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60
2105 c WLF013 Wolfram Syndrome 1 60
2106 STR039 Sturge-Weber Syndrome 60
2107 P WLF004 Wolfram Syndrome 60
2108 P CTR002 Cataract 60
2109 WLF002 Wolf-Hirschhorn Syndrome 59
2110 PRN019 Perinatal Necrotizing Enterocolitis 59
2111 P ADM011 Adams-Oliver Syndrome 59
2112 MNK003 Muenke Syndrome 59
2113 PSD012 Pseudoachondroplasia 58
2114 FCL081 Focal Cortical Dysplasia, Type Ii 58
2115 P MLT007 Multiple Epiphyseal Dysplasia 58
2116 MCS006 Macs Syndrome 58
2117 DST005 Diastrophic Dysplasia 58
2118 P EHL001 Ehlers-Danlos Syndrome 58
2119 DNY001 Denys-Drash Syndrome 57
2120 P ZLL001 Zellweger Syndrome 57
2121 c OTP007 Otopalatodigital Syndrome, Type Ii 57
2122 c ART061 Arthrogryposis, Distal, Type 2a 57
2123 ARS001 Aarskog-Scott Syndrome 57
2124 ENC044 Enchondromatosis, Multiple, Ollier Type 57
2125 c LSS005 Lissencephaly 1 56
2126 DNN002 Donnai-Barrow Syndrome 56