# |
Family |
MCID |
Name |
MIFTS |
1 |
|
FTL028 |
Fetal Retinoid Syndrome |
14 |
2 |
P
|
PRG092 |
Pregnancy Loss, Recurrent 1 |
41 |
3 |
P
|
PRM252 |
Preimplantation Embryonic Lethality 1 |
25 |
4 |
|
TWN001 |
Twin-to-Twin Transfusion Syndrome |
46 |
5 |
|
NCH001 |
Nuchal Bleb, Familial |
24 |
6 |
c
|
RHB023 |
Rhabdomyosarcoma, Embryonal, 1 |
45 |
7 |
|
EMB006 |
Embryonal Testis Carcinoma |
31 |
8 |
|
CHL043 |
Childhood Embryonal Testis Carcinoma |
8 |
9 |
|
PDT006 |
Pediatric Cns Embryonal Cell Carcinoma |
7 |
10 |
P
|
EMB005 |
Embryonal Rhabdomyosarcoma |
53 |
11 |
|
FTL004 |
Fetal Erythroblastosis |
32 |
12 |
|
OVR050 |
Ovarian Embryonal Carcinoma |
31 |
13 |
|
CHL026 |
Childhood Ovarian Embryonal Carcinoma |
8 |
14 |
c
|
ADL007 |
Adult Central Nervous System Embryonal Carcinoma |
7 |
15 |
|
FTL066 |
Fetal Akinesia Syndrome, X-Linked |
14 |
16 |
|
FTL011 |
Fetal Aminopterin Syndrome |
11 |
17 |
|
ACT091 |
Acitretin Embryopathy |
7 |
18 |
|
CHL153 |
Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified |
4 |
19 |
|
INT309 |
Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin |
24 |
20 |
P
|
PRS062 |
Persistent Hyperplastic Primary Vitreous |
48 |
21 |
|
ORB002 |
Orbit Embryonal Rhabdomyosarcoma |
29 |
22 |
|
INT041 |
Intratubular Embryonal Carcinoma |
26 |
23 |
|
GRM001 |
Germ Cell and Embryonal Cancer |
25 |
24 |
c
|
RHB021 |
Rhabdomyosarcoma, Embryonal, 2 |
24 |
25 |
c
|
PRM251 |
Preimplantation Embryonic Lethality 2 |
16 |
26 |
|
PRS010 |
Prostate Embryonal Rhabdomyosarcoma |
26 |
27 |
|
MTR016 |
Maternal Hyperphenylalaninemia |
19 |
28 |
c
|
FTL035 |
Fetal Hemoglobin Quantitative Trait Locus 3 |
15 |
29 |
|
CRD031 |
Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification |
8 |
30 |
|
EMB001 |
Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma |
6 |
31 |
|
VLV013 |
Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma |
5 |
32 |
|
NNC014 |
Non-Central Nervous System-Localized Embryonal Carcinoma |
5 |
33 |
|
GCH018 |
Gaucher Disease, Perinatal Lethal |
41 |
34 |
|
ALC001 |
Alcohol-Related Birth Defect |
36 |
35 |
|
PRM208 |
Parameningeal Embryonal Rhabdomyosarcoma |
28 |
36 |
|
PRT001 |
Partial Fetal Alcohol Syndrome |
21 |
37 |
|
FTL021 |
Fetal Macrosomia |
41 |
38 |
|
HRD180 |
Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
26 |
39 |
|
FTL005 |
Fetal Adenoma |
21 |
40 |
|
CCN012 |
Cocaine Antenatal Exposure |
14 |
41 |
|
NNT022 |
Neonatal Ovarian Cyst |
14 |
42 |
|
FTL048 |
Fetal Lung Interstitial Tumor |
12 |
43 |
c
|
FTL034 |
Fetal Hemoglobin Quantitative Trait Locus 4 |
11 |
44 |
|
THY113 |
Thymic Aplasia with Fetal Death |
8 |
45 |
|
MXD015 |
Mixed Type Rhabdomyosarcoma |
5 |
46 |
|
SMT021 |
Somatomedin, Embryonic |
4 |
47 |
|
FTL063 |
Fetal Nicotine Spectrum Disorder |
3 |
48 |
|
FTL020 |
Fetal Left Ventricular Aneurysm |
3 |
49 |
|
FTL025 |
Fetal Parainfluenza Virus Type 3 Syndrome |
1 |
50 |
|
FTL027 |
Fetal Phenothiazine Syndrome |
1 |
51 |
P
|
HRT032 |
Heart Disease |
81 |
52 |
c
|
FNC027 |
Fanconi Anemia, Complementation Group a |
81 |
53 |
|
PFF001 |
Pfeiffer Syndrome |
77 |
54 |
P
|
JBR020 |
Joubert Syndrome 1 |
74 |
55 |
P
|
ALG028 |
Alagille Syndrome 1 |
73 |
56 |
|
SCH036 |
Scheie Syndrome |
73 |
57 |
P
|
DMN001 |
Diamond-Blackfan Anemia |
71 |
58 |
|
CNT097 |
Central Hypoventilation Syndrome, Congenital |
70 |
59 |
P
|
MCP040 |
Mucopolysaccharidosis-Plus Syndrome |
70 |
60 |
P
|
CCK001 |
Cockayne Syndrome |
68 |
61 |
P
|
OCL013 |
Oculodentodigital Dysplasia |
67 |
62 |
P
|
ART062 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
65 |
63 |
P
|
HYP055 |
Hypoplastic Left Heart Syndrome |
65 |
64 |
|
HTC003 |
Hutchinson-Gilford Progeria Syndrome |
65 |
65 |
c
|
MCL013 |
Mucolipidosis Iv |
65 |
66 |
P
|
PTT014 |
Pitt-Hopkins Syndrome |
64 |
67 |
|
INC021 |
Incontinentia Pigmenti |
63 |
68 |
|
RBR002 |
Roberts-Sc Phocomelia Syndrome |
63 |
69 |
P
|
CRB048 |
Cerebral Cavernous Malformations |
63 |
70 |
P
|
THN009 |
Thanatophoric Dysplasia, Type I |
63 |
71 |
|
CSY001 |
C Syndrome |
61 |
72 |
|
CRT002 |
Cartilage-Hair Hypoplasia |
60 |
73 |
P
|
STC001 |
Stickler Syndrome |
60 |
74 |
c
|
MCL046 |
Mucolipidosis Iii Alpha/beta |
60 |
75 |
P
|
VND007 |
Van Der Woude Syndrome 1 |
60 |
76 |
|
CFF002 |
Coffin-Lowry Syndrome |
60 |
77 |
|
SCR020 |
Sacral Defect with Anterior Meningocele |
59 |
78 |
P
|
CMR001 |
Camurati-Engelmann Disease |
59 |
79 |
P
|
PLY006 |
Polydactyly |
59 |
80 |
P
|
VNT002 |
Ventricular Septal Defect |
58 |
81 |
c
|
SPN309 |
Spinocerebellar Ataxia 6 |
58 |
82 |
|
PRL032 |
Perlman Syndrome |
57 |
83 |
|
ANN002 |
Anencephaly |
57 |
84 |
|
MLT134 |
Multiple Pterygium Syndrome, Lethal Type |
56 |
85 |
|
MRS002 |
Marshall Syndrome |
56 |
86 |
|
PRN038 |
Prune Belly Syndrome |
56 |
87 |
|
MWT001 |
Mowat-Wilson Syndrome |
55 |
88 |
P
|
MCR258 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
55 |
89 |
|
KBG001 |
Kbg Syndrome |
54 |
90 |
P
|
FML012 |
Familial Partial Lipodystrophy |
54 |
91 |
c
|
SMP007 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
54 |
92 |
|
DNR002 |
Duane-Radial Ray Syndrome |
54 |
93 |
c
|
LTH007 |
Lethal Congenital Contracture Syndrome 1 |
53 |
94 |
|
KGM001 |
Kagami-Ogata Syndrome |
53 |
95 |
P
|
DNR001 |
Duane Retraction Syndrome |
53 |
96 |
|
MLL018 |
Miller-Dieker Lissencephaly Syndrome |
52 |
97 |
|
OPT054 |
Opitz-Kaveggia Syndrome |
52 |
98 |
P
|
ART018 |
Aortic Valve Insufficiency |
52 |
99 |
|
WLM014 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome |
52 |
100 |
|
FRY006 |
Fryns Microphthalmia Syndrome |
52 |
101 |
P
|
NNT058 |
Neonatal Diabetes |
52 |
102 |
P
|
KLN006 |
Koolen-De Vries Syndrome |
51 |
103 |
|
MGL038 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
51 |
104 |
|
HYP088 |
Hyper-Igd Syndrome |
51 |
105 |
|
OLG003 |
Oligohydramnios |
51 |
106 |
P
|
RBN002 |
Robinow Syndrome |
51 |
107 |
|
LBS001 |
Lubs X-Linked Mental Retardation Syndrome |
50 |
108 |
|
CHR005 |
Chorioamnionitis |
50 |
109 |
|
ABL002 |
Ablepharon-Macrostomia Syndrome |
50 |
110 |
P
|
NNN037 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair |
50 |
111 |
c
|
BRC079 |
Brachydactyly, Type A2 |
50 |
112 |
c
|
BRC051 |
Brachydactyly, Type B1 |
50 |
113 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
50 |
114 |
|
YNS002 |
Yunis-Varon Syndrome |
50 |
115 |
|
MTP034 |
Metaphyseal Chondrodysplasia, Jansen Type |
50 |
116 |
|
INC018 |
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia |
50 |
117 |
|
AGN003 |
Agenesis of the Corpus Callosum with Peripheral Neuropathy |
50 |
118 |
c
|
VNM003 |
Van Maldergem Syndrome 1 |
50 |
119 |
c
|
MCK032 |
Meckel Syndrome, Type 3 |
49 |
120 |
|
VSD002 |
Vas Deferens, Congenital Bilateral Aplasia of |
49 |
121 |
c
|
AXN009 |
Axenfeld-Rieger Syndrome, Type 1 |
49 |
122 |
P
|
SMP003 |
Simpson-Golabi-Behmel Syndrome |
49 |
123 |
P
|
OVR082 |
Overgrowth Syndrome |
49 |
124 |
|
MLT145 |
Multiple Enchondromatosis, Maffucci Type |
49 |
125 |
|
HYP789 |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
49 |
126 |
c
|
FNC048 |
Fanconi Anemia, Complementation Group O |
49 |
127 |
|
PLC008 |
Placenta Disease |
49 |
128 |
c
|
HLP024 |
Holoprosencephaly 2 |
49 |
129 |
c
|
BRD011 |
Bardet-Biedl Syndrome 10 |
49 |
130 |
|
CNT056 |
Cantu Syndrome |
48 |
131 |
|
CHN065 |
Choanal Atresia, Posterior |
48 |
132 |
c
|
SCK009 |
Seckel Syndrome 1 |
48 |
133 |
|
ECT061 |
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant |
48 |
134 |
|
SHR098 |
Short-Rib Thoracic Dysplasia 12 |
48 |
135 |
c
|
HLP026 |
Holoprosencephaly 3 |
48 |
136 |
c
|
JBR012 |
Joubert Syndrome 5 |
47 |
137 |
|
PLC007 |
Placental Abruption |
47 |
138 |
|
LBR025 |
Lobar Holoprosencephaly |
47 |
139 |
|
CRR002 |
Currarino Syndrome |
47 |
140 |
c
|
MCK012 |
Meckel Syndrome, Type 6 |
46 |
141 |
P
|
MGL030 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
46 |
142 |
|
PLY012 |
Polyhydramnios |
46 |
143 |
|
PRL023 |
Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome |
46 |
144 |
c
|
FNC047 |
Fanconi Anemia, Complementation Group Q |
46 |
145 |
|
MCR209 |
Microcephaly, Epilepsy, and Diabetes Syndrome |
46 |
146 |
P
|
SPN081 |
Spondylocostal Dysostosis, Autosomal Recessive |
46 |
147 |
c
|
SPN312 |
Spinocerebellar Ataxia 14 |
46 |
148 |
|
ALB014 |
Alobar Holoprosencephaly |
46 |
149 |
c
|
OPT051 |
Opitz Gbbb Syndrome, Type I |
46 |
150 |
|
NNC002 |
Nance-Horan Syndrome |
46 |
151 |
c
|
MCK031 |
Meckel Syndrome, Type 2 |
45 |
152 |
|
ACR012 |
Aicardi Syndrome |
45 |
153 |
c
|
JBR014 |
Joubert Syndrome 9 |
45 |
154 |
c
|
TLN011 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
45 |
155 |
c
|
MCK014 |
Meckel Syndrome, Type 5 |
45 |
156 |
P
|
PLY148 |
Polydactyly, Preaxial Ii |
45 |
157 |
P
|
CMM008 |
Communicating Hydrocephalus |
45 |
158 |
|
WHT019 |
White-Sutton Syndrome |
44 |
159 |
|
MCR359 |
Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss |
44 |
160 |
|
PLC001 |
Placenta Accreta |
44 |
161 |
c
|
EPP014 |
Epiphyseal Dysplasia, Multiple, 4 |
44 |
162 |
|
MCR173 |
Microform Holoprosencephaly |
44 |
163 |
c
|
GLP003 |
Geleophysic Dysplasia 1 |
44 |
164 |
c
|
RHZ014 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
44 |
165 |
c
|
SHR067 |
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly |
44 |
166 |
c
|
BRC109 |
Brachydactyly, Type E1 |
43 |
167 |
c
|
RNG023 |
Ring Chromosome 7 |
43 |
168 |
|
DXT002 |
Dextrocardia with Situs Inversus |
43 |
169 |
P
|
CHN044 |
Chondrodysplasia Punctata Syndrome |
43 |
170 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
43 |
171 |
|
CYN002 |
Cyanosis, Transient Neonatal |
43 |
172 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
43 |
173 |
P
|
SYN075 |
Syngnathia |
43 |
174 |
|
MYH012 |
Myhre Syndrome |
43 |
175 |
P
|
ANX007 |
Anauxetic Dysplasia 1 |
42 |
176 |
c
|
GLL038 |
Galloway-Mowat Syndrome 1 |
42 |
177 |
|
CHR659 |
Chromosome 22q11.2 Duplication Syndrome |
42 |
178 |
c
|
SPN100 |
Spinocerebellar Ataxia 27 |
41 |
179 |
c
|
MCR114 |
Microphthalmia, Isolated 3 |
41 |
180 |
|
ISL121 |
Isolated Split Hand-Split Foot Malformation |
41 |
181 |
c
|
PTT030 |
Pitt-Hopkins-Like Syndrome 2 |
41 |
182 |
|
BLD129 |
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex |
41 |
183 |
|
CRN212 |
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome |
41 |
184 |
c
|
AML057 |
Amelogenesis Imperfecta, Type Iiia |
41 |
185 |
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
41 |
186 |
|
HYP682 |
Hypertelorism, Teebi Type |
40 |
187 |
c
|
BRD021 |
Bardet-Biedl Syndrome 9 |
40 |
188 |
|
VND005 |
Van Den Ende-Gupta Syndrome |
40 |
189 |
|
THR017 |
Thoracoabdominal Syndrome |
40 |
190 |
|
OLV004 |
Oliver-Mcfarlane Syndrome |
40 |
191 |
c
|
CNG033 |
Congenital Syphilis |
40 |
192 |
P
|
MNN007 |
Meningocele |
39 |
193 |
|
FRY002 |
Fryns Syndrome |
39 |
194 |
c
|
SYN059 |
Syndactyly, Type V |
39 |
195 |
P
|
RNG032 |
Ring Chromosome |
39 |
196 |
|
48X005 |
48,xyyy |
39 |
197 |
c
|
GLP004 |
Geleophysic Dysplasia 2 |
39 |
198 |
c
|
CNG404 |
Congenital Heart Defects, Multiple Types, 4 |
39 |
199 |
c
|
CTR115 |
Cataract 16, Multiple Types |
39 |
200 |
P
|
SYN012 |
Synpolydactyly |
38 |
201 |
|
HYP636 |
Hypocalcemic Vitamin D-Dependent Rickets |
38 |
202 |
|
CLF053 |
Cleft Palate with or Without Ankyloglossia, X-Linked |
38 |
203 |
c
|
DMN006 |
Diamond-Blackfan Anemia 3 |
38 |
204 |
c
|
DVL044 |
Developmental and Epileptic Encephalopathy 16 |
38 |
205 |
|
CRP035 |
Corpus Callosum, Partial Agenesis of, X-Linked |
38 |
206 |
|
TRP014 |
Triploidy |
38 |
207 |
c
|
HTR021 |
Heterotaxy, Visceral, 5, Autosomal |
38 |
208 |
|
PLC009 |
Placenta Praevia |
38 |
209 |
P
|
TRC031 |
Trichorhinophalangeal Syndrome |
38 |
210 |
|
SCR035 |
Sacral Agenesis with Vertebral Anomalies |
38 |
211 |
c
|
SPL034 |
Split-Hand/foot Malformation 4 |
37 |
212 |
|
MCR099 |
Microlissencephaly |
37 |
213 |
|
ALG027 |
Al-Gazali-Bakalinova Syndrome |
37 |
214 |
c
|
SCK010 |
Seckel Syndrome 4 |
37 |
215 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
37 |
216 |
c
|
AML020 |
Amelogenesis Imperfecta, Type Iv |
37 |
217 |
c
|
MND002 |
Mandibuloacral Dysplasia with Type B Lipodystrophy |
37 |
218 |
c
|
CTR181 |
Cataract 18 |
37 |
219 |
|
PLY100 |
Polyploidy |
36 |
220 |
|
EPP011 |
Epiphyseal Chondrodysplasia, Miura Type |
36 |
221 |
c
|
SYN084 |
Synpolydactyly 1 |
36 |
222 |
c
|
PRX055 |
Peroxisome Biogenesis Disorder 11a |
36 |
223 |
P
|
LSS024 |
Lissencephaly with Cerebellar Hypoplasia |
36 |
224 |
c
|
ECT041 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
36 |
225 |
c
|
DVL052 |
Developmental and Epileptic Encephalopathy 26 |
36 |
226 |
|
HYP206 |
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive |
36 |
227 |
|
HYP351 |
Hypertrichosis Universalis Congenita, Ambras Type |
35 |
228 |
c
|
DMN017 |
Diamond-Blackfan Anemia 10 |
35 |
229 |
c
|
VNM002 |
Van Maldergem Syndrome 2 |
35 |
230 |
P
|
MXD016 |
Mixed Gonadal Dysgenesis |
35 |
231 |
|
SHR109 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities |
35 |
232 |
c
|
B4G002 |
B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
35 |
233 |
P
|
SYN165 |
Syndromic Microphthalmia |
34 |
234 |
|
CHR381 |
Chromosome 17q23.1-Q23.2 Deletion Syndrome |
34 |
235 |
|
ISL096 |
Isolated Klippel-Feil Syndrome |
34 |
236 |
|
CHR501 |
Chromosome 17q12 Deletion Syndrome |
34 |
237 |
|
EMN001 |
Emanuel Syndrome |
34 |
238 |
|
CHR396 |
Chromosome 2p16.1-P15 Deletion Syndrome |
34 |
239 |
|
MCR355 |
Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy |
34 |
240 |
c
|
BRC075 |
Brachydactyly, Type A1, C |
34 |
241 |
c
|
BTH006 |
Bethlem Myopathy 2 |
33 |
242 |
|
ISL109 |
Isolated Cleft Lip |
33 |
243 |
c
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
33 |
244 |
|
SDD002 |
Sudden Infant Death with Dysgenesis of the Testes Syndrome |
33 |
245 |
P
|
ACR072 |
Acrorenal Syndrome |
33 |
246 |
c
|
XLN227 |
X-Linked Chondrodysplasia Punctata 1 |
33 |
247 |
c
|
EHL072 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
33 |
248 |
|
ISL011 |
Isolated Aniridia |
33 |
249 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
33 |
250 |
c
|
BRT029 |
Brittle Cornea Syndrome 2 |
33 |
251 |
|
PRT049 |
Partial Deletion of Y |
33 |
252 |
P
|
RTS001 |
Ritscher-Schinzel Syndrome |
33 |
253 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
33 |
254 |
|
SYN063 |
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction |
33 |
255 |
|
SLF015 |
Self-Improving Collodion Baby |
33 |
256 |
|
BRC004 |
Brachydactyly-Syndactyly Syndrome |
32 |
257 |
c
|
MCR329 |
Microcephaly, Autosomal Dominant |
32 |
258 |
c
|
AXN012 |
Axenfeld-Rieger Syndrome, Type 2 |
32 |
259 |
|
JBR032 |
Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy |
32 |
260 |
c
|
VCT004 |
Vacterl Association with Hydrocephalus |
32 |
261 |
c
|
MCR322 |
Microcephaly 18, Primary, Autosomal Dominant |
32 |
262 |
|
HYP223 |
Hypoplastic Right Heart Syndrome |
32 |
263 |
|
PRG080 |
Progressive Non-Infectious Anterior Vertebral Fusion |
32 |
264 |
|
HYP638 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
32 |
265 |
c
|
PRM022 |
Primary Syphilis |
32 |
266 |
|
MCR321 |
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation |
32 |
267 |
c
|
THR069 |
Three M Syndrome 2 |
32 |
268 |
c
|
NLD012 |
Nail Disorder, Nonsyndromic Congenital, 3 |
32 |
269 |
|
CHN019 |
Chand Syndrome |
32 |
270 |
c
|
DYS039 |
Dyskeratosis Congenita Autosomal Dominant |
31 |
271 |
P
|
CMP072 |
Camptodactyly Syndrome, Guadalajara, Type I |
31 |
272 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
31 |
273 |
c
|
DMN049 |
Diamond-Blackfan Anemia 20 |
31 |
274 |
|
SPN012 |
Spindle Cell Hemangioma |
31 |
275 |
c
|
CTR185 |
Cataract 30 |
31 |
276 |
c
|
DVL067 |
Developmental and Epileptic Encephalopathy 42 |
31 |
277 |
c
|
DBT064 |
Diabetes Mellitus, Transient Neonatal, 1 |
31 |
278 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
31 |
279 |
|
ANM001 |
Anemia of Prematurity |
31 |
280 |
c
|
ERL002 |
Early Congenital Syphilis |
31 |
281 |
c
|
NNN025 |
Noonan Syndrome 10 |
30 |
282 |
|
FCL090 |
Facial Cleft |
30 |
283 |
|
NNT005 |
Neonatal Candidiasis |
30 |
284 |
c
|
RNG004 |
Ring Chromosome 1 |
30 |
285 |
|
ATR088 |
Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects |
30 |
286 |
|
CRT069 |
Cortical Malformations, Occipital |
30 |
287 |
c
|
MRG010 |
Meier-Gorlin Syndrome 3 |
30 |
288 |
c
|
ICH023 |
Ichthyosis, Acquired |
30 |
289 |
c
|
HTR010 |
Heterotaxy, Visceral, 4, Autosomal |
30 |
290 |
c
|
HYP523 |
Hypogonadotropic Hypogonadism 14 with or Without Anosmia |
30 |
291 |
|
PLY036 |
Polyembryoma |
30 |
292 |
|
INF021 |
Infant Gynecomastia |
30 |
293 |
c
|
SPL025 |
Split-Hand/foot Malformation 5 |
30 |
294 |
c
|
SCK032 |
Seckel Syndrome 6 |
30 |
295 |
c
|
PLY149 |
Polydactyly, Preaxial Iv |
30 |
296 |
|
AML065 |
Amelia |
29 |
297 |
|
TTR012 |
Tetrasomy 9p |
29 |
298 |
c
|
RNG018 |
Ring Chromosome 22 |
29 |
299 |
|
LWR019 |
Lowry-Wood Syndrome |
29 |
300 |
c
|
MCR314 |
Microcephaly 16, Primary, Autosomal Recessive |
29 |
301 |
|
CNG437 |
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay |
29 |
302 |
|
WRF003 |
Warfarin Syndrome |
29 |
303 |
|
RHM015 |
Rhombencephalosynapsis |
29 |
304 |
|
MCR302 |
Macrostomia, Isolated |
29 |
305 |
c
|
USH030 |
Usher Syndrome, Type Ik |
29 |
306 |
c
|
HYP511 |
Hypogonadotropic Hypogonadism 15 with or Without Anosmia |
29 |
307 |
c
|
MCR259 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 |
29 |
308 |
|
CRL006 |
Caroli Disease, Isolated |
28 |
309 |
c
|
AML018 |
Amelogenesis Imperfecta, Type Ic |
28 |
310 |
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
28 |
311 |
c
|
MLT141 |
Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly |
28 |
312 |
|
MTR087 |
Maternal Uniparental Disomy |
28 |
313 |
c
|
DMN005 |
Diamond-Blackfan Anemia 2 |
28 |
314 |
c
|
MCR356 |
Microcephaly 19, Primary, Autosomal Recessive |
28 |
315 |
|
HYP728 |
Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia |
28 |
316 |
P
|
ISL029 |
Isolated Anorectal Malformation |
28 |
317 |
|
CHR366 |
Chromosome 5p13 Duplication Syndrome |
28 |
318 |
|
CRP028 |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
28 |
319 |
|
SPN328 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
28 |
320 |
|
MSM016 |
Mesomelic Dysplasia, Kantaputra Type |
28 |
321 |
|
MCR326 |
Microcephaly-Micromelia Syndrome |
27 |
322 |
c
|
CNG388 |
Congenital Disorder of Glycosylation, Type Iw |
27 |
323 |
|
NRL025 |
Neural Tube Closure Defect |
27 |
324 |
c
|
PRX047 |
Peroxisome Biogenesis Disorder 5b |
27 |
325 |
|
SPL056 |
Split-Foot Deformity with Mandibulofacial Dysostosis |
27 |
326 |
|
NSP016 |
Nasopalpebral Lipoma-Coloboma Syndrome |
27 |
327 |
c
|
HYP532 |
Hypogonadotropic Hypogonadism 18 with or Without Anosmia |
27 |
328 |
|
CBB002 |
Cobb Syndrome |
27 |
329 |
|
CHR209 |
Chromosome 17p Duplication |
27 |
330 |
|
CHR268 |
Chromosome 8q Duplication |
27 |
331 |
c
|
FRN032 |
Frontonasal Dysplasia 3 |
27 |
332 |
c
|
PSD107 |
Pseudo-Torch Syndrome 2 |
27 |
333 |
P
|
TRS029 |
Trisomy 1q |
27 |
334 |
|
CHR621 |
Chromosome 16p11.2 Deletion Syndrome, 593-Kb |
27 |
335 |
c
|
BRC108 |
Brachydactyly, Type A3 |
27 |
336 |
c
|
DYS040 |
Dyskeratosis Congenita Autosomal Recessive |
27 |
337 |
|
49X001 |
49, Xxxxx |
27 |
338 |
|
RCM003 |
Recombinant Chromosome 8 Syndrome |
27 |
339 |
|
CHR498 |
Chromosome 16p11.2 Duplication Syndrome |
27 |
340 |
c
|
DMN019 |
Diamond-Blackfan Anemia 4 |
27 |
341 |
|
ISL089 |
Isolated Scaphocephaly |
26 |
342 |
|
SZR027 |
Seizures, Cortical Blindness, and Microcephaly Syndrome |
26 |
343 |
c
|
ECT064 |
Ectodermal Dysplasia 5, Hair/nail Type |
26 |
344 |
|
BLT009 |
Bilateral Generalized Polymicrogyria |
26 |
345 |
|
DPL007 |
Duplication of Urethra |
26 |
346 |
c
|
DVL091 |
Developmental and Epileptic Encephalopathy 67 |
26 |
347 |
|
CDG001 |
Cdags Syndrome |
26 |
348 |
P
|
PST016 |
Posterior Polar Cataract |
26 |
349 |
c
|
CTR110 |
Cataract 26, Multiple Types |
26 |
350 |
|
CHR010 |
Chorioangioma |
26 |
351 |
|
APR009 |
Aprosencephaly Syndrome |
26 |
352 |
|
ATR053 |
Atresia of Urethra |
26 |
353 |
|
THR032 |
Thoracolaryngopelvic Dysplasia |
26 |
354 |
P
|
MCR327 |
Microcephaly, Short Stature, and Limb Abnormalities |
26 |
355 |
|
LMB076 |
Lumbar Syndrome |
25 |
356 |
P
|
ACR093 |
Acrofrontofacionasal Dysostosis |
25 |
357 |
|
NRN022 |
Neurenteric Cyst |
25 |
358 |
|
CHR212 |
Chromosome 18p Duplication |
25 |
359 |
c
|
MCK035 |
Meckel Syndrome, Type 10 |
25 |
360 |
|
ULN023 |
Ulnar Hypoplasia |
25 |
361 |
c
|
MRG015 |
Meier-Gorlin Syndrome 7 |
25 |
362 |
c
|
CTR116 |
Cataract 15, Multiple Types |
25 |
363 |
c
|
DVL088 |
Developmental and Epileptic Encephalopathy 64 |
25 |
364 |
|
HYP717 |
Hypotonia, Infantile, with Psychomotor Retardation |
25 |
365 |
|
CRN266 |
Craniofacial Dyssynostosis with Short Stature |
25 |
366 |
c
|
SYM019 |
Symphalangism, Proximal, 1b |
25 |
367 |
|
ATR017 |
Atrial Septal Defect Coronary Sinus |
25 |
368 |
c
|
DBT013 |
Diabetes Mellitus, 6q24-Related Transient Neonatal |
25 |
369 |
|
CLF046 |
Cleft Lip/palate with Abnormal Thumbs and Microcephaly |
25 |
370 |
|
KLP016 |
Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism |
25 |
371 |
c
|
JBR040 |
Joubert Syndrome 30 |
25 |
372 |
c
|
MNS008 |
Monosomy 21 |
25 |
373 |
|
GNT043 |
Genitopalatocardiac Syndrome |
25 |
374 |
c
|
MGL028 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
25 |
375 |
c
|
HYP820 |
Hypogonadotropic Hypogonadism 22 with or Without Anosmia |
24 |
376 |
c
|
DVL068 |
Developmental and Epileptic Encephalopathy 43 |
24 |
377 |
c
|
TRS012 |
Trisomy 22 |
24 |
378 |
c
|
SPN254 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
24 |
379 |
c
|
JBR021 |
Joubert Syndrome 18 |
24 |
380 |
c
|
VNT024 |
Ventricular Septal Defect 3 |
24 |
381 |
c
|
LTH030 |
Lethal Congenital Contracture Syndrome 8 |
24 |
382 |
c
|
BLP049 |
Blepharocheilodontic Syndrome 2 |
24 |
383 |
c
|
PK3004 |
Pik3ca-Related Overgrowth Spectrum |
24 |
384 |
|
CMP035 |
Complete Atrioventricular Canal |
24 |
385 |
c
|
CNG521 |
Congenital Heart Defects, Multiple Types, 5 |
24 |
386 |
c
|
ORF025 |
Orofacial Cleft 6 |
24 |
387 |
c
|
ORF047 |
Orofacial Cleft 15 |
24 |
388 |
c
|
LKD027 |
Leukodystrophy, Hypomyelinating, 14 |
24 |
389 |
c
|
MCK036 |
Meckel Syndrome, Type 9 |
24 |
390 |
c
|
VNT026 |
Ventricular Septal Defect 2 |
24 |
391 |
c
|
MCR360 |
Microcephaly 20, Primary, Autosomal Recessive |
24 |
392 |
c
|
MLT142 |
Multiple Epiphyseal Dysplasia, Autosomal Dominant |
23 |
393 |
|
ADD006 |
Adducted Thumbs Syndrome |
23 |
394 |
|
FMR017 |
Femur, Unilateral Bifid, with Monodactylous Ectrodactyly |
23 |
395 |
c
|
DBT044 |
Diabetes Mellitus, Transient Neonatal, 3 |
23 |
396 |
c
|
SCK037 |
Seckel Syndrome 9 |
23 |
397 |
|
SPN228 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
23 |
398 |
|
AXL004 |
Axial Mesodermal Dysplasia Spectrum |
23 |
399 |
|
CHR616 |
Chromosome 19q13.11 Deletion Syndrome, Distal |
23 |
400 |
|
SPN141 |
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech |
23 |
401 |
|
ATR055 |
Atrial Septal Aneurysm |
23 |
402 |
c
|
ACR105 |
Acrofrontofacionasal Dysostosis 2 |
23 |
403 |
c
|
HTR020 |
Heterotaxy, Visceral, 8, Autosomal |
23 |
404 |
|
SPL054 |
Splenogonadal Fusion with Limb Defects and Micrognathia |
22 |
405 |
c
|
ERL044 |
Early-Onset Posterior Polar Cataract |
22 |
406 |
P
|
UNP013 |
Uniparental Disomy of Chromosome 1 |
22 |
407 |
|
PLR024 |
Pilarowski-Bjornsson Syndrome |
22 |
408 |
c
|
RNG015 |
Ring Chromosome 2 |
22 |
409 |
|
RGH010 |
Right Ventricular Hypoplasia, Isolated |
22 |
410 |
|
SPN446 |
Spondylometaphyseal Dysplasia with Corneal Dystrophy |
22 |
411 |
c
|
CNG616 |
Congenital Heart Defects, Multiple Types, 7 |
22 |
412 |
|
SPN361 |
Spondylometaphyseal Dysplasia, Algerian Type |
21 |
413 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
21 |
414 |
c
|
AML048 |
Amelogenesis Imperfecta, Type Ih |
21 |
415 |
|
TBS009 |
Teebi-Shaltout Syndrome |
21 |
416 |
|
DPR014 |
Diprosopus |
21 |
417 |
|
MNT259 |
Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies |
21 |
418 |
|
MSL005 |
Mseleni Joint Disease |
21 |
419 |
|
INV022 |
Inverted Duplicated Chromosome 15 Syndrome |
21 |
420 |
|
CNG009 |
Congenital Aortic Valve Stenosis |
21 |
421 |
c
|
46X080 |
46,xx Sex Reversal 5 |
21 |
422 |
c
|
TLN010 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
21 |
423 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
21 |
424 |
|
PLV015 |
Pelvis-Shoulder Dysplasia |
21 |
425 |
|
CRB062 |
Cerebellar Hypoplasia with Endosteal Sclerosis |
21 |
426 |
c
|
OVR119 |
Ovarian Dysgenesis 7 |
21 |
427 |
|
CHR620 |
Chromosome 16p11.2 Deletion Syndrome, 220-Kb |
21 |
428 |
c
|
NNP017 |
Nanophthalmos 1 |
21 |
429 |
|
MSM019 |
Mesomelic Dysplasia, Savarirayan Type |
21 |
430 |
|
CHR507 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
21 |
431 |
|
CMP077 |
Composite Hemangioendothelioma |
21 |
432 |
|
ERY043 |
Euryblepharon |
21 |
433 |
P
|
PTR018 |
Paternal Uniparental Disomy of Chromosome 6 |
21 |
434 |
c
|
SPN417 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
21 |
435 |
c
|
HRN024 |
Horner Syndrome, Congenital |
21 |
436 |
|
ACH039 |
Achalasia-Microcephaly Syndrome |
21 |
437 |
|
TTR018 |
Tetragametic Chimerism |
20 |
438 |
c
|
OVR115 |
Ovarian Dysgenesis 5 |
20 |
439 |
|
DST045 |
Distal Trisomy 6p |
20 |
440 |
|
INT231 |
Intellectual Disability - Athetosis - Microphthalmia |
20 |
441 |
c
|
46X046 |
46,xy Sex Reversal 4 |
20 |
442 |
|
ATK002 |
Atkin-Flaitz Syndrome |
20 |
443 |
|
CLV012 |
Clavicle, Pseudarthrosis of, Congenital |
20 |
444 |
|
MLT173 |
Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability |
20 |
445 |
|
ERL042 |
Early-Onset Partial Cataract |
20 |
446 |
c
|
PRD022 |
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 |
20 |
447 |
c
|
MGL035 |
Megalencephaly, Autosomal Dominant |
20 |
448 |
c
|
CTR160 |
Cataract 45 |
20 |
449 |
|
CRB164 |
Cerebrooculonasal Syndrome |
20 |
450 |
c
|
CTR139 |
Cataract 42 |
20 |
451 |
|
NNS061 |
Non-Syndromic Pontocerebellar Hypoplasia |
20 |
452 |
|
CMP039 |
Camptodactyly 1 |
20 |
453 |
|
SBP003 |
Subependymal Nodular Heterotopia |
20 |
454 |
|
13Q001 |
13q12.3 Microdeletion Syndrome |
20 |
455 |
|
FBR087 |
Fibromatosis, Gingival, with Distinctive Facies |
20 |
456 |
|
LVC002 |
Levocardia |
20 |
457 |
|
UNL006 |
Unilateral Focal Polymicrogyria |
19 |
458 |
|
SPN349 |
Spondylometaphyseal Dysplasia, Type A4 |
19 |
459 |
c
|
BRC105 |
Brachydactyly, Type A1, D |
19 |
460 |
|
PTR034 |
Paternal Uniparental Disomy |
19 |
461 |
c
|
DVL108 |
Developmental and Epileptic Encephalopathy 86 |
19 |
462 |
|
XQ2003 |
Xq25 Duplication Syndrome |
19 |
463 |
|
MNS012 |
Monostotic Fibrous Dysplasia |
19 |
464 |
|
CHR416 |
Chromosome 17q Deletion |
19 |
465 |
|
HML054 |
Hemolytic Disease Due to Fetomaternal Alloimmunization |
19 |
466 |
|
SPN353 |
Spondylometaphyseal Dysplasia, X-Linked |
19 |
467 |
c
|
MCR362 |
Microcephaly 22, Primary, Autosomal Recessive |
19 |
468 |
|
CHR584 |
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb |
19 |
469 |
|
DYR002 |
Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion |
19 |
470 |
c
|
RNG025 |
Ring Chromosome 9 |
19 |
471 |
|
MTR027 |
Mitral Atresia |
19 |
472 |
c
|
CNG433 |
Congenital Cornea Plana |
19 |
473 |
c
|
RNG019 |
Ring Chromosome 3 |
19 |
474 |
c
|
SPN259 |
Spinocerebellar Ataxia 32 |
19 |
475 |
|
CRB161 |
Cerebellar Ataxia and Ectodermal Dysplasia |
19 |
476 |
|
PCH004 |
Pachygyria, Frontotemporal |
19 |
477 |
|
BRC093 |
Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction |
19 |
478 |
|
EDN001 |
Edinburgh Malformation Syndrome |
18 |
479 |
|
MSC081 |
Mosaic Trisomy 15 |
18 |
480 |
|
DBL007 |
Double Outlet Left Ventricle |
18 |
481 |
|
MLT148 |
Multiple Pterygium Syndrome, X-Linked |
18 |
482 |
|
OMP008 |
Omphalocele-Cleft Palate Syndrome, Lethal |
18 |
483 |
|
KNS006 |
Kniest-Like Dysplasia, Lethal |
18 |
484 |
|
CRV062 |
Cervical Spina Bifida Cystica |
18 |
485 |
|
RHZ012 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
18 |
486 |
P
|
CNG070 |
Congenital Dislocation of the Patella |
18 |
487 |
|
PRR029 |
Pierre Robin Syndrome and Oligodactyly |
18 |
488 |
|
NNR005 |
Non-Rhizomelic Chondrodysplasia Punctata |
18 |
489 |
|
1Q4001 |
1q44 Microdeletion Syndrome |
18 |
490 |
c
|
BLT007 |
Bilateral Frontal Polymicrogyria |
18 |
491 |
c
|
46X050 |
46,xx Sex Reversal 3 |
18 |
492 |
c
|
MTR062 |
Maternal Uniparental Disomy of Chromosome 4 |
18 |
493 |
|
APL028 |
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction |
18 |
494 |
c
|
PLY144 |
Polydactyly, Postaxial, Type A7 |
18 |
495 |
|
ECT085 |
Ectopia Cordis |
18 |
496 |
|
OCL057 |
Oculotrichodysplasia |
18 |
497 |
|
MSC017 |
Mosaic Trisomy 22 |
18 |
498 |
|
ABS020 |
Absent Eyebrows and Eyelashes with Mental Retardation |
18 |
499 |
c
|
DMN048 |
Diamond-Blackfan Anemia 19 |
18 |
500 |
c
|
CNG578 |
Congenital Hemangioma |
18 |
501 |
|
CHR182 |
Chromosome 10p Duplication |
18 |
502 |
|
VRR008 |
Verrucous Hemangioma |
18 |
503 |
|
MSM018 |
Mesomelic Limb Shortening and Bowing |
18 |
504 |
|
SMM003 |
Summitt Syndrome |
18 |
505 |
|
CTS042 |
Cutis Laxa, Neonatal, with Marfanoid Phenotype |
18 |
506 |
|
LMB056 |
Lumbosacral Spina Bifida Cystica |
18 |
507 |
|
FCL064 |
Facial Dysmorphism with Multiple Malformations |
18 |
508 |
c
|
SM1001 |
Sim1-Related Prader-Willi-Like Syndrome |
17 |
509 |
|
7P2001 |
7p22.1 Microduplication Syndrome |
17 |
510 |
|
CLF047 |
Cleft-Limb-Heart Malformation Syndrome |
17 |
511 |
|
MCD004 |
Macdermot-Winter Syndrome |
17 |
512 |
|
SPR065 |
Supernumerary Nostril |
17 |
513 |
|
16P004 |
16p13.11 Microduplication Syndrome |
17 |
514 |
|
LNS008 |
Lens Position Anomaly |
17 |
515 |
c
|
PTS018 |
Ptosis, Hereditary Congenital 1 |
17 |
516 |
c
|
PRG096 |
Pregnancy Loss, Recurrent 2 |
17 |
517 |
|
MYL044 |
Myelocystocele |
17 |
518 |
|
HYP479 |
Hyperinsulinism Due to Hnf4a Deficiency |
17 |
519 |
|
BRC090 |
Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia |
17 |
520 |
|
SPN243 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
17 |
521 |
|
DPH023 |
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull |
17 |
522 |
|
FCL087 |
Facial Infiltrating Lipomatosis |
17 |
523 |
c
|
TTL009 |
Total Spina Bifida Aperta |
17 |
524 |
|
MMB012 |
Membranous Cranial Ossification, Delayed |
17 |
525 |
|
SPN132 |
Spondyloepimetaphyseal Dysplasia with Hypotrichosis |
17 |
526 |
|
CNG491 |
Congenital Portosystemic Shunt |
17 |
527 |
|
DST069 |
Distal Monosomy 12q |
17 |
528 |
|
THY105 |
Thyrocerebroretinal Syndrome |
17 |
529 |
|
THR109 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
17 |
530 |
|
PLY134 |
Polydactyly, Postaxial, with Dental and Vertebral Anomalies |
17 |
531 |
c
|
RNG014 |
Ring Chromosome 19 |
17 |
532 |
c
|
SYN040 |
Synpolydactyly 3 |
17 |
533 |
c
|
MTR061 |
Maternal Uniparental Disomy of Chromosome 6 |
17 |
534 |
|
HYD051 |
Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis |
16 |
535 |
c
|
HYD042 |
Hydrocephalus, Autosomal Dominant |
16 |
536 |
|
MLT144 |
Multiple Epiphyseal Dysplasia with Robin Phenotype |
16 |
537 |
|
CNG330 |
Congenital Megacalycosis |
16 |
538 |
|
PRN057 |
Porencephaly, Cerebellar Hypoplasia, and Internal Malformations |
16 |
539 |
|
DYS135 |
Dysphagia Lusoria |
16 |
540 |
|
PNH003 |
Pinheiro Freire-Maia Miranda Syndrome |
16 |
541 |
|
14Q001 |
14q12 Microdeletion Syndrome |
16 |
542 |
|
ISL133 |
Isolated Epispadias |
16 |
543 |
|
ERL040 |
Early-Onset Sutural Cataract |
16 |
544 |
c
|
PLY184 |
Polydactyly, Postaxial, Type A10 |
16 |
545 |
|
RDL029 |
Radial Ray Hypoplasia with Choanal Atresia |
16 |
546 |
|
NND006 |
Non-Distal Monosomy 20q |
16 |
547 |
c
|
NNS019 |
Nonsyndromic Holoprosencephaly |
16 |
548 |
P
|
ATS469 |
Autosomal Monosomy |
16 |
549 |
|
CLF034 |
Cleft Hard Palate |
16 |
550 |
|
PFF010 |
Pfeiffer-Palm-Teller Syndrome |
16 |
551 |
|
TRS011 |
Trisomy 2 Mosaicism |
16 |
552 |
|
SYM011 |
Symphalangism with Multiple Anomalies of Hands and Feet |
16 |
553 |
c
|
MTR067 |
Maternal Uniparental Disomy of Chromosome 16 |
16 |
554 |
c
|
PTR011 |
Paternal Uniparental Disomy of Chromosome 1 |
16 |
555 |
|
MTP033 |
Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria |
16 |
556 |
|
CLD006 |
Cleidorhizomelic Syndrome |
15 |
557 |
|
CYS047 |
Cystic Fibrosis, Modifier of, 1 |
15 |
558 |
c
|
ANG028 |
Angioma Serpiginosum, Autosomal Dominant |
15 |
559 |
c
|
ORF029 |
Orofacial Cleft 13 |
15 |
560 |
|
PTS017 |
Ptosis, Strabismus, and Ectopic Pupils |
15 |
561 |
|
ECT086 |
Ectrodactyly-Polydactyly |
15 |
562 |
|
PLY132 |
Polysyndactyly, Crossed |
15 |
563 |
|
DSP003 |
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions |
15 |
564 |
|
LRS009 |
Larsen-Like Syndrome, Lethal Type |
15 |
565 |
|
FRS011 |
First Branchial Cleft Anomaly |
15 |
566 |
|
46X015 |
46,xy Ovotesticular Disorder of Sex Development |
15 |
567 |
|
ECT087 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
15 |
568 |
|
PRR030 |
Pierre Robin Sequence with Facial and Digital Anomalies |
15 |
569 |
|
1P2001 |
1p21.3 Microdeletion Syndrome |
15 |
570 |
|
SPN346 |
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability |
15 |
571 |
|
AST010 |
Astley-Kendall Syndrome |
15 |
572 |
|
XP2002 |
Xp22.13p22.2 Duplication Syndrome |
15 |
573 |
|
DLT013 |
Deletion 5q35 |
14 |
574 |
|
49X004 |
49,xyyyy Syndrome |
14 |
575 |
|
PRT161 |
Partial Deletion of the Short Arm of Chromosome 3 |
14 |
576 |
|
RDL028 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema |
14 |
577 |
|
SPN351 |
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition |
14 |
578 |
|
PHK006 |
Phakomatosis Pigmentokeratotica |
14 |
579 |
|
CNS012 |
Cono-Spondylar Dysplasia |
14 |
580 |
P
|
CNG600 |
Congenital Arteriovenous Fistula |
14 |
581 |
|
SXC007 |
Sex-Chromosome Anomaly |
14 |
582 |
|
HYP490 |
Hyperinsulinism Due to Hnf1a Deficiency |
14 |
583 |
|
16P005 |
16p11.2p12.2 Microduplication Syndrome |
14 |
584 |
c
|
CNT108 |
Central Polydactyly |
14 |
585 |
c
|
SX2003 |
Six2-Related Frontonasal Dysplasia |
14 |
586 |
|
HYP660 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
14 |
587 |
c
|
UNP008 |
Uniparental Disomy of Chromosome 15 |
14 |
588 |
|
HYP497 |
Hyperphalangy |
14 |
589 |
|
DRM038 |
Dermotrichic Syndrome |
14 |
590 |
c
|
ORF020 |
Orofacial Cleft 12 |
14 |
591 |
|
16P011 |
16p12.1p12.3 Triplication Syndrome |
14 |
592 |
c
|
UNP007 |
Uniparental Disomy of Chromosome 6 |
14 |
593 |
|
SBM006 |
Submucosal Cleft Palate |
14 |
594 |
|
PRT165 |
Partial Deletion of the Short Arm of Chromosome 7 |
14 |
595 |
|
20Q001 |
20q13.33 Microdeletion Syndrome |
14 |
596 |
|
MSC080 |
Mosaic Trisomy 12 |
14 |
597 |
P
|
LTH050 |
Lethal Chondrodysplasia |
13 |
598 |
c
|
VSC042 |
Vesicoureteral Reflux 5 |
13 |
599 |
c
|
VSC043 |
Vesicoureteral Reflux 6 |
13 |
600 |
|
MCR358 |
Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
13 |
601 |
c
|
ACR115 |
Acrorenal Syndrome, Autosomal Recessive |
13 |
602 |
|
HLL014 |
Hallux Varus and Preaxial Polysyndactyly |
13 |
603 |
c
|
ORF024 |
Orofacial Cleft 9 |
13 |
604 |
|
CHR188 |
Chromosome 11q Duplication |
13 |
605 |
c
|
CTR176 |
Cataract, Age-Related Nuclear |
13 |
606 |
|
CRY037 |
Cryptophthalmia |
13 |
607 |
|
OSS015 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
13 |
608 |
|
ART130 |
Arthrogryposis with Hyperkeratosis |
13 |
609 |
|
GZR001 |
Guizar Vasquez Sanchez Manzano Syndrome |
13 |
610 |
|
PRT184 |
Partial Deletion of the Long Arm of Chromosome 11 |
13 |
611 |
|
ACC011 |
Accessory Mitral Valve Tissue |
13 |
612 |
|
CLF019 |
Cleft Palate Short Stature Vertebral Anomalies |
13 |
613 |
|
MTP017 |
Metaphyseal Chondrodysplasia, Kaitila Type |
13 |
614 |
|
VRT011 |
Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis |
13 |
615 |
|
URC012 |
Urachal Sinus |
13 |
616 |
|
MDR001 |
Medeira-Dennis-Donnai Syndrome |
13 |
617 |
|
MCR295 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
13 |
618 |
|
DST054 |
Distal 17p13.3 Microdeletion Syndrome |
13 |
619 |
|
20Q002 |
20q11.2 Microduplication Syndrome |
13 |
620 |
|
FNG014 |
Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature |
13 |
621 |
|
ANN015 |
Anonychia with Flexural Pigmentation |
13 |
622 |
c
|
PRV013 |
Periventricular Nodular Heterotopia 3 |
13 |
623 |
|
ATX036 |
Ataxia-Photosensitivity-Short Stature Syndrome |
13 |
624 |
P
|
CNG326 |
Congenital Primary Megaureter |
12 |
625 |
|
IMP019 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
12 |
626 |
|
PRT087 |
Parietal Encephalocele |
12 |
627 |
|
XQ1001 |
Xq12-Q13.3 Duplication Syndrome |
12 |
628 |
|
CRN087 |
Craniomicromelic Syndrome |
12 |
629 |
|
PST111 |
Posterior Fossa Malformation |
12 |
630 |
|
LPM011 |
Lip, Median Nodule of Upper |
12 |
631 |
|
CRN204 |
Craniofacial Conodysplasia |
12 |
632 |
c
|
MTR057 |
Maternal Uniparental Disomy of Chromosome X |
12 |
633 |
|
PRT213 |
Partial Duplication of Chromosome 19 |
12 |
634 |
|
CRP029 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
12 |
635 |
|
CNG519 |
Congenital Gerbode Defect |
12 |
636 |
|
PRC041 |
Pericardial and Diaphragmatic Defect |
12 |
637 |
|
MCR285 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
12 |
638 |
|
MTR084 |
Maternal Hyperthermia-Induced Birth Defects |
12 |
639 |
|
PRT186 |
Partial Duplication of the Long Arm of Chromosome X |
12 |
640 |
|
XLN156 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
12 |
641 |
c
|
UNP004 |
Uniparental Disomy of Chromosome 2 |
12 |
642 |
|
INT294 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
12 |
643 |
c
|
PRM168 |
Primary Syringomyelia |
11 |
644 |
P
|
ISL045 |
Isolated Focal Cortical Dysplasia Type I |
11 |
645 |
|
THR083 |
Third Branchial Cleft Anomaly |
11 |
646 |
|
XLN142 |
X-Linked Intellectual Disability, Stevenson Type |
11 |
647 |
|
GLS016 |
Glossopalatine Ankylosis |
11 |
648 |
|
TNN014 |
Tunnel Subaortic Stenosis |
11 |
649 |
c
|
EZH001 |
Ezh2-Related Overgrowth |
11 |
650 |
|
LTR017 |
Lateral Facial Cleft |
11 |
651 |
|
SBC038 |
Sub-Cortical Nodular Heterotopia |
11 |
652 |
|
FRY005 |
Fryns Smeets Thiry Syndrome |
11 |
653 |
|
DYS208 |
Dysostosis with Brachydactyly |
11 |
654 |
|
TRC112 |
Trochlea of the Humerus, Aplasia of |
11 |
655 |
|
ACR121 |
Acromelic Dysplasia |
11 |
656 |
|
CRV060 |
Cervical Dermoid Cyst |
11 |
657 |
|
DPL010 |
Duplication of the Esophagus |
11 |
658 |
c
|
ISL040 |
Isolated Focal Cortical Dysplasia Type Ia |
11 |
659 |
|
46X040 |
46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome |
11 |
660 |
|
MSC084 |
Mosaic Genome-Wide Paternal Uniparental Disomy |
11 |
661 |
|
MSC088 |
Mosaic Trisomy 5 |
10 |
662 |
|
CNG575 |
Congenital Joint Dislocations |
10 |
663 |
|
PRT163 |
Partial Deletion of the Short Arm of Chromosome 5 |
10 |
664 |
|
MSC087 |
Mosaic Trisomy 4 |
10 |
665 |
|
SXC004 |
Sex Chromosome Disorder of Sex Development |
10 |
666 |
|
HYP852 |
Hypocalcemic Rickets |
10 |
667 |
c
|
CHR232 |
Chromosome 21, Uniparental Disomy |
10 |
668 |
|
ODN004 |
Odonto Onycho Dysplasia with Alopecia |
10 |
669 |
|
PRT138 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
10 |
670 |
|
ISC019 |
Ischiovertebral Syndrome |
10 |
671 |
c
|
PTR015 |
Paternal Uniparental Disomy of Chromosome X |
10 |
672 |
|
CNG244 |
Congenital Laryngeal Cyst |
10 |
673 |
|
PRT144 |
Partial Deletion of Chromosome 2 |
10 |
674 |
|
CNG279 |
Congenital Pseudoarthrosis of the Ulna |
10 |
675 |
|
PRT185 |
Partial Deletion of the Long Arm of Chromosome 13 |
10 |
676 |
c
|
HVP001 |
Hivep2-Related Intellectual Disability |
10 |
677 |
|
CRN310 |
Cranial Malformation |
10 |
678 |
|
SYM014 |
Symbrachydactyly of Hands and Feet |
10 |
679 |
|
SPN150 |
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism |
10 |
680 |
|
DST078 |
Distal Trisomy 6q |
10 |
681 |
c
|
EDR001 |
Eed-Related Overgrowth |
10 |
682 |
|
XLN207 |
X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome |
10 |
683 |
c
|
PTR019 |
Paternal Uniparental Disomy of Chromosome 5 |
10 |
684 |
|
PRT162 |
Partial Deletion of the Short Arm of Chromosome 6 |
9 |
685 |
c
|
PRT205 |
Partial Trisomy of the Long Arm of Chromosome 5 |
9 |
686 |
c
|
LRY051 |
Laryngotracheoesophageal Cleft Type 1 |
9 |
687 |
c
|
CHR201 |
Chromosome 16, Uniparental Disomy |
9 |
688 |
|
LWR014 |
Lower Limb Hypertrophy |
9 |
689 |
|
DST085 |
Distal Trisomy 2q |
9 |
690 |
|
PRT153 |
Partial Deletion of Chromosome 11 |
9 |
691 |
|
MCR184 |
Macrodactyly of Fingers |
9 |
692 |
|
CNG278 |
Congenital Pseudoarthrosis of the Radius |
9 |
693 |
|
PRT202 |
Partial Duplication of the Long Arm of Chromosome 6 |
9 |
694 |
|
DYS128 |
Dysplasia of Head of Femur, Meyer Type |
9 |
695 |
|
ISL049 |
Isolated Dandy-Walker Malformation Without Hydrocephalus |
9 |
696 |
c
|
UNP010 |
Uniparental Disomy of Chromosome 13 |
9 |
697 |
P
|
HRN027 |
Hernia, Anterior Diaphragmatic |
9 |
698 |
|
PRT179 |
Partial Deletion of the Long Arm of Chromosome 6 |
9 |
699 |
c
|
ATS403 |
Autosomal Dominant Intellectual Disability 40 |
9 |
700 |
|
MLH001 |
Melhem Fahl Syndrome |
9 |
701 |
|
SYN027 |
Syngnathia Cleft Palate |
9 |
702 |
|
MLT171 |
Multiple Epiphyseal Dysplasia and Pseudoachondroplasia |
9 |
703 |
|
ATS453 |
Autosomal Anomaly |
9 |
704 |
|
PRT169 |
Partial Deletion of the Short Arm of Chromosome 11 |
9 |
705 |
|
PRT236 |
Partial Deletion of the Long Arm of Chromosome 15 |
9 |
706 |
|
2P2002 |
2p21 Microdeletion Syndrome Without Cystinuria |
9 |
707 |
|
ECT107 |
Ectasia of the Left Atrial Appendage |
9 |
708 |
|
PRT159 |
Partial Deletion of the Short Arm of Chromosome 1 |
9 |
709 |
|
PRT218 |
Partial Duplication of the Short Arm of Chromosome 3 |
9 |
710 |
|
ISL047 |
Isolated Unilateral Hemispheric Cerebellar Hypoplasia |
8 |
711 |
|
PRS112 |
Persistent Eustachian Valve |
8 |
712 |
|
PRT207 |
Partial Duplication of the Short Arm of Chromosome 7 |
8 |
713 |
|
PRT219 |
Partial Duplication of the Short Arm of Chromosome 6 |
8 |
714 |
c
|
BRC035 |
Brachydactyly Type A5 |
8 |
715 |
|
PRT166 |
Partial Deletion of the Short Arm of Chromosome 10 |
8 |
716 |
|
PRT145 |
Partial Deletion of Chromosome 3 |
8 |
717 |
|
PRT167 |
Partial Deletion of the Short Arm of Chromosome 9 |
8 |
718 |
|
PRT208 |
Partial Duplication of the Short Arm of Chromosome 8 |
8 |
719 |
|
PRT239 |
Partial Deletion of the Long Arm of Chromosome 18 |
8 |
720 |
|
TRG018 |
Trigonocephaly-Broad Thumbs Syndrome |
8 |
721 |
|
3Q2004 |
3q26 Microduplication Syndrome |
8 |
722 |
|
DST090 |
Distal Trisomy 2p |
8 |
723 |
|
PRT230 |
Partial Duplication of Chromosome 3 |
8 |
724 |
|
PRT225 |
Partial Duplication of Chromosome 17 |
8 |
725 |
|
CNG334 |
Congenital Esophageal Diverticulum |
8 |
726 |
|
CNG586 |
Congenital Tricuspid Valve Dysplasia |
8 |
727 |
|
ISL028 |
Isolated Cerebellar Vermis Hypoplasia |
8 |
728 |
|
ISL108 |
Isolated Splenogonadal Fusion |
8 |
729 |
c
|
ATS360 |
Autosomal Recessive Intellectual Disability 58 |
7 |
730 |
|
BLK004 |
Blake Pouch Cyst |
7 |
731 |
|
PRT226 |
Partial Duplication of Chromosome 16 |
7 |
732 |
|
MCP029 |
Mucopolysaccharidosis Type 6, Rapidly Progressing |
7 |
733 |
P
|
VRC007 |
Varicella, Severe Recurrent |
7 |
734 |
|
PRT199 |
Partial Duplication of the Long Arm of Chromosome 13 |
7 |
735 |
P
|
ISC012 |
Isochromosome Y |
7 |
736 |
|
PRT151 |
Partial Deletion of Chromosome 16 |
7 |
737 |
|
PRT154 |
Partial Deletion of Chromosome 18 |
7 |
738 |
c
|
KRN003 |
Kernicterus Due to Isoimmunization |
7 |
739 |
|
PRT175 |
Partial Deletion of the Long Arm of Chromosome 2 |
7 |
740 |
c
|
PRT182 |
Partial Monosomy of the Long Arm of Chromosome 9 |
7 |
741 |
|
DST087 |
Distal Trisomy 7p |
7 |
742 |
|
ISL034 |
Isolated Megalencephaly |
7 |
743 |
|
BPR001 |
Bipartite Talus |
7 |
744 |
|
CNG107 |
Congenital Mitral Malformation |
6 |
745 |
|
MLF005 |
Malformation Syndrome with Short Stature |
6 |
746 |
|
14Q003 |
14q11.2 Microduplication Syndrome |
6 |
747 |
c
|
PRT190 |
Partial Trisomy of the Long Arm of Chromosome 18 |
6 |
748 |
c
|
MTR079 |
Maternal Uniparental Disomy of Chromosome 13 |
6 |
749 |
|
DST088 |
Distal Trisomy 1p36 |
6 |
750 |
|
ART161 |
Aortic Malformation |
6 |
751 |
|
BNL004 |
Benallegue Lacete Syndrome |
6 |
752 |
c
|
CRB128 |
Cerebrofacial Arteriovenous Metameric Syndrome Type 1 |
6 |
753 |
|
PRT150 |
Partial Deletion of the Long Arm of Chromosome 12 |
6 |
754 |
|
PRT216 |
Partial Trisomy of Chromosome 20 |
6 |
755 |
|
PRT223 |
Partial Duplication of Chromosome 11 |
6 |
756 |
|
PRT242 |
Partial Deletion of the Long Arm of Chromosome 21 |
6 |
757 |
|
DST058 |
Distal Monosomy 12p |
6 |
758 |
|
CNG287 |
Congenital Absence of Both Forearm and Hand |
6 |
759 |
|
CNG288 |
Congenital Absence of Upper Arm and Forearm with Hand Present |
6 |
760 |
|
1P3003 |
1p35.2 Microdeletion Syndrome |
6 |
761 |
|
DST075 |
Distal Trisomy 16q |
6 |
762 |
c
|
ATS003 |
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome |
6 |
763 |
|
DZX005 |
Diazoxide-Resistant Hyperinsulinism |
6 |
764 |
|
UPP009 |
Upper Limb Hypertrophy |
6 |
765 |
|
HMR031 |
Humeral Agenesis/hypoplasia |
6 |
766 |
|
7Q3001 |
7q31 Microdeletion Syndrome |
6 |
767 |
|
OKH001 |
Okihiro Syndrome Due to a Point Mutation |
6 |
768 |
|
PRT222 |
Partial Duplication of Chromosome 8 |
6 |
769 |
c
|
LRY048 |
Laryngotracheoesophageal Cleft Type 0 |
6 |
770 |
c
|
PTR020 |
Paternal Uniparental Disomy of Chromosome 20 |
6 |
771 |
c
|
PTR022 |
Paternal Uniparental Disomy of Chromosome 7 |
6 |
772 |
|
DZX004 |
Diazoxide-Sensitive Diffuse Hyperinsulinism |
5 |
773 |
|
PRT141 |
Partial Deletion of Chromosome 1 |
5 |
774 |
|
PRT158 |
Partial Deletion of the Short Arm of Chromosome 2 |
5 |
775 |
|
PRT168 |
Partial Deletion of the Short Arm of Chromosome 16 |
5 |
776 |
|
PRT172 |
Partial Deletion of the Short Arm of Chromosome 19 |
5 |
777 |
|
PRT176 |
Partial Deletion of the Long Arm of Chromosome 3 |
5 |
778 |
|
PRT192 |
Partial Duplication of the Long Arm of Chromosome 22 |
5 |
779 |
|
PRT098 |
Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome |
5 |
780 |
|
DST083 |
Distal Trisomy 9q |
5 |
781 |
|
CHR512 |
Cheirospondyloenchondromatosis |
5 |
782 |
|
DSC011 |
Discrete Fibromuscular Subaortic Stenosis |
5 |
783 |
|
SYN148 |
Syndromic Aniridia |
5 |
784 |
|
MLF009 |
Malformation of the Cerebellar Vermis |
5 |
785 |
|
PRS138 |
Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium |
5 |
786 |
|
PRT148 |
Partial Deletion of Chromosome 6 |
5 |
787 |
|
PRT155 |
Partial Deletion of Chromosome 17 |
5 |
788 |
|
PRT229 |
Partial Duplication of Chromosome 2 |
5 |
789 |
|
SYN096 |
Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication |
5 |
790 |
|
PHK010 |
Phakomatosis Spilorosea |
5 |
791 |
|
PRT249 |
Partial Autosomal Monosomy |
5 |
792 |
|
DST067 |
Distal Monosomy 14q |
5 |
793 |
|
PRT253 |
Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia |
5 |
794 |
c
|
HYP851 |
Hypotonia-Cystinuria Type 1 Syndrome |
5 |
795 |
|
PRT195 |
Partial Duplication of the Long Arm of Chromosome 8 |
5 |
796 |
|
PRT198 |
Partial Duplication of the Long Arm of Chromosome 14 |
5 |
797 |
|
PRT240 |
Partial Deletion of the Long Arm of Chromosome 19 |
5 |
798 |
c
|
ISL039 |
Isolated Focal Cortical Dysplasia Type Ic |
5 |
799 |
|
2P1003 |
2p13.2 Microdeletion Syndrome |
5 |
800 |
|
PRT109 |
Partially Involuting Congenital Hemangioma |
5 |
801 |
|
MCR280 |
Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome |
5 |
802 |
|
ACR083 |
Acrofacial Dysostosis, Kennedy-Teebi Type |
5 |
803 |
|
DST073 |
Distal Monosomy 7p |
5 |
804 |
|
CNG353 |
Congenital Partial Agenesis of Pericardium |
5 |
805 |
|
CNG537 |
Congenital Anomaly of the Tricuspid Valve Chordae |
5 |
806 |
|
ISL079 |
Isolated Encephalocele |
5 |
807 |
|
NNT001 |
Neonatal Infective Mastitis |
5 |
808 |
|
SYN097 |
Syndromic Urogenital Tract Malformation |
5 |
809 |
c
|
LSS023 |
Lissencephaly with Cerebellar Hypoplasia Type C |
5 |
810 |
c
|
CHR251 |
Chromosome 5, Uniparental Disomy |
4 |
811 |
|
OPN003 |
Open Iniencephaly |
4 |
812 |
|
CLS021 |
Closed Iniencephaly |
4 |
813 |
|
SYN168 |
Syndrome with a Cerebellar Malformation As a Major Feature |
4 |
814 |
|
SYN143 |
Syndromic Telecanthus |
4 |
815 |
|
ATR096 |
Atrioventricular Valve Anomaly |
4 |
816 |
|
LWM001 |
Low Implantation of Placenta |
4 |
817 |
c
|
TSS003 |
Tessier Number 6 Facial Cleft |
4 |
818 |
|
MCR188 |
Macrodactyly of Fingers, Unilateral |
4 |
819 |
|
MCR190 |
Macrodactyly of Toes, Unilateral |
4 |
820 |
|
CDL007 |
Caudal Regression-Sirenomelia Spectrum |
4 |
821 |
|
4Q2002 |
4q25 Proximal Deletion Syndrome |
4 |
822 |
|
MLT175 |
Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability |
4 |
823 |
c
|
CNG593 |
Congenital Mitral Valve Insufficiency and/or Stenosis |
4 |
824 |
|
PRT210 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 |
4 |
825 |
|
PRT220 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 |
4 |
826 |
|
ISL046 |
Isolated Bilateral Hemispheric Cerebellar Hypoplasia |
4 |
827 |
|
ISL051 |
Isolated Partial Cerebellar Vermis Agenesis |
4 |
828 |
|
BCK010 |
Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion |
4 |
829 |
|
CNG269 |
Congenital Primary Megaureter, Refluxing Form |
4 |
830 |
|
CNG270 |
Congenital Primary Megaureter, Obstructed Form |
4 |
831 |
|
46X066 |
46,xy Disorder of Sex Development of Endocrine Origin |
4 |
832 |
|
SPN269 |
Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type |
4 |
833 |
|
CNG569 |
Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature |
4 |
834 |
|
FNG012 |
Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome |
4 |
835 |
|
RDL019 |
Radio-Ulnar Synostosis, Unilateral |
4 |
836 |
|
HMR037 |
Humero-Ulnar Synostosis, Bilateral |
4 |
837 |
|
APR011 |
Aprosencephaly/atelencephaly Spectrum |
4 |
838 |
|
ISL130 |
Isolated Congenital Entropion |
4 |
839 |
|
TRC084 |
Tricuspid Valve Agenesis |
4 |
840 |
|
MLF008 |
Malformation of the Cerebellar Hemispheres |
4 |
841 |
|
OTH025 |
Other Syndrome with Lissencephaly As a Major Feature |
4 |
842 |
c
|
XND001 |
X and Y Chromosomal Anomaly |
4 |
843 |
|
CNG606 |
Congenital Aortic Valve Dysplasia |
4 |
844 |
c
|
CTR008 |
Cataract Congenital Autosomal Dominant |
4 |
845 |
|
HYP178 |
Hyperthermia Induced Defects |
4 |
846 |
c
|
XCH002 |
X Chromosome Number Anomaly |
4 |
847 |
|
PRT233 |
Partial Duplication of Chromosome 6 |
4 |
848 |
|
HMZ005 |
Homozygous 2p21 Microdeletion Syndrome |
4 |
849 |
|
CNG316 |
Congenital Vertical Talus, Bilateral |
4 |
850 |
|
MCR189 |
Macrodactyly of Toes, Bilateral |
4 |
851 |
|
46X078 |
46,xx Disorder of Sex Development Induced by Androgens Excess |
4 |
852 |
|
SYN162 |
Syndromic Esophageal Malformation |
4 |
853 |
c
|
CRN093 |
Craniosynostosis Autosomal Dominant |
3 |
854 |
c
|
SYN028 |
Syngnathia Multiple Anomalies |
3 |
855 |
c
|
INT350 |
Intermediate Isolated Anorectal Malformation |
3 |
856 |
|
SYN102 |
Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature |
3 |
857 |
|
SYN166 |
Syndrome with a Dandy-Walker Malformation As a Major Feature |
3 |
858 |
|
46X064 |
46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors |
3 |
859 |
|
JNT005 |
Joint Formation Defects |
3 |
860 |
|
AML036 |
Amelia of Lower Limb |
3 |
861 |
|
ISL127 |
Isolated Blepharochalasis |
3 |
862 |
|
ISL132 |
Isolated Megalopapilla |
3 |
863 |
|
ANT090 |
Anterior Segment Developmental Abnormality with Extraocular Manifestations |
3 |
864 |
|
BCK016 |
Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication |
3 |
865 |
|
STR076 |
Straddling and/or Overriding Mitral Valve |
3 |
866 |
|
CNG360 |
Congenital Unguarded Mitral Orifice |
3 |
867 |
|
SYN145 |
Syndromic Epicanthus |
3 |
868 |
|
ANT094 |
Anterior Segment Developmental Anomaly Without Extraocular Manifestations |
3 |
869 |
c
|
GLC033 |
Glaucoma, Hereditary Adult Type 1a |
3 |
870 |
c
|
FRG006 |
Fragile X Syndrome Type 3 |
3 |
871 |
c
|
OCL037 |
Oculodentodigital Dysplasia Dominant |
3 |
872 |
c
|
HYD017 |
Hydrocephalus Autosomal Recessive |
3 |
873 |
|
PRL049 |
Paralytic Facial Malformation |
3 |
874 |
P
|
YCH005 |
Y Chromosome Number Anomaly |
3 |
875 |
|
CNG317 |
Congenital Genu Flexum |
3 |
876 |
|
CNG321 |
Congenital Elbow Dislocation, Bilateral |
3 |
877 |
|
CNG322 |
Congenital Elbow Dislocation, Unilateral |
3 |
878 |
c
|
TTL013 |
Total Autosomal Trisomy |
3 |
879 |
|
SXC005 |
Sex-Chromosome Number Anomaly |
3 |
880 |
P
|
CHR690 |
Chromosome Y Structural Anomaly |
3 |
881 |
|
MLF007 |
Malformation Syndrome with Hamartosis |
3 |
882 |
|
NNS065 |
Non-Syndromic Diaphragmatic or Abdominal Wall Malformation |
3 |
883 |
c
|
BMN003 |
Biemond Syndrome Type 1 |
3 |
884 |
|
NNS049 |
Non-Syndromic Uterovaginal Malformation |
3 |
885 |
|
GLP005 |
Glioependymal/ependymal Cyst |
3 |
886 |
|
DYS201 |
Dysostosis with Limb and Face Anomalies As a Major Feature |
3 |
887 |
|
SYN119 |
Syndrome with Limb Duplication, Polydactyly, Syndactyly, and/or Hyperphalangy |
3 |
888 |
|
DYS206 |
Dysostosis with Brachydactyly with Extraskeletal Manifestations |
3 |
889 |
|
NNS056 |
Non-Syndromic Complex Polydactyly |
3 |
890 |
|
CMP099 |
Complete Hemimelia |
3 |
891 |
|
DYS210 |
Dysostosis with Predominant Craniofacial Involvement |
3 |
892 |
|
CLD020 |
Cleidocranial Dysplasia and Isolated Cranial Ossification Defect |
3 |
893 |
|
SYN142 |
Syndrome with Synostosis or Other Joint Formation Defect |
3 |
894 |
|
MSM021 |
Mesomelic and Rhizo-Mesomelic Dysplasia |
3 |
895 |
|
NNS052 |
Non-Syndromic Urogenital Tract Malformation of Male and Female |
2 |
896 |
|
SYN107 |
Syndrome or Malformation Associated with Head and Neck Malformations |
2 |
897 |
|
XCH001 |
X Chromosome Number Anomaly with Male Phenotype |
2 |
898 |
|
XCH003 |
X Chromosome Number Anomaly with Female Phenotype |
2 |
899 |
|
NNS053 |
Non Syndromic Limb Overgrowth |
2 |
900 |
|
CHR693 |
Chromosomal Disease with Overgrowth |
2 |
901 |
|
NNS066 |
Non-Syndromic Visceral Malformation |
2 |
902 |
|
NNS069 |
Non-Syndromic Esophageal Malformation |
2 |
903 |
|
EMB004 |
Embryonal Carcinoma |
56 |
904 |
c
|
WLM013 |
Wilms Tumor 1 |
66 |
905 |
c
|
WLM018 |
Wilms Tumor 5 |
53 |
906 |
P
|
HRD009 |
Hereditary Wilms' Tumor |
28 |
907 |
c
|
FML094 |
Familial Wilms Tumor 2 |
25 |
908 |
c
|
WLM011 |
Wilms Tumor 6 |
25 |
909 |
c
|
WLM005 |
Wilms Tumor 2 |
25 |
910 |
c
|
WLM017 |
Wilms Tumor 4 |
18 |
911 |
c
|
WLM015 |
Wilms Tumor 3 |
17 |
912 |
P
|
FTL033 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
42 |
913 |
c
|
FTL067 |
Fetal Hemoglobin Quantitative Trait Locus 6 |
25 |
914 |
P
|
CNT003 |
Central Nervous System Embryonal Carcinoma |
10 |
915 |
|
DFN191 |
Deafness, Congenital Heart Defects, and Posterior Embryotoxon |
22 |
916 |
c
|
FTL065 |
Fetal Hemoglobin Quantitative Trait Locus 5 |
16 |
917 |
P
|
EPN001 |
Ependymoblastoma |
44 |
918 |
c
|
ADL045 |
Adult Ependymoblastoma |
14 |
919 |
|
TRT001 |
Teratocarcinoma |
42 |
920 |
P
|
END039 |
Endodermal Sinus Tumor |
41 |
921 |
c
|
ADL047 |
Adult Endodermal Sinus Tumor |
7 |
922 |
P
|
LFT003 |
Left Ventricular Noncompaction |
57 |
923 |
|
FTL012 |
Fetal and Neonatal Alloimmune Thrombocytopenia |
44 |
924 |
c
|
LFT021 |
Left Ventricular Noncompaction 1 |
44 |
925 |
c
|
PRS122 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
38 |
926 |
|
EMB002 |
Embryoma |
37 |
927 |
P
|
BTR001 |
Botryoid Rhabdomyosarcoma |
36 |
928 |
c
|
LFT018 |
Left Ventricular Noncompaction 10 |
28 |
929 |
c
|
LFT017 |
Left Ventricular Noncompaction 8 |
27 |
930 |
c
|
LFT020 |
Left Ventricular Noncompaction 7 |
19 |
931 |
c
|
LFT011 |
Left Ventricular Noncompaction 2 |
17 |
932 |
c
|
FTL036 |
Fetal Hemoglobin Quantitative Trait Locus 2 |
16 |
933 |
c
|
PRS137 |
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant |
11 |
934 |
c
|
ADL031 |
Adult Botryoid Rhabdomyosarcoma |
7 |
935 |
c
|
HYD046 |
Hydatidiform Mole, Recurrent, 1 |
59 |
936 |
|
GRM005 |
Germ Cell Cancer |
46 |
937 |
|
EMB007 |
Embryonal Sarcoma |
40 |
938 |
P
|
RCR026 |
Recurrent Hydatidiform Mole |
26 |
939 |
|
PRV001 |
Parovarian Cyst |
22 |
940 |
|
HRD183 |
Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
22 |
941 |
|
CNT115 |
Central Nervous System Embryonal Tumor |
21 |
942 |
|
WLL022 |
Well-Differentiated Fetal Adenocarcinoma of the Lung |
16 |
943 |
|
HYD069 |
Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism |
10 |
944 |
|
CHL030 |
Childhood Botryoid Rhabdomyosarcoma |
8 |
945 |
|
RRG014 |
Rare Genetic Developmental Defect During Embryogenesis |
5 |
946 |
|
EMB017 |
Embryonal Tumor of Neuroepithelial Tissue |
3 |
947 |
|
FTL017 |
Fetal Enterovirus Syndrome |
2 |
948 |
|
NRL016 |
Neural Tube Defects |
81 |
949 |
|
PHN003 |
Phenylketonuria |
76 |
950 |
P
|
OST002 |
Osteoporosis |
76 |
951 |
P
|
OST001 |
Osteopetrosis |
71 |
952 |
c
|
MYT021 |
Myotonic Dystrophy 1 |
68 |
953 |
P
|
RTH006 |
Rothmund-Thomson Syndrome, Type 2 |
67 |
954 |
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
66 |
955 |
c
|
CNG012 |
Congenital Generalized Lipodystrophy |
65 |
956 |
P
|
KBK002 |
Kabuki Syndrome 1 |
65 |
957 |
P
|
ANG001 |
Angelman Syndrome |
65 |
958 |
|
ART001 |
Arterial Tortuosity Syndrome |
65 |
959 |
P
|
CRN038 |
Carney Complex Variant |
64 |
960 |
|
ANG020 |
Angiosarcoma |
64 |
961 |
P
|
TRC072 |
Treacher Collins Syndrome 1 |
62 |
962 |
c
|
INT072 |
Intestinal Pseudo-Obstruction |
62 |
963 |
|
HJD001 |
Hajdu-Cheney Syndrome |
62 |
964 |
P
|
BTH005 |
Bethlem Myopathy 1 |
62 |
965 |
P
|
HYD006 |
Hydrocephalus |
61 |
966 |
c
|
CRN139 |
Cornelia De Lange Syndrome 1 |
61 |
967 |
|
OST024 |
Osteoporosis-Pseudoglioma Syndrome |
60 |
968 |
c
|
SHR072 |
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly |
59 |
969 |
P
|
RBL001 |
Rubella |
58 |
970 |
P
|
LKD017 |
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism |
58 |
971 |
|
RGH009 |
Right Atrial Isomerism |
57 |
972 |
|
CRN005 |
Craniofrontonasal Syndrome |
57 |
973 |
|
HRL004 |
Hurler-Scheie Syndrome |
57 |
974 |
|
DBL002 |
Double Outlet Right Ventricle |
57 |
975 |
c
|
VSC019 |
Vesicoureteral Reflux 1 |
57 |
976 |
|
PLC005 |
Placental Insufficiency |
56 |
977 |
|
ANS023 |
Anus, Imperforate |
56 |
978 |
c
|
PRX059 |
Peroxisome Biogenesis Disorder 1a |
56 |
979 |
P
|
AML002 |
Amelogenesis Imperfecta |
56 |
980 |
P
|
MLT007 |
Multiple Epiphyseal Dysplasia |
56 |
981 |
P
|
PSD015 |
Pseudohypoparathyroidism |
55 |
982 |
|
PYC001 |
Pycnodysostosis |
55 |
983 |
c
|
HYP292 |
Hypophosphatasia, Infantile |
55 |
984 |
c
|
CRN278 |
Craniosynostosis 1 |
55 |
985 |
P
|
ATR001 |
Atrioventricular Septal Defect |
55 |
986 |
|
CMP034 |
Complete Androgen Insensitivity Syndrome |
55 |
987 |
|
DXT001 |
Dextrocardia |
55 |
988 |
P
|
CCH009 |
Coach Syndrome 1 |
54 |
989 |
P
|
CNT116 |
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a |
54 |
990 |
|
TRC109 |
Tracheoesophageal Fistula with or Without Esophageal Atresia |
54 |
991 |
|
OCC006 |
Occipital Horn Syndrome |
54 |
992 |
c
|
NLD009 |
Nail Disorder, Nonsyndromic Congenital, 1 |
54 |
993 |
|
CLB010 |
Coloboma of Macula |
53 |
994 |
c
|
WRD033 |
Waardenburg Syndrome, Type 2e |
53 |
995 |
c
|
CNG216 |
Congenital Hydrocephalus |
53 |
996 |
c
|
SPN294 |
Spinocerebellar Ataxia 1 |
53 |
997 |
c
|
AML044 |
Amelogenesis Imperfecta, Type Ig |
53 |
998 |
c
|
HYP271 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
53 |
999 |
|
NNT012 |
Neonatal Jaundice |
53 |
1000 |
|
LTR009 |
Lateral Meningocele Syndrome |
53 |
1001 |
c
|
PRG040 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 |
53 |
1002 |
P
|
CRN276 |
Corneal Endothelial Dystrophy |
53 |
1003 |
|
OCL039 |
Oculoectodermal Syndrome |
52 |
1004 |
|
MCR165 |
Microphthalmia with Limb Anomalies |
52 |
1005 |
|
NRL002 |
Neurilemmomatosis |
52 |
1006 |
c
|
46X082 |
46,xy Sex Reversal |
52 |
1007 |
|
MLB001 |
Mulibrey Nanism |
52 |
1008 |
P
|
PRS049 |
Persistent Mullerian Duct Syndrome |
52 |
1009 |
c
|
HYP807 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
52 |
1010 |
c
|
HYD064 |
Hydrocephalus, Congenital, 1 |
51 |
1011 |
c
|
HYP293 |
Hypophosphatasia, Adult |
51 |
1012 |
c
|
PNC106 |
Pancreatic Agenesis 1 |
51 |
1013 |
c
|
HYP326 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
51 |
1014 |
|
ACR013 |
Acrodysostosis |
51 |
1015 |
P
|
JVN008 |
Juvenile Glaucoma |
50 |
1016 |
|
LPD016 |
Lipoid Proteinosis of Urbach and Wiethe |
50 |
1017 |
|
WYR002 |
Weyers Acrofacial Dysostosis |
50 |
1018 |
|
ACR043 |
Acromicric Dysplasia |
50 |
1019 |
|
VTR016 |
Vater/vacterl Association |
49 |
1020 |
|
PLM070 |
Pulmonic Stenosis |
49 |
1021 |
|
ACR002 |
Acrocapitofemoral Dysplasia |
49 |
1022 |
|
DND001 |
Dandy-Walker Syndrome |
49 |
1023 |
|
BHR002 |
Bohring-Opitz Syndrome |
48 |
1024 |
c
|
HYP601 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
48 |
1025 |
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
48 |
1026 |
c
|
BRC081 |
Brachydactyly, Type C |
48 |
1027 |
c
|
ACH033 |
Achondrogenesis, Type Ia |
48 |
1028 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
48 |
1029 |
|
47X002 |
47,xyy |
48 |
1030 |
c
|
DSB006 |
Desbuquois Dysplasia 1 |
48 |
1031 |
|
MTC018 |
Metachondromatosis |
48 |
1032 |
P
|
OMP004 |
Omphalocele |
48 |
1033 |
c
|
NNN010 |
Noonan Syndrome 3 |
47 |
1034 |
|
SPN405 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
47 |
1035 |
c
|
SCL045 |
Sclerosteosis 1 |
47 |
1036 |
c
|
NNN028 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 |
47 |
1037 |
|
OST062 |
Osteoarthritis with Mild Chondrodysplasia |
47 |
1038 |
|
DYG001 |
Dyggve-Melchior-Clausen Disease |
47 |
1039 |
|
CKT002 |
Cakut |
47 |
1040 |
|
BNT003 |
Bent Bone Dysplasia Syndrome |
46 |
1041 |
|
ECT007 |
Ectodermal Dysplasia/skin Fragility Syndrome |
46 |
1042 |
|
SHP005 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
46 |
1043 |
c
|
HYP543 |
Hypoplastic Left Heart Syndrome 1 |
46 |
1044 |
P
|
CRN231 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
46 |
1045 |
|
LRN006 |
Laurin-Sandrow Syndrome |
46 |
1046 |
|
MDD010 |
Middle Ear Disease |
46 |
1047 |
c
|
HLP016 |
Holoprosencephaly 11 |
46 |
1048 |
c
|
BRT050 |
Bartter Syndrome, Type 2, Antenatal |
46 |
1049 |
c
|
XLN229 |
X-Linked Chondrodysplasia Punctata 2 |
46 |
1050 |
|
CHR222 |
Chromosome 1p36 Deletion Syndrome |
45 |
1051 |
c
|
LPD035 |
Lipodystrophy, Congenital Generalized, Type 4 |
45 |
1052 |
c
|
SPN310 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
45 |
1053 |
c
|
SHR066 |
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly |
45 |
1054 |
c
|
ZLL011 |
Zellweger Spectrum Disorder |
45 |
1055 |
c
|
XFP001 |
Xfe Progeroid Syndrome |
45 |
1056 |
|
ABR009 |
Abruzzo-Erickson Syndrome |
45 |
1057 |
|
LNZ003 |
Lenz-Majewski Hyperostotic Dwarfism |
44 |
1058 |
c
|
JBR024 |
Joubert Syndrome 14 |
44 |
1059 |
|
ACR011 |
Acromesomelic Dysplasia, Maroteaux Type |
44 |
1060 |
c
|
DFN136 |
Deafness, Autosomal Dominant 9 |
44 |
1061 |
|
MCR096 |
Macrocephaly/autism Syndrome |
44 |
1062 |
c
|
DVL034 |
Developmental and Epileptic Encephalopathy 3 |
44 |
1063 |
|
DYS018 |
Dysostosis |
44 |
1064 |
|
SCH030 |
Schneckenbecken Dysplasia |
44 |
1065 |
c
|
EPP013 |
Epiphyseal Dysplasia, Multiple, 5 |
44 |
1066 |
P
|
EPT020 |
Epithelioid Hemangioendothelioma |
44 |
1067 |
|
BLD170 |
Bladder Exstrophy and Epispadias Complex |
43 |
1068 |
c
|
HYP349 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
43 |
1069 |
c
|
PRS128 |
Persistent Mullerian Duct Syndrome, Types I and Ii |
43 |
1070 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
43 |
1071 |
|
SPN302 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
43 |
1072 |
|
ARC008 |
Auriculo-Condylar Syndrome |
43 |
1073 |
|
BRT046 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
43 |
1074 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
43 |
1075 |
c
|
BRT052 |
Bartter Syndrome, Type 1, Antenatal |
43 |
1076 |
P
|
CRN013 |
Craniodiaphyseal Dysplasia |
43 |
1077 |
|
CRB142 |
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant |
43 |
1078 |
|
STL007 |
Steel Syndrome |
42 |
1079 |
c
|
WRB004 |
Warburg Micro Syndrome 3 |
42 |
1080 |
|
CHR667 |
Chromosome 3pter-P25 Deletion Syndrome |
42 |
1081 |
|
CLF056 |
Cleft Lip with or Without Cleft Palate |
42 |
1082 |
c
|
RHZ004 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
42 |
1083 |
c
|
WLL036 |
Weill-Marchesani Syndrome 1 |
42 |
1084 |
c
|
OST118 |
Osteogenesis Imperfecta, Type Viii |
42 |
1085 |
P
|
CRN074 |
Coronary Artery Aneurysm |
42 |
1086 |
|
NVL003 |
Nivelon-Nivelon-Mabille Syndrome |
42 |
1087 |
c
|
OST106 |
Osteopetrosis, Autosomal Recessive 8 |
41 |
1088 |
|
HMH004 |
Hemihyperplasia, Isolated |
41 |
1089 |
|
GNT031 |
Genitopatellar Syndrome |
41 |
1090 |
|
ELS006 |
Elsahy-Waters Syndrome |
41 |
1091 |
P
|
CHR342 |
Chiari Malformation |
41 |
1092 |
c
|
EPP012 |
Epiphyseal Dysplasia, Multiple, 2 |
41 |
1093 |
P
|
WRB001 |
Warburg Micro Syndrome |
41 |
1094 |
c
|
EPD071 |
Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
41 |
1095 |
|
END059 |
Endocrine-Cerebroosteodysplasia |
41 |
1096 |
P
|
OTF004 |
Otofaciocervical Syndrome 1 |
41 |
1097 |
|
TTH004 |
Tethered Spinal Cord Syndrome |
41 |
1098 |
c
|
BRC052 |
Brachydactyly, Type B2 |
40 |
1099 |
c
|
46X055 |
46,xy Sex Reversal 3 |
40 |
1100 |
P
|
HRD086 |
Hereditary Hypophosphatemic Rickets |
40 |
1101 |
|
49X006 |
49, Xxxxy Syndrome |
40 |
1102 |
c
|
SCL042 |
Sclerosteosis 2 |
40 |
1103 |
|
LCR013 |
Lacrimal Duct Defect |
40 |
1104 |
P
|
MCR364 |
Macrodactyly |
40 |
1105 |
|
CHR518 |
Chromosome 9p Deletion Syndrome |
40 |
1106 |
c
|
HNF003 |
Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
40 |
1107 |
|
MJD001 |
Majeed Syndrome |
40 |
1108 |
|
BLR027 |
Blue Rubber Bleb Nevus |
40 |
1109 |
c
|
MCR312 |
Microphthalmia, Syndromic 10 |
40 |
1110 |
P
|
ECT067 |
Ectodermal Dysplasia 4, Hair/nail Type |
39 |
1111 |
|
SPN391 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
39 |
1112 |
c
|
ANT085 |
Anterior Segment Dysgenesis 5 |
39 |
1113 |
|
EKN001 |
Eiken Syndrome |
39 |
1114 |
|
OLG021 |
Oligomeganephronia |
39 |
1115 |
|
CRP033 |
Corpus Callosum, Agenesis of, with Abnormal Genitalia |
39 |
1116 |
|
VNT030 |
Ventriculomegaly with Cystic Kidney Disease |
39 |
1117 |
|
HMM004 |
Hamamy Syndrome |
39 |
1118 |
c
|
MCR122 |
Microphthalmia, Isolated 5 |
39 |
1119 |
c
|
MSC098 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
39 |
1120 |
|
CHR583 |
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb |
39 |
1121 |
P
|
MLT140 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
38 |
1122 |
|
VLP002 |
Valproate Embryopathy |
38 |
1123 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
38 |
1124 |
|
SPN360 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
38 |
1125 |
c
|
PGT007 |
Paget Disease of Bone 3 |
38 |
1126 |
P
|
MTP001 |
Metaphyseal Dysplasia |
38 |
1127 |
c
|
EPP015 |
Epiphyseal Dysplasia, Multiple, 3 |
38 |
1128 |
|
CLF028 |
Cleft Soft Palate |
38 |
1129 |
c
|
DYS143 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
38 |
1130 |
|
TRG019 |
Trigonocephaly with Short Stature and Developmental Delay |
38 |
1131 |
c
|
LSS010 |
Lissencephaly 4 |
38 |
1132 |
|
HLZ001 |
Holzgreve Syndrome |
38 |
1133 |
c
|
LSS009 |
Lissencephaly 3 |
38 |
1134 |
c
|
NNN009 |
Noonan Syndrome 2 |
38 |
1135 |
|
CRD017 |
Cardiac Valvular Dysplasia, X-Linked |
38 |
1136 |
|
ISL062 |
Isolated Plagiocephaly |
37 |
1137 |
c
|
DNT021 |
Dent Disease 2 |
37 |
1138 |
c
|
BRC080 |
Brachydactyly, Type A1, B |
37 |
1139 |
c
|
PLM149 |
Palmoplantar Keratoderma and Congenital Alopecia 2 |
37 |
1140 |
c
|
DNR003 |
Duane Retraction Syndrome 1 |
37 |
1141 |
P
|
ACR106 |
Acrocephalopolysyndactyly Type Iii |
37 |
1142 |
|
CHR387 |
Chromosome Xp21 Deletion Syndrome |
37 |
1143 |
|
CHR590 |
Chromosome 15q11-Q13 Duplication Syndrome |
36 |
1144 |
c
|
ORF038 |
Orofaciodigital Syndrome Iii |
36 |
1145 |
P
|
OVR075 |
Ovarian Dysgenesis 1 |
36 |
1146 |
c
|
SCN006 |
Secondary Syphilis |
36 |
1147 |
P
|
ANT061 |
Antenatal Bartter Syndrome |
36 |
1148 |
c
|
SPL033 |
Split-Hand/foot Malformation 6 |
36 |
1149 |
|
BLR028 |
Biliary Atresia, Extrahepatic |
36 |
1150 |
|
ISL087 |
Isolated Oxycephaly |
36 |
1151 |
c
|
NRP029 |
Neuropathy, Hereditary Sensory, Type Iic |
36 |
1152 |
c
|
DVL050 |
Developmental and Epileptic Encephalopathy 24 |
36 |
1153 |
|
NNT004 |
Neonatal Respiratory Failure |
36 |
1154 |
P
|
MSC002 |
Muscular Dystrophy-Dystroglycanopathy |
35 |
1155 |
|
GST052 |
Gestational Choriocarcinoma |
35 |
1156 |
c
|
DFN114 |
Deafness, Autosomal Recessive 67 |
35 |
1157 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
35 |
1158 |
c
|
DFN182 |
Deafness, Autosomal Recessive 71 |
35 |
1159 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
35 |
1160 |
P
|
BRC003 |
Brachyolmia |
35 |
1161 |
|
MHR002 |
Mohr Syndrome |
35 |
1162 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
35 |
1163 |
c
|
DFN269 |
Deafness, Autosomal Recessive 98 |
35 |
1164 |
c
|
CRN146 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
35 |
1165 |
|
RFM001 |
Roifman Syndrome |
35 |
1166 |
c
|
EPP009 |
Epiphyseal Dysplasia, Multiple, 6 |
35 |
1167 |
c
|
MNS014 |
Monosomy 22 |
35 |
1168 |
|
DYS048 |
Dysplasia Epiphysealis Hemimelica |
35 |
1169 |
|
ACR016 |
Acromesomelic Dysplasia |
35 |
1170 |
c
|
CTR145 |
Cataract 44 |
35 |
1171 |
|
CHR589 |
Chromosome 17p13.3, Centromeric, Duplication Syndrome |
35 |
1172 |
|
CHR225 |
Chromosome 1q21.1 Duplication Syndrome |
34 |
1173 |
c
|
PGT009 |
Paget Disease of Bone 2, Early-Onset |
34 |
1174 |
|
SPN289 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
34 |
1175 |
c
|
WLL037 |
Weill-Marchesani Syndrome 2 |
34 |
1176 |
c
|
CTR183 |
Cataract 38 |
34 |
1177 |
|
GBR007 |
Gabriele-De Vries Syndrome |
34 |
1178 |
P
|
ATL001 |
Atelosteogenesis |
34 |
1179 |
|
MTP028 |
Metaphyseal Dysplasia, Spahr Type |
34 |
1180 |
P
|
CHR084 |
Chromosomal Disease |
34 |
1181 |
|
PST063 |
Postsynaptic Congenital Myasthenic Syndromes |
34 |
1182 |
P
|
ATS382 |
Autosomal Dominant Tubulointerstitial Kidney Disease |
34 |
1183 |
c
|
46X057 |
46,xy Sex Reversal 8 |
34 |
1184 |
c
|
SMT018 |
Smith-Mccort Dysplasia 2 |
34 |
1185 |
|
WTT002 |
Witteveen-Kolk Syndrome |
34 |
1186 |
|
CNG429 |
Congenital Myasthenic Syndromes with Glycosylation Defect |
33 |
1187 |
c
|
BNM018 |
Bone Mineral Density Quantitative Trait Locus 3 |
33 |
1188 |
|
DFN358 |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia |
33 |
1189 |
c
|
TBL032 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
33 |
1190 |
|
MYP038 |
Myopathy, Congenital, Compton-North |
33 |
1191 |
c
|
DFN095 |
Deafness, Autosomal Recessive 25 |
33 |
1192 |
c
|
ADM007 |
Adams-Oliver Syndrome 2 |
33 |
1193 |
c
|
LTC001 |
Late Congenital Syphilis |
33 |
1194 |
|
MSC020 |
Mosaic Trisomy 8 |
32 |
1195 |
|
CLF049 |
Cleft Lip and Alveolus |
32 |
1196 |
P
|
PLM182 |
Pulmonary Hypoplasia, Primary |
32 |
1197 |
P
|
SCL047 |
Sclerocornea |
32 |
1198 |
c
|
CRT074 |
Cortical Dysplasia, Complex, with Other Brain Malformations 6 |
32 |
1199 |
c
|
ICH045 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
32 |
1200 |
|
CHR568 |
Chromosome 6q24-Q25 Deletion Syndrome |
32 |
1201 |
c
|
SLV028 |
Silver-Russell Syndrome 3 |
32 |
1202 |
|
EPD072 |
Epidermolysis Bullosa Dystrophica, Pretibial |
32 |
1203 |
c
|
CRT067 |
Cortical Dysplasia, Complex, with Other Brain Malformations 2 |
32 |
1204 |
|
CYS021 |
Cystic Adenomatoid Malformation of Lung |
32 |
1205 |
c
|
GLC083 |
Glaucoma 3, Primary Infantile, B |
32 |
1206 |
c
|
FRS015 |
Fraser Syndrome 3 |
32 |
1207 |
|
AMN014 |
Aminopterin Syndrome Sine Aminopterin |
32 |
1208 |
|
MTC100 |
Metacarpal 4-5 Fusion |
31 |
1209 |
c
|
MCR270 |
Microcephaly 14, Primary, Autosomal Recessive |
31 |
1210 |
|
EPP022 |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness |
31 |
1211 |
|
ORF053 |
Orofacial Clefting Syndrome |
31 |
1212 |
|
DST008 |
Diastematomyelia |
31 |
1213 |
|
CYS041 |
Cystic Angiomatosis of Bone, Diffuse |
31 |
1214 |
|
CDL005 |
Caudal Duplication Anomaly |
31 |
1215 |
c
|
OST169 |
Osteogenesis Imperfecta, Type Xviii |
31 |
1216 |
|
ART165 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
31 |
1217 |
|
FMR018 |
Femoral-Facial Syndrome |
31 |
1218 |
|
GLB024 |
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor |
31 |
1219 |
c
|
RNL125 |
Renal Tubular Acidosis, Distal, 1 |
31 |
1220 |
|
NRD028 |
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies |
31 |
1221 |
|
ERL027 |
Early-Onset Non-Syndromic Cataract |
31 |
1222 |
|
MCR354 |
Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures |
31 |
1223 |
|
STP011 |
Stapes Ankylosis with Broad Thumbs and Toes |
31 |
1224 |
c
|
ORF036 |
Orofaciodigital Syndrome Xiv |
30 |
1225 |
c
|
OST138 |
Osteogenesis Imperfecta, Type Xvii |
30 |
1226 |
c
|
USH043 |
Usher Syndrome, Type Ih |
30 |
1227 |
P
|
HYP714 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 |
30 |
1228 |
|
SPN352 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
30 |
1229 |
c
|
ORF048 |
Orofacial Cleft 1 |
30 |
1230 |
c
|
CLR134 |
Ciliary Dyskinesia, Primary, 3 |
30 |
1231 |
c
|
HYP369 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
30 |
1232 |
|
ATY016 |
Atypical Werner Syndrome |
29 |
1233 |
|
CHR524 |
Chromosome 16p13.3 Duplication Syndrome |
29 |
1234 |
c
|
FNC062 |
Fanconi Anemia, Complementation Group S |
29 |
1235 |
|
ACR017 |
Acrofacial Dysostosis |
29 |
1236 |
P
|
MTR051 |
Maternal Uniparental Disomy of Chromosome 1 |
29 |
1237 |
|
NDL022 |
Nodular Neuronal Heterotopia |
29 |
1238 |
c
|
PRX046 |
Peroxisome Biogenesis Disorder 7a |
29 |
1239 |
c
|
HYP698 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 |
29 |
1240 |
|
HYP364 |
Hyperostosis Frontalis Interna |
29 |
1241 |
c
|
CPL015 |
Capillary Malformation-Arteriovenous Malformation 2 |
29 |
1242 |
|
ISL061 |
Isolated Brachycephaly |
29 |
1243 |
P
|
CHR200 |
Chromosome 16 Trisomy |
29 |
1244 |
c
|
CWD008 |
Cowden Syndrome 6 |
29 |
1245 |
|
CHR229 |
Chromosome 20p Duplication |
29 |
1246 |
c
|
DFN276 |
Deafness, X-Linked 6 |
29 |
1247 |
|
PLT007 |
Palatopharyngeal Incompetence |
29 |
1248 |
c
|
SYM022 |
Symphalangism, Proximal, 1a |
29 |
1249 |
P
|
ERL043 |
Early-Onset Nuclear Cataract |
29 |
1250 |
|
12Q002 |
12q14 Microdeletion Syndrome |
29 |
1251 |
c
|
RDL040 |
Radioulnar Synostosis, Nonsyndromic |
29 |
1252 |
|
PRX085 |
Preaxial Hallucal Polydactyly |
28 |
1253 |
P
|
PLM069 |
Pulmonary Venous Return Anomaly |
28 |
1254 |
|
TRC110 |
Tracheobronchial Stenosis, Congenital |
28 |
1255 |
c
|
DFN374 |
Deafness, Autosomal Recessive 100 |
28 |
1256 |
|
CHR399 |
Chromosome 4q21 Deletion Syndrome |
28 |
1257 |
c
|
HYP788 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
28 |
1258 |
|
FCL047 |
Facial Clefting, Oblique, 1 |
28 |
1259 |
c
|
DNC007 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
28 |
1260 |
c
|
RNG022 |
Ring Chromosome 6 |
28 |
1261 |
|
CHR379 |
Chromosome 15q26-Qter Deletion Syndrome |
28 |
1262 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
28 |
1263 |
|
CLF048 |
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features |
28 |
1264 |
|
GRW039 |
Growth Retardation, Developmental Delay, and Facial Dysmorphism |
28 |
1265 |
|
FBL014 |
Fibular Hemimelia |
28 |
1266 |
|
CNG506 |
Congenital Amyoplasia |
27 |
1267 |
|
CHR270 |
Chromosome 9p Duplication |
27 |
1268 |
|
CHR265 |
Chromosome 8p Duplication |
27 |
1269 |
|
FRN022 |
Frontofacionasal Dysplasia |
27 |
1270 |
|
MSM004 |
Mesomelia-Synostoses Syndrome |
27 |
1271 |
|
FCL078 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs |
27 |
1272 |
c
|
PRX052 |
Peroxisome Biogenesis Disorder 13a |
27 |
1273 |
c
|
DFN146 |
Deafness, X-Linked 3 |
27 |
1274 |
|
16Q001 |
16q24.3 Microdeletion Syndrome |
27 |
1275 |
|
NNN033 |
Noonan Syndrome and Noonan-Related Syndrome |
27 |
1276 |
|
THR101 |
Thrombocytopenia, Paris-Trousseau Type |
27 |
1277 |
|
WLL012 |
Williams-Beuren Region Duplication Syndrome |
27 |
1278 |
c
|
ECT068 |
Ectodermal Dysplasia 6, Hair/nail Type |
27 |
1279 |
c
|
BNM015 |
Bone Mineral Density Quantitative Trait Locus 18 |
27 |
1280 |
|
NBL001 |
Nablus Mask-Like Facial Syndrome |
27 |
1281 |
|
CHR190 |
Chromosome 12p Duplication |
27 |
1282 |
|
MCR067 |
Microcoria, Congenital |
27 |
1283 |
P
|
PRG139 |
Progeroid Syndrome |
27 |
1284 |
|
YNH001 |
Yuan-Harel-Lupski Syndrome |
27 |
1285 |
|
SHR112 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies |
26 |
1286 |
|
HYP180 |
Hypertrichosis Lanuginosa Congenita |
26 |
1287 |
|
ISL084 |
Isolated Trigonocephaly |
26 |
1288 |
P
|
RNL123 |
Renal Agenesis, Bilateral |
26 |
1289 |
|
BLP041 |
Blepharochalasis and Double Lip |
26 |
1290 |
|
CRL001 |
Cerulean Cataract |
26 |
1291 |
|
UNL005 |
Unilateral Polymicrogyria |
26 |
1292 |
|
CHR248 |
Chromosome 4p Duplication |
26 |
1293 |
c
|
EHL089 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
26 |
1294 |
|
SPS207 |
Spastic Paraplegia and Psychomotor Retardation with or Without Seizures |
26 |
1295 |
|
UNV002 |
Univentricular Heart |
26 |
1296 |
|
TTR027 |
Tetrasomy 15q26 |
26 |
1297 |
c
|
CLC056 |
Cole-Carpenter Syndrome 1 |
26 |
1298 |
|
HRY005 |
Hairy Elbows |
26 |
1299 |
c
|
RNG016 |
Ring Chromosome 20 |
26 |
1300 |
c
|
CHR227 |
Chromosome 20 Trisomy |
26 |
1301 |
c
|
MSC118 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 |
26 |
1302 |
|
SNT004 |
Sinoatrial Node Dysfunction and Deafness |
26 |
1303 |
|
OCC011 |
Occipital Encephalocele |
26 |
1304 |
|
NNG001 |
Non-Gestational Choriocarcinoma |
26 |
1305 |
c
|
HYP557 |
Hypogonadotropic Hypogonadism 19 with or Without Anosmia |
26 |
1306 |
c
|
RBN023 |
Robinow Syndrome, Autosomal Recessive 2 |
26 |
1307 |
c
|
CWD004 |
Cowden Syndrome 5 |
26 |
1308 |
|
PNL023 |
Penile Agenesis |
26 |
1309 |
|
CHR266 |
Chromosome 8p23.1 Deletion |
26 |
1310 |
|
CRT028 |
Cor Triatriatum |
25 |
1311 |
c
|
DYR001 |
Dyrk1a-Related Intellectual Disability Syndrome |
25 |
1312 |
c
|
CHR565 |
Chromosomal Deletion Syndrome |
25 |
1313 |
|
ART030 |
Aortic Arch Interruption |
25 |
1314 |
c
|
SHR101 |
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly |
25 |
1315 |
|
PRT043 |
Parietal Foramina with Cleidocranial Dysplasia |
25 |
1316 |
c
|
PRR022 |
Perrault Syndrome 2 |
25 |
1317 |
|
OST153 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
25 |
1318 |
|
HGH023 |
High Bone Mass Osteogenesis Imperfecta |
25 |
1319 |
|
CLN022 |
Colonic Atresia |
25 |
1320 |
c
|
HYP520 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
25 |
1321 |
|
RDL039 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
25 |
1322 |
|
HRD037 |
Hardikar Syndrome |
25 |
1323 |
|
CRN272 |
Craniometadiaphyseal Dysplasia |
25 |
1324 |
c
|
MRG012 |
Meier-Gorlin Syndrome 5 |
25 |
1325 |
c
|
KLF002 |
Kleefstra Syndrome Due to a Point Mutation |
25 |
1326 |
|
URC005 |
Urachal Cyst |
25 |
1327 |
|
PNS015 |
Penoscrotal Transposition |
25 |
1328 |
|
KPS005 |
Kaposiform Lymphangiomatosis |
25 |
1329 |
c
|
FCL046 |
Focal Facial Dermal Dysplasia 4 |
25 |
1330 |
c
|
DFN030 |
Deafness, Autosomal Recessive 55 |
25 |
1331 |
c
|
CWD009 |
Cowden Syndrome 7 |
24 |
1332 |
c
|
PRX056 |
Peroxisome Biogenesis Disorder 11b |
24 |
1333 |
|
ART164 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect |
24 |
1334 |
c
|
CRT068 |
Cortical Dysplasia, Complex, with Other Brain Malformations 3 |
24 |
1335 |
c
|
ORF023 |
Orofacial Cleft 4 |
24 |
1336 |
|
HLP019 |
Holoprosencephaly, Semilobar, with Craniosynostosis |
24 |
1337 |
|
RFM002 |
Roifman-Chitayat Syndrome |
24 |
1338 |
|
NNG002 |
Non-Gestational Ovarian Choriocarcinoma |
24 |
1339 |
P
|
VTM003 |
Vitamin Metabolic Disorder |
24 |
1340 |
|
DPL009 |
Duplication of the Pituitary Gland |
24 |
1341 |
|
DGR006 |
Digeorge Syndrome/velocardiofacial Syndrome Complex 2 |
24 |
1342 |
c
|
ORF028 |
Orofacial Cleft 10 |
24 |
1343 |
c
|
CFF013 |
Coffin-Siris Syndrome 8 |
24 |
1344 |
|
THV001 |
Thauvin-Robinet-Faivre Syndrome |
24 |
1345 |
c
|
CTR157 |
Cataract 28 |
24 |
1346 |
|
HFN001 |
Hao-Fountain Syndrome |
24 |
1347 |
|
ATR019 |
Atrial Septal Defect Sinus Venosus |
24 |
1348 |
|
SCH055 |
Schilbach-Rott Syndrome |
24 |
1349 |
|
PLY116 |
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis |
24 |
1350 |
|
VRV001 |
Ververi-Brady Syndrome |
24 |
1351 |
|
CGN001 |
Cogan-Reese Syndrome |
24 |
1352 |
|
ACR101 |
Acrocraniofacial Dysostosis |
24 |
1353 |
|
BCR002 |
Bicornuate Uterus |
24 |
1354 |
|
CHR457 |
Chromosome 17p13.1 Deletion Syndrome |
24 |
1355 |
|
FTL073 |
Fetal Anticonvulsant Syndrome |
23 |
1356 |
c
|
MCR331 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
23 |
1357 |
|
ACR039 |
Acromegaloid Hypertrichosis Syndrome |
23 |
1358 |
P
|
PHC014 |
Phocomelia |
23 |
1359 |
|
PRT091 |
Partial Cryptophthalmia |
23 |
1360 |
|
NVR001 |
Nievergelt Syndrome |
23 |
1361 |
c
|
THR096 |
Three M Syndrome 3 |
23 |
1362 |
|
CMP097 |
Complex Chromosomal Rearrangement |
23 |
1363 |
|
FCC002 |
Faciocardiorenal Syndrome |
23 |
1364 |
|
SPN445 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
23 |
1365 |
|
ACL002 |
Acalvaria |
23 |
1366 |
|
PRG122 |
Prognathism, Mandibular |
23 |
1367 |
c
|
DMN028 |
Diamond-Blackfan Anemia 12 |
23 |
1368 |
|
HRT018 |
Heart-Hand Syndrome, Slovenian Type |
23 |
1369 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
1370 |
c
|
CNT117 |
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b |
23 |
1371 |
|
PRT131 |
Partial Trisomy Distal 4q |
23 |
1372 |
|
INT312 |
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies |
23 |
1373 |
|
BLP009 |
Blepharonasofacial Malformation Syndrome |
23 |
1374 |
|
OST117 |
Osteomesopyknosis |
23 |
1375 |
|
DFN313 |
Deafness-Hypogonadism Syndrome |
23 |
1376 |
|
NRF010 |
Neurofaciodigitorenal Syndrome |
23 |
1377 |
|
FCL067 |
Focal Facial Dermal Dysplasia 1, Brauer Type |
23 |
1378 |
c
|
LKD022 |
Leukodystrophy, Hypomyelinating, 13 |
22 |
1379 |
|
PRP090 |
Peripheral Dysostosis |
22 |
1380 |
c
|
OMP009 |
Omphalocele, Autosomal |
22 |
1381 |
|
TBL030 |
Tibial Aplasia-Ectrodactyly Syndrome |
22 |
1382 |
c
|
NLD007 |
Nail Disorder, Nonsyndromic Congenital, 7 |
22 |
1383 |
c
|
LYM147 |
Lymphatic Malformation 3 |
22 |
1384 |
c
|
PSD121 |
Pseudo-Torch Syndrome 3 |
22 |
1385 |
|
SPN189 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
22 |
1386 |
|
CHR610 |
Chromosome 10q22.3-Q23.2 Deletion Syndrome |
22 |
1387 |
c
|
SYN088 |
Synpolydactyly 2 |
22 |
1388 |
|
CNG357 |
Congenital Symblepharon |
22 |
1389 |
|
TTR019 |
Tetrasomy 5p |
22 |
1390 |
|
2Q3005 |
2q31.1 Microdeletion Syndrome |
22 |
1391 |
c
|
ATR064 |
Atrioventricular Septal Defect 3 |
22 |
1392 |
|
BRN123 |
Branchial Arch Syndrome, X-Linked |
22 |
1393 |
c
|
HLP022 |
Holoprosencephaly 8 |
22 |
1394 |
c
|
CTR169 |
Cataract 29 |
22 |
1395 |
|
SPL057 |
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects |
22 |
1396 |
c
|
HYP517 |
Hypoplastic Left Heart Syndrome 2 |
22 |
1397 |
c
|
BRT049 |
Bartter Syndrome, Type 5, Antenatal, Transient |
22 |
1398 |
|
TTR021 |
Tetrasomy 21 |
22 |
1399 |
c
|
ANX011 |
Anauxetic Dysplasia 3 |
22 |
1400 |
|
CLB011 |
Coloboma of Macula with Type B Brachydactyly |
22 |
1401 |
|
CHR241 |
Chromosome 2q24 Microdeletion Syndrome |
22 |
1402 |
c
|
ATS409 |
Autosomal Recessive Nonsyndromic Deafness 32 |
22 |
1403 |
|
6QT002 |
6q Terminal Deletion Syndrome |
22 |
1404 |
|
8PN001 |
8p Inverted Duplication/deletion Syndrome |
22 |
1405 |
c
|
MCR244 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 |
21 |
1406 |
c
|
PTN013 |
Patent Ductus Arteriosus 2 |
21 |
1407 |
|
CRB211 |
Cerebral Cortical Dysplasia |
21 |
1408 |
P
|
ART034 |
Aortopulmonary Window |
21 |
1409 |
|
CHR483 |
Chromosome 3q13.31 Deletion Syndrome |
21 |
1410 |
c
|
JVN025 |
Juvenile Primary Osteoporosis |
21 |
1411 |
|
PCM001 |
Pacman Dysplasia |
21 |
1412 |
|
NTH002 |
Nathalie Syndrome |
21 |
1413 |
|
MCR308 |
Microcephalic Primordial Dwarfism, Toriello Type |
21 |
1414 |
|
JNT001 |
Joint Laxity, Familial |
21 |
1415 |
|
ERL041 |
Early-Onset Zonular Cataract |
21 |
1416 |
c
|
AML059 |
Amelogenesis Imperfecta, Type Ij |
21 |
1417 |
c
|
CRN216 |
Craniosynostosis 5 |
21 |
1418 |
|
FTL018 |
Fetal Indomethacin Syndrome |
21 |
1419 |
|
SPS188 |
Spastic Paraplegia-Paget Disease of Bone Syndrome |
21 |
1420 |
P
|
DNC006 |
Diencephalic-Mesencephalic Junction Dysplasia |
20 |
1421 |
|
PHK008 |
Phakomatosis Cesioflammea |
20 |
1422 |
|
THY106 |
Thyroglossal Duct Cyst, Familial |
20 |
1423 |
c
|
JBR038 |
Joubert Syndrome 27 |
20 |
1424 |
c
|
DFN367 |
Deafness, Autosomal Recessive 110 |
20 |
1425 |
|
DRM042 |
Dermatoosteolysis, Kirghizian Type |
20 |
1426 |
c
|
CWD005 |
Cowden Syndrome 4 |
20 |
1427 |
|
ACR107 |
Acrofacial Dysostosis, Palagonia Type |
20 |
1428 |
c
|
ORT012 |
Orthostatic Hypotension 2 |
20 |
1429 |
|
FCL066 |
Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type |
20 |
1430 |
|
CLR127 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
20 |
1431 |
|
CRT061 |
Cor Triatriatum Dexter |
20 |
1432 |
P
|
BFD001 |
Bifid Nose |
20 |
1433 |
|
UNC015 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly |
20 |
1434 |
c
|
MYS080 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
20 |
1435 |
c
|
ORF039 |
Orofaciodigital Syndrome Vii |
20 |
1436 |
|
CHN040 |
Choanal Atresia and Lymphedema |
20 |
1437 |
c
|
LKD029 |
Leukodystrophy, Hypomyelinating, 16 |
20 |
1438 |
c
|
GLC089 |
Glaucoma 3, Primary Congenital, E |
20 |
1439 |
P
|
RBN007 |
Rubinstein Taybi Like Syndrome |
20 |
1440 |
|
LYM123 |
Lymphedema-Hypoparathyroidism Syndrome |
20 |
1441 |
|
MND027 |
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia |
20 |
1442 |
|
IST006 |
Isotretinoin Syndrome |
20 |
1443 |
|
DST044 |
Distal Trisomy 14q |
20 |
1444 |
|
DST059 |
Distal Trisomy 17q |
20 |
1445 |
|
19P001 |
19p13.12 Microdeletion Syndrome |
19 |
1446 |
c
|
RNG012 |
Ring Chromosome 17 |
19 |
1447 |
|
CHR612 |
Chromosome 15q14 Deletion Syndrome |
19 |
1448 |
c
|
ORF050 |
Orofacial Cleft 2 |
19 |
1449 |
|
CNT104 |
Contractures, Congenital, Torticollis, and Malignant Hyperthermia |
19 |
1450 |
c
|
BRN138 |
Branchiootorenal Spectrum Disorder |
19 |
1451 |
|
ULN005 |
Ulna and Fibula, Hypoplasia of |
19 |
1452 |
|
MZB001 |
Mazabraud Syndrome |
19 |
1453 |
|
QDR002 |
Quadricuspid Aortic Valve |
19 |
1454 |
c
|
JBR048 |
Joubert Syndrome 36 |
19 |
1455 |
|
TRC114 |
Trichodental Dysplasia |
19 |
1456 |
c
|
ANG059 |
Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 |
19 |
1457 |
c
|
BNM030 |
Bone Mineral Density Quantitative Trait Locus 16 |
19 |
1458 |
|
PSD103 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies |
19 |
1459 |
|
HYD021 |
Hydrocephalus Obesity Hypogonadism |
19 |
1460 |
|
UNL014 |
Unilateral Multicystic Dysplastic Kidney |
19 |
1461 |
|
HLP020 |
Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence |
19 |
1462 |
c
|
DFN333 |
Deafness, Autosomal Dominant 73 |
19 |
1463 |
|
ISL154 |
Isolated Exencephaly |
19 |
1464 |
c
|
MCR372 |
Microcephaly 25, Primary, Autosomal Recessive |
19 |
1465 |
c
|
PRG093 |
Pregnancy Loss, Recurrent 3 |
19 |
1466 |
|
HMF007 |
Hemifacial Hyperplasia with Strabismus |
19 |
1467 |
c
|
ECT114 |
Ectodermal Dysplasia 10b |
18 |
1468 |
|
BLT023 |
Bilateral Acute Depigmentation of the Iris |
18 |
1469 |
|
CHN067 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
18 |
1470 |
|
PYK001 |
Pyknoachondrogenesis |
18 |
1471 |
|
CRV063 |
Cervical Spina Bifida Aperta |
18 |
1472 |
|
PLD002 |
Pilodental Dysplasia with Refractive Errors |
18 |
1473 |
c
|
INH022 |
Inherited Ichthyosis |
18 |
1474 |
|
21Q001 |
21q22.11q22.12 Microdeletion Syndrome |
18 |
1475 |
|
MCR317 |
Macrophthalmia, Colobomatous, with Microcornea |
18 |
1476 |
|
SBR011 |
Subaortic Stenosis--Short Stature Syndrome |
18 |
1477 |
|
VNT031 |
Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence |
18 |
1478 |
|
ECT069 |
Ectodermal Dysplasia 8, Hair/tooth/nail Type |
18 |
1479 |
|
TRN017 |
Transient Neonatal Neutropenia |
18 |
1480 |
c
|
DFN382 |
Deafness, Autosomal Dominant 76 |
18 |
1481 |
P
|
HRD043 |
Hereditary Congenital Facial Paresis |
18 |
1482 |
|
MSC019 |
Mosaic Trisomy 7 |
18 |
1483 |
|
STT008 |
Steatocystoma Multiplex with Natal Teeth |
18 |
1484 |
|
BLP042 |
Blepharoptosis, Myopia, and Ectopia Lentis |
18 |
1485 |
|
MCR303 |
Macrosomia with Microphthalmia, Lethal |
18 |
1486 |
|
CNG347 |
Congenital Tricuspid Stenosis |
18 |
1487 |
|
LMB057 |
Lumbosacral Spina Bifida Aperta |
18 |
1488 |
|
PLY133 |
Polysyndactyly with Cardiac Malformation |
18 |
1489 |
c
|
CRN068 |
Corneal Endothelial Dystrophy Type 2 |
18 |
1490 |
c
|
HYD068 |
Hydatidiform Mole, Recurrent, 4 |
17 |
1491 |
|
5Q3001 |
5q35 Microduplication Syndrome |
17 |
1492 |
|
SLV018 |
Silver-Russell Syndrome Due to 11p15 Microduplication |
17 |
1493 |
|
16P003 |
16p13.11 Microdeletion Syndrome |
17 |
1494 |
|
TBL027 |
Tubulinopathy-Associated Dysgyria |
17 |
1495 |
c
|
OVR118 |
Ovarian Dysgenesis 6 |
17 |
1496 |
|
CNG284 |
Congenital Pseudoarthrosis of the Tibia |
17 |
1497 |
|
DBL010 |
Double-Orifice Mitral Valve |
17 |
1498 |
|
SPS196 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy |
17 |
1499 |
|
AMN013 |
Aminopterin/methotrexate Embryofetopathy |
17 |
1500 |
|
ENC043 |
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
17 |
1501 |
|
THR084 |
Thoracolumbosacral Spina Bifida Cystica |
17 |
1502 |
|
UPP008 |
Upper Thoracic Spina Bifida Aperta |
17 |
1503 |
c
|
DFN385 |
Deafness, Autosomal Dominant 78 |
17 |
1504 |
|
MTH070 |
Methimazole Antenatal Exposure |
17 |
1505 |
|
THR033 |
Thoracomelic Dysplasia |
17 |
1506 |
|
TRG007 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet |
17 |
1507 |
|
TRC113 |
Trichoodontoonychial Dysplasia with Bone Deficiency |
17 |
1508 |
c
|
MTR063 |
Maternal Uniparental Disomy of Chromosome 2 |
17 |
1509 |
|
LSS034 |
Lissencephaly Type Iii and Bone Dysplasia |
17 |
1510 |
|
1QD001 |
1q Duplications |
16 |
1511 |
|
MSC079 |
Mosaic Trisomy 1 |
16 |
1512 |
|
BKS002 |
Book Syndrome |
16 |
1513 |
|
RDL030 |
Radial-Renal Syndrome |
16 |
1514 |
c
|
PGT006 |
Paget Disease of Bone 4 |
16 |
1515 |
c
|
ANG052 |
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 |
16 |
1516 |
|
UMB001 |
Umbilical Cord Ulceration and Intestinal Atresia |
16 |
1517 |
|
HRS037 |
Hirschsprung Disease with Type D Brachydactyly |
16 |
1518 |
|
HND012 |
Handigodu Joint Disease |
16 |
1519 |
|
49X005 |
49, Xxxyy Syndrome |
16 |
1520 |
c
|
JVN036 |
Juvenile Sialidosis Type 2 |
16 |
1521 |
|
DSL002 |
Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism |
16 |
1522 |
c
|
RNG011 |
Ring Chromosome 16 |
16 |
1523 |
|
CMP073 |
Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia |
16 |
1524 |
|
DDL001 |
Didelphys Uterus |
16 |
1525 |
|
ESS005 |
Essential Iris Atrophy |
16 |
1526 |
|
ART091 |
Aorto-Ventricular Tunnel |
16 |
1527 |
|
CLB008 |
Coloboma of Eye Lens |
16 |
1528 |
|
MRF018 |
Marfanoid Habitus with Microcephaly and Glomerulonephritis |
16 |
1529 |
|
DYS049 |
Dysplastic Cortical Hyperostosis |
16 |
1530 |
c
|
CHR180 |
Chromosome 10, Uniparental Disomy |
16 |
1531 |
|
HYP727 |
Hypoglossia with Situs Inversus |
16 |
1532 |
c
|
NLD010 |
Nail Disorder, Nonsyndromic Congenital, 6 |
16 |
1533 |
|
CMM018 |
Common Mesentery |
16 |
1534 |
c
|
ATS454 |
Autosomal Trisomy |
16 |
1535 |
|
PCT002 |
Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails |
16 |
1536 |
|
ALB022 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
16 |
1537 |
|
APH014 |
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv |
16 |
1538 |
|
8P1001 |
8p11.2 Deletion Syndrome |
15 |
1539 |
|
TLP002 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals |
15 |
1540 |
c
|
BNM031 |
Bone Mineral Density Quantitative Trait Locus 17 |
15 |
1541 |
|
SPT015 |
Septate Vagina |
15 |
1542 |
|
VLF001 |
Velofacioskeletal Syndrome |
15 |
1543 |
|
8Q1001 |
8q12 Microduplication Syndrome |
15 |
1544 |
|
XP2001 |
Xp22.3 Microdeletion Syndrome |
15 |
1545 |
|
MCR242 |
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma |
15 |
1546 |
|
ECT091 |
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type |
15 |
1547 |
|
CRY029 |
Cryptomicrotia-Brachydactyly Syndrome |
15 |
1548 |
c
|
RNG031 |
Ring Chromosome Y Syndrome |
15 |
1549 |
|
PRM334 |
Primary Bone Dysplasia with Increased Bone Density |
15 |
1550 |
|
DST038 |
Distal Monosomy 7q36 |
15 |
1551 |
|
TRP023 |
Triphalangeal Thumbs and Dislocation of Patella |
15 |
1552 |
|
OST061 |
Osteosclerosis with Ichthyosis and Premature Ovarian Failure |
15 |
1553 |
c
|
OLV005 |
Olivopontocerebellar Atrophy V |
15 |
1554 |
|
20P001 |
20p12.3 Microdeletion Syndrome |
15 |
1555 |
|
DST082 |
Distal Trisomy 10q |
15 |
1556 |
c
|
UNP011 |
Uniparental Disomy of Chromosome 14 |
15 |
1557 |
|
DST035 |
Distal Trisomy 18q |
15 |
1558 |
|
CRD014 |
Cardiac Diverticulum |
15 |
1559 |
|
OVR110 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
15 |
1560 |
c
|
ISC010 |
Isochromosome Yp |
15 |
1561 |
|
EXT058 |
Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly |
15 |
1562 |
|
CMP079 |
Complete Septate Uterus |
15 |
1563 |
|
ISL118 |
Isolated Tracheoesophageal Fistula |
15 |
1564 |
c
|
SYN077 |
Syndromic X-Linked Intellectual Disability 12 |
15 |
1565 |
|
LNG102 |
Long-Thumb Brachydactyly Syndrome |
15 |
1566 |
c
|
GLL043 |
Galloway-Mowat Syndrome 2 |
15 |
1567 |
c
|
BLN020 |
Blount Disease, Infantile |
15 |
1568 |
|
ORL024 |
Oral and Digital Anomalies with Ichthyosis |
15 |
1569 |
|
BRN122 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
14 |
1570 |
c
|
UNP012 |
Uniparental Disomy of Chromosome 7 |
14 |
1571 |
|
BWN005 |
Bowing of Long Bones Congenital |
14 |
1572 |
|
ADC008 |
Adactylia, Unilateral |
14 |
1573 |
|
SLV016 |
Silver-Russell Syndrome Due to 7p11.2p13 Microduplication |
14 |
1574 |
|
BLT020 |
Bilateral Multicystic Dysplastic Kidney |
14 |
1575 |
|
PSD102 |
Pseudohermaphroditism, Female, with Skeletal Anomalies |
14 |
1576 |
|
CNG518 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
14 |
1577 |
c
|
HYP545 |
Hypospadias 3, Autosomal |
14 |
1578 |
|
19P003 |
19p13.3 Microduplication Syndrome |
14 |
1579 |
|
ESP040 |
Esophageal Duplication Cyst |
14 |
1580 |
|
DST055 |
Distal 22q11.2 Microduplication Syndrome |
14 |
1581 |
|
FRN047 |
Frontonasal Dysplasia with Alar Clefts |
14 |
1582 |
|
MNS013 |
Monosomy 13q34 |
14 |
1583 |
c
|
MTR060 |
Maternal Uniparental Disomy of Chromosome 9 |
14 |
1584 |
|
ANR045 |
Aneurysm of Interventricular Septum |
14 |
1585 |
|
PRB002 |
Proboscis Lateralis |
14 |
1586 |
|
MDL016 |
Midline Cervical Cleft |
14 |
1587 |
c
|
CLC009 |
Clcn7-Related Osteopetrosis |
14 |
1588 |
|
BNK001 |
Banki Syndrome |
14 |
1589 |
|
TRN046 |
Transverse Vaginal Septum |
14 |
1590 |
|
PHL009 |
Phalangeal Microgeodic Syndrome |
14 |
1591 |
|
SCL050 |
Scoliosis, Arachnodactyly, and Blindness |
14 |
1592 |
|
RNL109 |
Renal Hypoplasia, Bilateral |
14 |
1593 |
|
6P2001 |
6p22 Microdeletion Syndrome |
14 |
1594 |
|
PRM319 |
Primary Bone Dysplasia |
14 |
1595 |
c
|
DFN387 |
Deafness, Autosomal Recessive 116 |
14 |
1596 |
|
9Q2003 |
9q21.13 Microdeletion Syndrome |
14 |
1597 |
|
APH013 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
14 |
1598 |
c
|
SCN046 |
Secondary Short Bowel Syndrome |
14 |
1599 |
|
10Q002 |
10q22.3q23.3 Microduplication Syndrome |
13 |
1600 |
c
|
MCR282 |
Microcephaly and Chorioretinopathy 1 |
13 |
1601 |
|
CCN010 |
Cocaine Embryofetopathy |
13 |
1602 |
|
PTR014 |
Paternal 20q13.2q13.3 Microdeletion Syndrome |
13 |
1603 |
|
HYP671 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
13 |
1604 |
|
MSC078 |
Mosaic Trisomy 17 |
13 |
1605 |
|
HRN021 |
Hernández-Aguirre Negrete Syndrome |
13 |
1606 |
|
CMP022 |
Camptodactyly Taurinuria |
13 |
1607 |
|
CNT114 |
Central Nervous System Malformation |
13 |
1608 |
|
DFN310 |
Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy |
13 |
1609 |
|
PHN013 |
Phenobarbital Antenatal Exposure |
13 |
1610 |
|
PRT206 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 |
13 |
1611 |
|
CRN307 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
13 |
1612 |
|
DVR007 |
Diverticulosis of Bowel, Hernia, and Retinal Detachment |
13 |
1613 |
|
SYN112 |
Syndromic Microphthalmia-Anophthalmia-Coloboma |
13 |
1614 |
|
DST052 |
Distal 7q11.23 Microduplication Syndrome |
13 |
1615 |
c
|
UNP003 |
Uniparental Disomy of Chromosome 11 |
13 |
1616 |
|
RCT033 |
Rectal Duplication |
13 |
1617 |
|
DST079 |
Distal Trisomy 5q |
13 |
1618 |
|
PRT237 |
Partial Deletion of the Long Arm of Chromosome 16 |
13 |
1619 |
|
ERL036 |
Early-Onset Posterior Subcapsular Cataract |
13 |
1620 |
c
|
CMP100 |
Campomelic Dysplasia and Related Disorders |
12 |
1621 |
|
ISL111 |
Isolated Arrhinia |
12 |
1622 |
c
|
TRS033 |
Trisomy 18-Like Syndrome |
12 |
1623 |
c
|
BNM021 |
Bone Mineral Density Quantitative Trait Locus 7 |
12 |
1624 |
|
ANM075 |
Anomalous Aortic Origin of Coronary Artery |
12 |
1625 |
|
PST104 |
Postaxial Oligodactyly, Tetramelic |
12 |
1626 |
|
CNT102 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
12 |
1627 |
|
CRN271 |
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism |
12 |
1628 |
|
OST114 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
12 |
1629 |
|
NND005 |
Non-Distal Trisomy 13q |
12 |
1630 |
|
CNG235 |
Congenital Microgastria |
12 |
1631 |
|
APR008 |
Aprosencephaly and Cerebellar Dysgenesis |
12 |
1632 |
|
OST142 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
12 |
1633 |
|
CNG587 |
Congenital Limb Malformation |
12 |
1634 |
|
RTN189 |
Retinal Capillary Malformation |
12 |
1635 |
|
ANR041 |
Aniridia-Intellectual Disability Syndrome |
12 |
1636 |
|
ANN018 |
Anonychia, Total, with Microcephaly |
12 |
1637 |
|
CNG335 |
Congenital Ectropion Uveae |
12 |
1638 |
|
MSC090 |
Mosaic Trisomy 3 |
12 |
1639 |
|
DST071 |
Distal Monosomy 19p13.3 |
12 |
1640 |
c
|
ADL101 |
Adult-Onset Steinert Myotonic Dystrophy |
12 |
1641 |
|
NND004 |
Non-Distal Monosomy 10q |
12 |
1642 |
|
FBL015 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
12 |
1643 |
|
LWR017 |
Lower Limb Malformation-Hypospadias Syndrome |
12 |
1644 |
|
PRT180 |
Partial Deletion of the Long Arm of Chromosome 7 |
12 |
1645 |
|
ART097 |
Aorto-Left Ventricular Tunnel |
12 |
1646 |
|
XLN204 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
12 |
1647 |
c
|
BCK012 |
Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 |
11 |
1648 |
|
LBR027 |
Laubry-Pezzi Syndrome |
11 |
1649 |
c
|
RRC022 |
Rare Chromosomal Anomaly |
11 |
1650 |
c
|
BFD005 |
Bifid Nose, Autosomal Recessive |
11 |
1651 |
|
CNG490 |
Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome |
11 |
1652 |
|
MGC005 |
Megacystis-Megaureter Syndrome |
11 |
1653 |
|
CNG282 |
Congenital Knee Dislocation |
11 |
1654 |
|
FRN052 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
11 |
1655 |
|
XLN157 |
X-Linked Intellectual Disability, Porteous Type |
11 |
1656 |
|
DYS044 |
Dysmorphism Cleft Palate Loose Skin |
11 |
1657 |
P
|
RRN017 |
Rare Intellectual Disability |
11 |
1658 |
|
ACH028 |
Acheiria |
11 |
1659 |
|
PRT200 |
Partial Duplication of the Long Arm of Chromosome 2 |
11 |
1660 |
c
|
ZYG007 |
Zygodactyly Type 3 |
11 |
1661 |
c
|
ORF006 |
Orofaciodigital Syndrome 13 |
11 |
1662 |
|
OST144 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
11 |
1663 |
|
PRT178 |
Partial Deletion of the Long Arm of Chromosome 5 |
11 |
1664 |
|
ARC022 |
Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome |
11 |
1665 |
|
PRT215 |
Partial Duplication of the Short Arm of Chromosome 2 |
10 |
1666 |
c
|
ATS448 |
Autosomal Recessive Brachyolmia |
10 |
1667 |
c
|
CNG257 |
Congenital Pulmonary Sequestration |
10 |
1668 |
|
MRN008 |
Marin-Amat Syndrome |
10 |
1669 |
c
|
CHR161 |
Chiari Malformation Type 3 |
10 |
1670 |
|
LFT022 |
Left Sided Atrial Isomerism |
10 |
1671 |
c
|
BNM017 |
Bone Mineral Density Quantitative Trait Locus 2 |
10 |
1672 |
c
|
BNM026 |
Bone Mineral Density Quantitative Trait Locus 12 |
10 |
1673 |
|
PRM246 |
Primary Tethered Cord Syndrome |
10 |
1674 |
|
MTP011 |
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth |
10 |
1675 |
|
PRT204 |
Partial Duplication of the Long Arm of Chromosome 4 |
10 |
1676 |
|
FCL058 |
Facial Arteriovenous Malformation |
10 |
1677 |
|
PRM302 |
Paramedian Facial Cleft |
10 |
1678 |
c
|
BFD004 |
Bifid Nose, Autosomal Dominant |
10 |
1679 |
|
ONY006 |
Onychodystrophy-Anonychia |
10 |
1680 |
|
RNL107 |
Renal Dysplasia, Bilateral |
10 |
1681 |
|
DST089 |
Distal Trisomy 3p |
10 |
1682 |
|
XLN147 |
X-Linked Intellectual Disability, Stoll Type |
10 |
1683 |
|
PRT164 |
Partial Deletion of the Short Arm of Chromosome 8 |
10 |
1684 |
c
|
CNG251 |
Congenital Pericardium Anomaly |
10 |
1685 |
c
|
BNM023 |
Bone Mineral Density Quantitative Trait Locus 9 |
9 |
1686 |
c
|
BNM024 |
Bone Mineral Density Quantitative Trait Locus 10 |
9 |
1687 |
c
|
BNM028 |
Bone Mineral Density Quantitative Trait Locus 14 |
9 |
1688 |
|
4P1001 |
4p16.3 Microduplication Syndrome |
9 |
1689 |
|
DST081 |
Distal Trisomy 11q |
9 |
1690 |
|
HYP584 |
Hypotrichosis-Intellectual Disability, Lopes Type |
9 |
1691 |
c
|
TRN078 |
Transient Antenatal Bartter Syndrome |
9 |
1692 |
|
PRT160 |
Partial Deletion of the Short Arm of Chromosome 4 |
9 |
1693 |
|
PRT187 |
Partial Duplication of Chromosome X |
9 |
1694 |
c
|
WDR002 |
Wdr26-Related Intellectual Disability |
9 |
1695 |
|
PRT106 |
Partial Duplication of the Short Arm of Chromosome X |
9 |
1696 |
c
|
BNM019 |
Bone Mineral Density Quantitative Trait Locus 5 |
9 |
1697 |
|
BLR023 |
Biliary Atresia with Splenic Malformation Syndrome |
9 |
1698 |
c
|
CNG406 |
Congenital Pulmonary Airway Malformation Type 0 |
9 |
1699 |
|
RNL106 |
Renal Dysplasia, Unilateral |
9 |
1700 |
c
|
MTR064 |
Maternal Uniparental Disomy of Chromosome 22 |
9 |
1701 |
|
SPN341 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
9 |
1702 |
c
|
UNP009 |
Uniparental Disomy of Chromosome 20 |
9 |
1703 |
|
DST076 |
Distal Trisomy 13q |
9 |
1704 |
|
PRC042 |
Parachute Tricuspid Valve |
9 |
1705 |
|
INV017 |
Inverse Marcus-Gunn Phenomenon |
9 |
1706 |
P
|
PRT183 |
Partial Monosomy of the Long Arm of Chromosome 10 |
9 |
1707 |
|
MCR301 |
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
9 |
1708 |
c
|
BNM027 |
Bone Mineral Density Quantitative Trait Locus 13 |
9 |
1709 |
|
CNG272 |
Congenital Achiasma |
9 |
1710 |
|
ANG057 |
Angioosteohypotrophic Syndrome |
9 |
1711 |
c
|
SCN085 |
Secondary Ectropion |
9 |
1712 |
|
CNG283 |
Congenital Pseudoarthrosis of the Femur |
9 |
1713 |
|
OMP003 |
Omphalomesenteric Cyst |
8 |
1714 |
|
PRT228 |
Partial Duplication of Chromosome 1 |
8 |
1715 |
|
HMR042 |
Humero-Ulnar Synostosis |
8 |
1716 |
c
|
ISC013 |
Isochromosomy Yq |
8 |
1717 |
c
|
BNM014 |
Bone Mineral Density Quantitative Trait Locus 4 |
8 |
1718 |
c
|
BNM020 |
Bone Mineral Density Quantitative Trait Locus 6 |
8 |
1719 |
|
PRT197 |
Partial Duplication of the Long Arm of Chromosome 15 |
8 |
1720 |
|
PRT203 |
Partial Duplication of the Long Arm of Chromosome 7 |
8 |
1721 |
|
DST057 |
Distal Trisomy 19q |
8 |
1722 |
|
CNG327 |
Congenital Epstein-Barr Virus Infection |
8 |
1723 |
c
|
MTR065 |
Maternal Uniparental Disomy of Chromosome 21 |
8 |
1724 |
c
|
GLC032 |
Glaucoma, Hereditary |
8 |
1725 |
|
PRT231 |
Partial Duplication of Chromosome 4 |
8 |
1726 |
|
MDL028 |
Midline Cerebral Malformation |
8 |
1727 |
|
RNL108 |
Renal Hypoplasia, Unilateral |
8 |
1728 |
c
|
RRR004 |
Rare Arteriovenous Malformation |
8 |
1729 |
|
PRT174 |
Partial Deletion of the Long Arm of Chromosome 1 |
8 |
1730 |
|
PRT181 |
Partial Deletion of the Long Arm of Chromosome 8 |
8 |
1731 |
|
TRS020 |
Tarsal Kink Syndrome |
8 |
1732 |
|
PRT171 |
Partial Deletion of the Short Arm of Chromosome 18 |
8 |
1733 |
c
|
DXT005 |
Dextro-Looped Transposition of the Great Arteries 3 |
8 |
1734 |
|
MCR294 |
Macrocephaly-Short Stature-Paraplegia Syndrome |
8 |
1735 |
|
TRC108 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
8 |
1736 |
|
RRV006 |
Rare Venous Malformation |
8 |
1737 |
|
ESP045 |
Esophageal Malformation |
8 |
1738 |
|
PRT152 |
Partial Deletion of Chromosome 10 |
8 |
1739 |
|
PRT177 |
Partial Deletion of the Long Arm of Chromosome 4 |
8 |
1740 |
|
PRT238 |
Partial Deletion of the Long Arm of Chromosome 17 |
8 |
1741 |
|
PRT241 |
Partial Deletion of the Long Arm of Chromosome 20 |
8 |
1742 |
|
CNG318 |
Congenital Genu Recurvatum |
8 |
1743 |
|
CRN208 |
Coronary Sinus Atresia |
8 |
1744 |
|
CNG517 |
Congenital Agenesis of the Scrotum |
7 |
1745 |
P
|
PRT173 |
Partial Monosomy of the Short Arm of Chromosome 20 |
7 |
1746 |
P
|
PRT196 |
Partial Trisomy of the Long Arm of Chromosome 16 |
7 |
1747 |
|
PRT234 |
Partial Duplication of Chromosome 7 |
7 |
1748 |
|
CLS027 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form |
7 |
1749 |
|
DST084 |
Distal Trisomy 8q |
7 |
1750 |
|
PLY086 |
Polyrrhinia |
7 |
1751 |
|
PRT235 |
Partial Deletion of the Long Arm of Chromosome 14 |
7 |
1752 |
|
URG006 |
Urogenital Tract Malformation |
7 |
1753 |
|
PRT146 |
Partial Deletion of Chromosome 8 |
7 |
1754 |
|
PRT149 |
Partial Deletion of Chromosome 7 |
7 |
1755 |
|
PRT217 |
Partial Duplication of the Short Arm of Chromosome 4 |
7 |
1756 |
|
PRM335 |
Primary Bone Dysplasia with Multiple Joint Dislocations |
7 |
1757 |
P
|
PRM337 |
Primary Osteolysis |
7 |
1758 |
c
|
PTR023 |
Paternal Uniparental Disomy of Chromosome 13 |
7 |
1759 |
c
|
PRT170 |
Partial Monosomy of the Short Arm of Chromosome 17 |
7 |
1760 |
|
PRT244 |
Partial Deletion of the Short Arm of Chromosome 12 |
7 |
1761 |
|
FTL049 |
Fetal Carbamazepine Syndrome |
7 |
1762 |
|
ISL064 |
Isolated Ankyloblepharon Filiforme Adnatum |
7 |
1763 |
P
|
NNS070 |
Non-Syndromic Cerebral Malformation |
6 |
1764 |
P
|
TSS001 |
Tessier Number 5 Facial Cleft |
6 |
1765 |
|
PRT143 |
Partial Deletion of Chromosome 5 |
6 |
1766 |
|
PRT189 |
Partial Duplication of the Long Arm of Chromosome 19 |
6 |
1767 |
|
PRN015 |
Perinatal Intestinal Perforation |
6 |
1768 |
c
|
ATS489 |
Autosomal Dominant Nonsyndromic Deafness 76 |
6 |
1769 |
|
OTM002 |
Otomandibular Dysplasia |
6 |
1770 |
|
MLT170 |
Multiple Congenital Anomalies/dysmorphic Syndrome |
6 |
1771 |
|
12Q001 |
12q15q21.1 Microdeletion Syndrome |
6 |
1772 |
|
DZX006 |
Diazoxide-Resistant Focal Hyperinsulinism |
6 |
1773 |
|
DST074 |
Distal Trisomy 20q |
6 |
1774 |
P
|
RRC010 |
Rare Capillary Malformation |
6 |
1775 |
|
IDP088 |
Idiopathic Isolated Micropenis |
6 |
1776 |
|
CNG290 |
Congenital Absence of Both Lower Leg and Foot |
6 |
1777 |
|
ECT057 |
Ectasia of the Right Atrial Appendage |
6 |
1778 |
c
|
NNS047 |
Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration |
6 |
1779 |
|
HYP850 |
Hypoglossia/aglossia |
6 |
1780 |
|
ATY043 |
Atypical Norrie Disease Due to Xp11.3 Microdeletion |
6 |
1781 |
|
PRT191 |
Partial Duplication of the Long Arm of Chromosome 17 |
6 |
1782 |
|
RNN007 |
Reunion Island Larsen-Like Syndrome |
6 |
1783 |
|
TBL020 |
Tubular Duplication of the Esophagus |
6 |
1784 |
|
CMP105 |
Complete Atrioventricular Septal Defect Without Ventricular Hypoplasia |
6 |
1785 |
|
NSN002 |
Nose and Cavum Anomaly |
6 |
1786 |
c
|
CHR179 |
Chromosome 1, Uniparental Disomy 1q12 Q21 |
5 |
1787 |
|
PRT139 |
Partial Bilateral Aplasia of the Mullerian Ducts |
5 |
1788 |
|
LWR011 |
Lower Lip Fistula |
5 |
1789 |
|
PRT147 |
Partial Deletion of Chromosome 9 |
5 |
1790 |
|
PRT201 |
Partial Duplication of the Long Arm of Chromosome 3 |
5 |
1791 |
|
PRT209 |
Partial Duplication of the Short Arm of Chromosome 17 |
5 |
1792 |
|
PRT211 |
Partial Duplication of the Short Arm of Chromosome 11 |
5 |
1793 |
|
ISL153 |
Isolated Congenital Aglossia |
5 |
1794 |
|
GST110 |
Gastroduodenal Malformation |
5 |
1795 |
|
CNG345 |
Congenital Anomaly of Superior Vena Cava |
5 |
1796 |
|
DST066 |
Distal Monosomy 20q |
5 |
1797 |
|
DST077 |
Distal Trisomy 22q |
5 |
1798 |
|
LCR016 |
Lacrimal Drainage System Anomaly |
5 |
1799 |
c
|
PRX100 |
Proximal Symphalangism 2 |
5 |
1800 |
|
LTH051 |
Lethal Brain and Heart Developmental Defects |
5 |
1801 |
|
PRT212 |
Partial Duplication of the Short Arm of Chromosome 16 |
5 |
1802 |
|
PRM320 |
Primary Bone Dysplasia with Micromelia |
5 |
1803 |
|
3Q2005 |
3q26q27 Microdeletion Syndrome |
5 |
1804 |
|
PRT245 |
Partial Deletion of Chromosome 12 |
5 |
1805 |
|
RRC028 |
Rare Congenital Non-Syndromic Heart Malformation |
5 |
1806 |
|
DRG019 |
Drug-Related Renal Tubular Dysgenesis |
5 |
1807 |
|
PRM332 |
Primary Bone Dysplasia with Defective Bone Mineralization |
5 |
1808 |
|
PRM333 |
Primary Bone Dysplasia with Decreased Bone Density |
5 |
1809 |
|
PRM336 |
Primary Bone Dysplasia with Disorganized Development of Skeletal Components |
5 |
1810 |
|
SLN010 |
Slender Bone Dysplasia |
5 |
1811 |
c
|
CNG620 |
Congenital-Onset Steinert Myotonic Dystrophy |
5 |
1812 |
|
CNG601 |
Congenital Tricuspid Malformation |
5 |
1813 |
c
|
ATS402 |
Autosomal Dominant Nonsyndromic Deafness 34 |
5 |
1814 |
|
CNG438 |
Congenital Disorder of Glycosylation with Developmental Anomaly |
5 |
1815 |
|
UTR055 |
Uterine Cervical Aplasia and Agenesis |
5 |
1816 |
|
PRR038 |
Pierre Robin Syndrome Associated with Bone Disease |
5 |
1817 |
c
|
PRT194 |
Partial Trisomy of the Long Arm of Chromosome 9 |
5 |
1818 |
|
PRT227 |
Partial Deletion of the Long Arm of Chromosome 22 |
5 |
1819 |
|
CNG571 |
Congenital Disorder of Glycosylation-Related Bone Disorder |
5 |
1820 |
|
ISL117 |
Isolated Congenital Radial Head Dislocation |
5 |
1821 |
|
RSP024 |
Respiratory or Mediastinal Malformation |
5 |
1822 |
|
DST070 |
Distal Monosomy 4q |
5 |
1823 |
|
DBL013 |
Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect |
5 |
1824 |
|
SYN144 |
Syndromic Outer Canthal Malposition |
5 |
1825 |
|
CRN313 |
Corneodysgenesis |
5 |
1826 |
|
NLX006 |
Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency |
5 |
1827 |
|
SYN169 |
Syndrome with a Central Nervous System Malformation As a Major Feature |
5 |
1828 |
|
NNC007 |
Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency |
5 |
1829 |
c
|
LRP007 |
Lrp5-Related Primary Osteoporosis |
5 |
1830 |
|
46X075 |
46,xx Disorder of Sex Development Induced by Fetal Androgens Excess |
5 |
1831 |
c
|
LSS018 |
Lissencephaly with Cerebellar Hypoplasia Type F |
5 |
1832 |
|
NNS046 |
Non-Syndromic Urogenital Tract Malformation |
4 |
1833 |
|
LWS004 |
Low Isolated Anorectal Malformation |
4 |
1834 |
|
MDN007 |
Median Cleft Lip/mandibule |
4 |
1835 |
|
PRT142 |
Partial Deletion of Chromosome 4 |
4 |
1836 |
|
PRT157 |
Partial Deletion of Chromosome 19 |
4 |
1837 |
|
MXD034 |
Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations |
4 |
1838 |
|
CNG577 |
Congenital Deformities of Limbs |
4 |
1839 |
|
CNT081 |
Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome |
4 |
1840 |
|
ARX004 |
Arx-Related Encephalopathy-Brain Malformation Spectrum |
4 |
1841 |
|
RRC020 |
Rare Congenital Anomaly of Ventricular Septum |
4 |
1842 |
|
NND007 |
Non-Distal Monosomy 12q |
4 |
1843 |
|
NND009 |
Non-Distal Trisomy 9q |
4 |
1844 |
|
SYN141 |
Syndromic Renal or Urinary Tract Malformation |
4 |
1845 |
|
NNT057 |
Neonatal Osteosclerotic Dysplasia |
4 |
1846 |
|
SBR010 |
Subaortic Course of Innominate Vein |
4 |
1847 |
|
PLM178 |
Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome |
4 |
1848 |
|
CNG598 |
Congenital Malformation of the Eye with Glaucoma As a Major Feature |
4 |
1849 |
|
RRT022 |
Rare Atrial Defect and Interatrial Communication |
4 |
1850 |
|
SYN155 |
Syndromic Anorectal Malformation |
4 |
1851 |
|
MLT174 |
Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome |
4 |
1852 |
c
|
RRD018 |
Rare Disease with Pierre Robin Syndrome |
4 |
1853 |
c
|
RRD045 |
Rare Disorder with Ectropion |
4 |
1854 |
c
|
BLT012 |
Bilateral Renal Agenesis Dominant Type |
4 |
1855 |
|
CRD212 |
Cardiac Anomalies-Heterotaxy Syndrome |
4 |
1856 |
|
PNN004 |
Pinnae Fistula or Cyst |
4 |
1857 |
c
|
PRT188 |
Partial Trisomy of the Long Arm of Chromosome 20 |
4 |
1858 |
|
PRT224 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 |
4 |
1859 |
|
ISL035 |
Isolated Amyelia |
4 |
1860 |
|
SMP008 |
Simple Vascular Malformation |
4 |
1861 |
|
SYN118 |
Syndrome with Limb Reduction Defects |
4 |
1862 |
|
MRF016 |
Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome |
4 |
1863 |
|
HMR036 |
Humero-Ulnar Synostosis, Unilateral |
4 |
1864 |
|
PRT247 |
Partial Duplication of the Short Arm of Chromosome 19 |
4 |
1865 |
|
ISL126 |
Isolated Iridoschisis |
4 |
1866 |
|
SYN126 |
Syndromic Microspherophakia |
4 |
1867 |
|
UNL009 |
Unilateral Congenital Megacalycosis |
4 |
1868 |
|
DPH030 |
Diaphragmatic or Abdominal Wall Malformation |
4 |
1869 |
|
ABN010 |
Abnormal Number of Coronary Ostia |
4 |
1870 |
|
ISL071 |
Isolated Congenital Ectropion |
4 |
1871 |
|
MCR377 |
Microblepharon-Ablephara Syndrome |
4 |
1872 |
|
LNS009 |
Lens Size Anomaly |
4 |
1873 |
|
ERL060 |
Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia |
4 |
1874 |
c
|
RRD046 |
Rare Disorder with Entropion |
4 |
1875 |
|
HYP506 |
Hypoplasia of the Mitral Valve Annulus |
4 |
1876 |
|
HGH040 |
High Isolated Anorectal Malformation |
4 |
1877 |
|
MDN006 |
Median Cleft of the Upper Lip and Maxilla |
4 |
1878 |
|
ISL107 |
Isolated Congenital Syngnathia |
4 |
1879 |
|
PRT156 |
Partial Deletion of Chromosome 20 |
4 |
1880 |
|
MLF006 |
Malformation of the Neurenteric Canal, Spinal Cord and Column |
4 |
1881 |
|
PRT243 |
Partial Duplication of the Short Arm of Chromosome 1 |
4 |
1882 |
|
SGM005 |
Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia |
4 |
1883 |
|
CNG576 |
Congenital Deformities of Fingers |
4 |
1884 |
|
SPG003 |
Spigelian Hernia-Cryptorchidism Syndrome |
4 |
1885 |
|
CNG315 |
Congenital Vertical Talus, Unilateral |
4 |
1886 |
|
MCR187 |
Macrodactyly of Fingers, Bilateral |
4 |
1887 |
|
LTH049 |
Lethal Multiple Congenital Anomalies/dysmorphic Syndrome |
4 |
1888 |
|
MYB004 |
Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome |
4 |
1889 |
|
CNG493 |
Congenital Generalized Hypercontractile Muscle Stiffness Syndrome |
4 |
1890 |
c
|
PTR021 |
Paternal Uniparental Disomy of Chromosome 21 |
4 |
1891 |
|
NNS058 |
Non-Syndromic Renal or Urinary Tract Malformation |
4 |
1892 |
|
SYN156 |
Syndrome with Limb Malformations As a Major Feature |
4 |
1893 |
|
NNS064 |
Non-Syndromic Central Nervous System Malformation |
4 |
1894 |
|
SYN159 |
Syndromic Diaphragmatic or Abdominal Wall Malformation |
4 |
1895 |
|
MLF004 |
Malformation Syndrome with Odontal and/or Periodontal Component |
3 |
1896 |
|
MTR085 |
Maternal Disease-Related Embryofetopathy |
3 |
1897 |
|
TRC124 |
True Congenital Shoulder Dislocation |
3 |
1898 |
|
SYN130 |
Syndromic Lacrimal System Disorder |
3 |
1899 |
|
RRT021 |
Rare Otorhinolaryngological Malformation |
3 |
1900 |
|
CNG341 |
Congenital Anomaly of the Coronary Sinus |
3 |
1901 |
|
STR075 |
Straddling or Overriding Tricuspid Valve |
3 |
1902 |
|
CNG349 |
Congenital Patent Ductus Arteriosus Aneurysm |
3 |
1903 |
|
HRT042 |
Heart Position Anomaly |
3 |
1904 |
c
|
DNS012 |
Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum |
3 |
1905 |
|
PSD120 |
Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy |
3 |
1906 |
|
RRV004 |
Rare Vaginal Malformation |
3 |
1907 |
|
NNS051 |
Non-Syndromic Urogenital Tract Malformation of Male |
3 |
1908 |
|
PRR036 |
Pierre Robin Syndrome Associated with Collagen Disease |
3 |
1909 |
|
PRR037 |
Pierre Robin Syndrome Associated with a Chromosomal Anomaly |
3 |
1910 |
|
PRR039 |
Pierre Robin Syndrome Associated with Branchial Archs Anomalies |
3 |
1911 |
|
RRS007 |
Rare Syndrome with Cardiac Malformations |
3 |
1912 |
|
PRT214 |
Partial Trisomy/tetrasomy of Chromosome 18 |
3 |
1913 |
|
PRT221 |
Partial Trisomy/tetrasomy of Chromosome 9 |
3 |
1914 |
|
PRT232 |
Partial Trisomy/tetrasomy of Chromosome 5 |
3 |
1915 |
|
LPM014 |
Lipoma Associated with Neurospinal Dysraphism |
3 |
1916 |
|
OTH026 |
Other Syndrome with a Central Nervous System Malformation As a Major Feature |
3 |
1917 |
|
CNT113 |
Central Nervous System Cystic Malformation |
3 |
1918 |
|
INF180 |
Infantile Hemangioma of Rare Localization |
3 |
1919 |
|
EPB005 |
Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome |
3 |
1920 |
|
RRC017 |
Rare Capillary Malformation with Associated Anomalies |
3 |
1921 |
|
OVR126 |
Overgrowth or Tall Stature Syndrome with Skeletal Involvement |
3 |
1922 |
|
GNT161 |
Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy |
3 |
1923 |
|
ISL152 |
Isolated Congenital Hypoglossia |
3 |
1924 |
|
DPH029 |
Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome |
3 |
1925 |
|
ATS455 |
Autosomal Uniparental Disomy |
3 |
1926 |
|
SXC006 |
Sex-Chromosome Structural Anomaly |
3 |
1927 |
c
|
CHR691 |
Chromosome X Structural Anomaly |
3 |
1928 |
|
CRN315 |
Cranial Nerve and Nuclear Aplasia |
3 |
1929 |
|
NNS062 |
Non-Syndromic Limb Malformation |
3 |
1930 |
|
SYN161 |
Syndromic Visceral Malformation |
3 |
1931 |
|
RRH012 |
Rare Head and Neck Malformation |
3 |
1932 |
|
TXC022 |
Toxic or Drug-Related Embryofetopathy |
3 |
1933 |
|
RRD038 |
Rare Disorder with Hirschsprung Disease As a Major Feature |
3 |
1934 |
|
PTL012 |
Patellar Dysostosis |
3 |
1935 |
|
NNS068 |
Non-Syndromic Intestinal Malformation |
3 |
1936 |
|
NNS050 |
Non-Syndromic Urogenital Tract Malformation of Female |
2 |
1937 |
|
ORM003 |
Oromandibular-Limb Anomalies Syndrome |
2 |
1938 |
|
PLY186 |
Polysomy of X Chromosome |
2 |
1939 |
|
PRT248 |
Partial Autosomal Trisomy/tetrasomy |
2 |
1940 |
P
|
TST021 |
Testicular Germ Cell Tumor |
61 |
1941 |
c
|
TST046 |
Testicular Germ Cell Tumor 1 |
26 |
1942 |
|
UND001 |
Undifferentiated Embryonal Sarcoma of the Liver |
31 |
1943 |
P
|
MDL005 |
Medulloblastoma |
75 |
1944 |
P
|
PTN014 |
Patent Ductus Arteriosus 1 |
59 |
1945 |
c
|
NML003 |
Nemaline Myopathy 2 |
51 |
1946 |
c
|
NML002 |
Nemaline Myopathy 1 |
49 |
1947 |
P
|
NML001 |
Nemaline Myopathy |
48 |
1948 |
|
GRC001 |
Gracile Syndrome |
47 |
1949 |
c
|
NML004 |
Nemaline Myopathy 3 |
47 |
1950 |
c
|
ADL023 |
Adult Medulloblastoma |
42 |
1951 |
|
SPR008 |
Supratentorial Primitive Neuroectodermal Tumor |
42 |
1952 |
c
|
NML006 |
Nemaline Myopathy 5 |
41 |
1953 |
c
|
NML010 |
Nemaline Myopathy 7 |
39 |
1954 |
c
|
NML005 |
Nemaline Myopathy 4 |
38 |
1955 |
c
|
SVR040 |
Severe Congenital Nemaline Myopathy |
37 |
1956 |
c
|
INT274 |
Intermediate Congenital Nemaline Myopathy |
36 |
1957 |
c
|
NML025 |
Nemaline Myopathy 8 |
36 |
1958 |
c
|
NML021 |
Nemaline Myopathy 9 |
33 |
1959 |
c
|
NML024 |
Nemaline Myopathy 11, Autosomal Recessive |
33 |
1960 |
c
|
NML007 |
Nemaline Myopathy 6 |
30 |
1961 |
c
|
ADL068 |
Adult-Onset Nemaline Myopathy |
23 |
1962 |
c
|
CNG579 |
Congenital Nemaline Myopathy |
18 |
1963 |
|
CHL048 |
Childhood Teratocarcinoma of the Testis |
7 |
1964 |
|
CHL031 |
Childhood Vagina Botryoid Rhabdomyosarcoma |
7 |
1965 |
P
|
NJM001 |
Nijmegen Breakage Syndrome |
76 |
1966 |
|
BRT054 |
Brittle Bone Disorder |
74 |
1967 |
|
PTZ001 |
Peutz-Jeghers Syndrome |
70 |
1968 |
c
|
MCP001 |
Mucopolysaccharidosis Iii |
69 |
1969 |
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
69 |
1970 |
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
68 |
1971 |
P
|
CNG001 |
Congenital Myasthenic Syndrome |
68 |
1972 |
P
|
CRN037 |
Craniosynostosis |
68 |
1973 |
|
ART002 |
Arts Syndrome |
66 |
1974 |
|
HLT001 |
Holt-Oram Syndrome |
66 |
1975 |
P
|
NRB001 |
Neuroblastoma |
66 |
1976 |
|
CNC002 |
Cinca Syndrome |
66 |
1977 |
P
|
MLG056 |
Malignant Hyperthermia |
66 |
1978 |
P
|
CMP005 |
Campomelic Dysplasia |
65 |
1979 |
c
|
HYP604 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
65 |
1980 |
P
|
ZLL001 |
Zellweger Syndrome |
65 |
1981 |
|
BLM001 |
Bloom Syndrome |
65 |
1982 |
P
|
LYS001 |
Loeys-Dietz Syndrome |
65 |
1983 |
P
|
HRP006 |
Herpes Simplex |
65 |
1984 |
|
NNN026 |
Noonan Syndrome with Multiple Lentigines |
65 |
1985 |
|
FCL009 |
Focal Dermal Hypoplasia |
64 |
1986 |
|
GRG001 |
Greig Cephalopolysyndactyly Syndrome |
64 |
1987 |
|
CRN036 |
Craniopharyngioma |
64 |
1988 |
P
|
PRT008 |
Proteus Syndrome |
63 |
1989 |
|
AND002 |
Androgen Insensitivity Syndrome |
63 |
1990 |
P
|
ECT006 |
Ectodermal Dysplasia |
63 |
1991 |
|
ELL001 |
Ellis-Van Creveld Syndrome |
62 |
1992 |
P
|
BCK002 |
Beckwith-Wiedemann Syndrome |
62 |
1993 |
c
|
HYP304 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
61 |
1994 |
|
NRR002 |
Norrie Disease |
61 |
1995 |
|
CNG410 |
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly |
61 |
1996 |
|
ART141 |
Arteriovenous Malformations of the Brain |
60 |
1997 |
c
|
WLF013 |
Wolfram Syndrome 1 |
60 |
1998 |
c
|
CCK008 |
Cockayne Syndrome a |
59 |
1999 |
|
KLP010 |
Klippel-Trenaunay-Weber Syndrome |
59 |
2000 |
c
|
NRB010 |
Neuroblastoma 1 |
59 |
2001 |
|
FCL081 |
Focal Cortical Dysplasia, Type Ii |
59 |
2002 |
c
|
CRP023 |
Carpenter Syndrome 1 |
59 |
2003 |
|
HYP042 |
Hypochondroplasia |
59 |
2004 |
|
PSD012 |
Pseudoachondroplasia |
59 |
2005 |
P
|
SCL048 |
Sclerosteosis |
58 |
2006 |
P
|
SCK004 |
Seckel Syndrome |
58 |
2007 |
P
|
DXT004 |
Dextro-Looped Transposition of the Great Arteries |
58 |
2008 |
|
PPL048 |
Papillorenal Syndrome |
58 |
2009 |
c
|
ART061 |
Arthrogryposis, Distal, Type 2a |
58 |
2010 |
|
TTL012 |
Total Anomalous Pulmonary Venous Return 1 |
58 |
2011 |
|
MCS006 |
Macs Syndrome |
58 |
2012 |
P
|
EHL001 |
Ehlers-Danlos Syndrome |
58 |
2013 |
P
|
ADM011 |
Adams-Oliver Syndrome |
58 |
2014 |
c
|
MYT020 |
Myotonic Dystrophy 2 |
57 |
2015 |
c
|
GLC097 |
Glaucoma 3, Primary Congenital, a |
57 |
2016 |
|
VCS001 |
Vici Syndrome |
57 |
2017 |
|
SPR004 |
Supravalvular Aortic Stenosis |
57 |
2018 |
P
|
CLS054 |
Classic Ehlers-Danlos Syndrome |
57 |
2019 |
|
LCR014 |
Lacrimoauriculodentodigital Syndrome |
57 |
2020 |
|
WLF002 |
Wolf-Hirschhorn Syndrome |
57 |
2021 |
|
CLF004 |
Cleft Lip/palate |
57 |
2022 |
|
MNK003 |
Muenke Syndrome |
57 |
2023 |
c
|
MSC109 |
Mosaic Variegated Aneuploidy Syndrome 1 |
57 |
2024 |
c
|
RBN021 |
Rubinstein-Taybi Syndrome 1 |
57 |
2025 |
|
HST017 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
57 |
2026 |
|
NWB001 |
Newborn Respiratory Distress Syndrome |
56 |
2027 |
P
|
ICH004 |
Ichthyosis |
56 |
2028 |
P
|
FNC044 |
Fanconi Anemia, Complementation Group C |
56 |
2029 |
c
|
FNC029 |
Fanconi Anemia, Complementation Group I |
56 |
2030 |
c
|
OTP007 |
Otopalatodigital Syndrome, Type Ii |
56 |
2031 |
c
|
LSS006 |
Lissencephaly 2 |
55 |
2032 |
P
|
TWN003 |
Townes-Brocks Syndrome |
55 |
2033 |
c
|
RBN022 |
Robinow Syndrome, Autosomal Recessive 1 |
55 |
2034 |
|
HMF006 |
Hemifacial Microsomia |
55 |
2035 |
P
|
FTL001 |
Fetal Alcohol Syndrome |
55 |
2036 |
|
DFN344 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome |
55 |
2037 |
P
|
MRG008 |
Meier-Gorlin Syndrome 1 |
55 |
2038 |
|
DNN002 |
Donnai-Barrow Syndrome |
55 |
2039 |
|
MTP025 |
Metaphyseal Chondrodysplasia, Schmid Type |
55 |
2040 |
|
MGC002 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
55 |
2041 |
|
IFP002 |
Ifap Syndrome 1, with or Without Bresheck Syndrome |
55 |
2042 |
c
|
FML347 |
Familial Adenomatous Polyposis 2 |
55 |
2043 |
|
ARS001 |
Aarskog-Scott Syndrome |
54 |
2044 |
c
|
SPN101 |
Spinocerebellar Ataxia 29 |
54 |
2045 |
c
|
ACH041 |
Achondrogenesis, Type Ii |
54 |
2046 |
|
PSD014 |
Pseudopseudohypoparathyroidism |
54 |
2047 |
|
MBS002 |
Moebius Syndrome |
54 |
2048 |
P
|
KRT028 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
54 |
2049 |
|
MCN007 |
Meconium Aspiration Syndrome |
53 |
2050 |
c
|
HYP260 |
Hypophosphatemic Rickets, Autosomal Dominant |
53 |
2051 |
P
|
ACH011 |
Achondrogenesis |
53 |
2052 |
P
|
MTR003 |
Mitral Valve Stenosis |
53 |
2053 |
P
|
JNC001 |
Junctional Epidermolysis Bullosa |
53 |
2054 |
|
MLT135 |
Multiple Sulfatase Deficiency |
53 |
2055 |
|
SCH071 |
Schaaf-Yang Syndrome |
53 |
2056 |
|
BRN003 |
Branchiooculofacial Syndrome |
53 |
2057 |
c
|
MYS051 |
Myasthenic Syndrome, Congenital, 5 |
53 |
2058 |
|
CTS003 |
Coats Disease |
53 |
2059 |
|
STV003 |
Stuve-Wiedemann Syndrome |
52 |
2060 |
P
|
LNR013 |
Linear Skin Defects with Multiple Congenital Anomalies 1 |
52 |
2061 |
|
LYM029 |
Lymphedema-Distichiasis Syndrome |
52 |
2062 |
c
|
LKD019 |
Leukodystrophy, Hypomyelinating, 6 |
52 |
2063 |
|
ATH001 |
Athabaskan Brainstem Dysgenesis Syndrome |
52 |
2064 |
P
|
PTS002 |
Ptosis |
52 |
2065 |
c
|
ICH069 |
Ichthyosis, Congenital, Autosomal Recessive 4b |
52 |
2066 |
|
OST032 |
Osteofibrous Dysplasia |
52 |
2067 |
c
|
USH035 |
Usher Syndrome Type 2 |
52 |
2068 |
P
|
SLV027 |
Silver-Russell Syndrome 1 |
52 |
2069 |
P
|
CHR640 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
51 |
2070 |
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
51 |
2071 |
|
MLC004 |
Mulchandani-Bhoj-Conlin Syndrome |
51 |
2072 |
P
|
PRT042 |
Parietal Foramina |
51 |
2073 |
P
|
ECT100 |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 |
51 |
2074 |
|
CNN011 |
Cenani-Lenz Syndactyly Syndrome |
51 |
2075 |
P
|
OTS014 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
51 |
2076 |
P
|
HYP040 |
Hypospadias |
51 |
2077 |
|
INT276 |
Interatrial Communication |
51 |
2078 |
|
KPS002 |
Kaposiform Hemangioendothelioma |
50 |
2079 |
|
ASP004 |
Asphyxia Neonatorum |
50 |
2080 |
c
|
ATS239 |
Autosomal Recessive Hypophosphatemic Rickets |
50 |
2081 |
|
MRS004 |
Marshall-Smith Syndrome |
50 |
2082 |
c
|
ACH042 |
Achondrogenesis, Type Ib |
50 |
2083 |
|
PLM041 |
Pulmonary Valve Stenosis |
50 |
2084 |
c
|
RBN018 |
Robinow Syndrome, Autosomal Dominant 1 |
50 |
2085 |
|
CLL036 |
Culler-Jones Syndrome |
49 |
2086 |
|
CRD002 |
Cri-Du-Chat Syndrome |
49 |
2087 |
|
ACR058 |
Acrofacial Dysostosis 1, Nager Type |
49 |
2088 |
c
|
LYS017 |
Loeys-Dietz Syndrome 4 |
49 |
2089 |
|
BRT001 |
Bart-Pumphrey Syndrome |
49 |
2090 |
|
JCK001 |
Jackson-Weiss Syndrome |
49 |
2091 |
c
|
OPT050 |
Opitz Gbbb Syndrome, Type Ii |
49 |
2092 |
|
HMM003 |
Hemimegalencephaly |
48 |
2093 |
c
|
LKD010 |
Leukodystrophy, Hypomyelinating, 2 |
48 |
2094 |
|
DBW001 |
Dubowitz Syndrome |
48 |
2095 |
|
GLC106 |
Glucocorticoid Resistance, Generalized |
48 |
2096 |
|
HLS003 |
Helsmoortel-Van Der Aa Syndrome |
48 |
2097 |
|
ECT026 |
Ectopic Pregnancy |
48 |
2098 |
c
|
SHR063 |
Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly |
48 |
2099 |
c
|
TRN032 |
Transient Neonatal Diabetes Mellitus |
47 |
2100 |
|
MYP151 |
Myopathy, Congenital, Bailey-Bloch |
47 |
2101 |
P
|
GND004 |
Gonadal Dysgenesis |
47 |
2102 |
|
MLY008 |
Molybdenum Cofactor Deficiency, Complementation Group a |
47 |
2103 |
c
|
DVL029 |
Developmental and Epileptic Encephalopathy 2 |
47 |
2104 |
c
|
TBL031 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
47 |
2105 |
c
|
HYP549 |
Hypogonadotropic Hypogonadism 5 with or Without Anosmia |
46 |
2106 |
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
46 |
2107 |
|
HRT030 |
Hartsfield Syndrome |
46 |
2108 |
c
|
HYP513 |
Hypogonadotropic Hypogonadism 1 with or Without Anosmia |
46 |
2109 |
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
46 |
2110 |
|
CRY032 |
Carey-Fineman-Ziter Syndrome |
46 |
2111 |
P
|
HYP776 |
Hyperparathyroidism, Neonatal Severe |
46 |
2112 |
P
|
CRC039 |
Coarctation of Aorta |
46 |
2113 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
46 |
2114 |
|
EHL034 |
Ehlers-Danlos Syndrome, Hypermobility Type |
46 |
2115 |
|
TBH001 |
Tibia, Hypoplasia or Aplasia of, with Polydactyly |
46 |
2116 |
|
TTT001 |
Tatton-Brown-Rahman Syndrome |
46 |
2117 |
P
|
OCY003 |
Oocyte Maturation Defect 1 |
46 |
2118 |
P
|
KRN004 |
Kernicterus |
46 |
2119 |
c
|
FNC028 |
Fanconi Anemia, Complementation Group L |
46 |
2120 |
|
ANK017 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate |
46 |
2121 |
|
PRG071 |
Progressive Pseudorheumatoid Dysplasia |
45 |
2122 |
|
BRN062 |
Burn-Mckeown Syndrome |
45 |
2123 |
c
|
FBR029 |
Fibrochondrogenesis 1 |
45 |
2124 |
P
|
MGL013 |
Megalencephaly |
45 |
2125 |
c
|
DFN133 |
Deafness, Autosomal Recessive 9 |
45 |
2126 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
45 |
2127 |
|
JLL001 |
Jalili Syndrome |
45 |
2128 |
c
|
MLT127 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
45 |
2129 |
c
|
ATS282 |
Autosomal Recessive Malignant Osteopetrosis |
45 |
2130 |
c
|
ART147 |
Arthrogryposis, Distal, Type 7 |
45 |
2131 |
c
|
JBR035 |
Joubert Syndrome 24 |
45 |
2132 |
|
BNB002 |
Bainbridge-Ropers Syndrome |
45 |
2133 |
|
MCR037 |
Macroglossia |
44 |
2134 |
|
MRG013 |
Mirage Syndrome |
44 |
2135 |
|
CHN057 |
Chondrodysplasia, Grebe Type |
44 |
2136 |
|
MCR103 |
Microtia |
44 |
2137 |
P
|
MLT072 |
Multiple Synostoses Syndrome |
|