1
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
3
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
4
|
(HPO:0000356)
|
Abnormality of the outer ear |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
5
|
(HPO:0000625)
|
Cleft eyelid |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
6
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
7
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
8
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
9
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
10
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
11
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
12
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
13
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
14
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
15
|
(HPO:0001305)
|
Dandy-Walker malformation |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
16
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
17
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
18
|
(HPO:0000154)
|
Wide mouth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
19
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
20
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
21
|
(HPO:0001362)
|
Calvarial skull defect |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
22
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
23
|
(HPO:0002006)
|
Facial cleft |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
24
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
25
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
26
|
(HPO:0002536)
|
Abnormal cortical gyration |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
27
|
(HPO:0001053)
|
Hypopigmented skin patches |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
28
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
29
|
(HPO:0011305)
|
Partial absence of toe |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
30
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
31
|
(HPO:0000384)
|
Preauricular skin tag |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
32
|
(HPO:0100777)
|
Exostoses |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
33
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
34
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
35
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
36
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
37
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
38
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
39
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
40
|
(HPO:0001144)
|
Orbital cyst |
|
|
|
|
4 / 7739
|
41
|
(HPO:0001231)
|
Abnormality of the fingernails |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
42
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
43
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
44
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
45
|
(HPO:0003191)
|
Cleft ala nasi |
|
|
|
|
8 / 7739
|
46
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
47
|
(HPO:0007115)
|
Orbital encephalocele |
|
|
|
|
1 / 7739
|
48
|
(HPO:0007510)
|
Focal dermal aplasia/hypoplasia |
|
|
|
|
1 / 7739
|
49
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
50
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
51
|
(OMIM)
|
Dermoids |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Rib dysplasia |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Skin appendages (periorbital, face, thorax, rarely on trunk) |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Punch-like skin defects |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Postauricular crescent-shaped hypoplastic skin lesion |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Focal alopecia |
|
|
|
|
1 / 7739
|
57
|
(MedDRA:10061445)
|
Cerebral cyst |
|
|
|
|
2 / 7739
|
58
|
(HPO:0004426)
|
Abnormality of the cheek |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
59
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
60
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
61
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
62
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|