|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0003298)
|
Spina bifida occulta |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0000268)
|
Dolichocephaly |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
|
7
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
8
|
(HPO:0001199)
|
Triphalangeal thumb |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0100555)
|
Asymmetric growth |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
10
|
(HPO:0010636)
|
Schizencephaly |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
12
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
13
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
14
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
15
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
16
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
17
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
18
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
20
|
(HPO:0001100)
|
Heterochromia iridis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
21
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
22
|
(HPO:0100026)
|
Arteriovenous malformation |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
23
|
(HPO:0002970)
|
Genu varum |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
24
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
25
|
(HPO:0100789)
|
Torus palatinus |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
|
26
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
27
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
28
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
29
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
30
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
31
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
|
32
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
33
|
(HPO:0002814)
|
Abnormality of the lower limb |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
|
34
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
35
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
36
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
37
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
38
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
39
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
40
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
41
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
42
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
43
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
44
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
45
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
46
|
(HPO:0002281)
|
Gray matter heterotopias |
|
|
|
|
4 / 7739
|
|
47
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
48
|
(HPO:0005593)
|
Macular hypopigmented whorls, streaks, and patches |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0006316)
|
Irregularly spaced teeth |
|
|
|
|
2 / 7739
|
|
50
|
(HPO:0009466)
|
Radial deviation of finger |
Occasional [Orphanet]
|
|
|
|
101 / 7739
|
|
51
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
52
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
53
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
54
|
(OMIM)
|
No inflammatory or bullous skin lesions |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Chromosomal mosaicism in fibroblast and/or peripheral lymphocytes No consistent karyotypic finding |
|
|
|
|
1 / 7739
|
|
56
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
57
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
58
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
59
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
60
|
(HPO:0001428)
|
Somatic mutation |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
61
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
62
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
63
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
64
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
65
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
66
|
(HPO:0001442)
|
Somatic mosaicism |
|
|
|
|
7 / 7739
|
|
67
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|