|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
7
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
8
|
(HPO:0001053)
|
Hypopigmented skin patches |
|
|
|
|
80 / 7739
|
|
9
|
(HPO:0001100)
|
Heterochromia iridis |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0001107)
|
Ocular albinism |
rare [HPO:skoehler]
|
|
|
|
40 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
14
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0002216)
|
Premature graying of hair |
|
|
|
|
43 / 7739
|
|
16
|
(HPO:0002226)
|
White eyebrow |
|
|
|
|
10 / 7739
|
|
17
|
(HPO:0002227)
|
White eyelashes |
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
|
|
16 / 7739
|
|
19
|
(HPO:0001089)
|
Iris atrophy |
|
|
|
|
8 / 7739
|
|
20
|
(HPO:0007676)
|
Hypoplasia of the iris |
|
|
|
|
22 / 7739
|
|
21
|
(HPO:0007990)
|
Hypoplastic iris stroma |
|
|
|
|
9 / 7739
|
|
22
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
|
|
|
|
38 / 7739
|
|
23
|
(HPO:0007894)
|
Hypopigmentation of the fundus |
|
|
|
|
14 / 7739
|
|
24
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
25
|
(HPO:0011379)
|
Dilated vestibule of the inner ear |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0011381)
|
Aplasia of the semicircular canal |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0011382)
|
Hypoplasia of the semicircular canal |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Absence of the cochlear nerves (reported in 1 patient) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Bright blue eyes |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Absence of the olfactory bulbs (reported in 1 patient) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Delayed deciduous tooth eruption (reported in 1 patient) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Large central incisors (reported in 1 patient) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Irregularly placed dentition (reported in 1 patient) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Hypoplasia or agenesis of the semicircular canals |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Vestibular malformation |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Dilatation of the vestibule |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0001480)
|
Freckling |
|
|
|
|
13 / 7739
|
|
38
|
(OMIM)
|
A subset of patients have neurologic abnormalities |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Brain hypomyelination |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
41
|
(HPO:0000458)
|
Anosmia |
rare [HPO:skoehler]
|
|
|
|
49 / 7739
|
|
42
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
43
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|