Symptom Information: Sort according to HPO 

1
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
2
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
3
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
4
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
5
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
6
 (HPO:0001107) Ocular albinism Occasional [Orphanet] 40 / 7739
7
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
8
 (HPO:0001022) Albinism Very frequent [Orphanet] 43 / 7739
9
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
10
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
11
 (HPO:0000613) Photophobia Occasional [Orphanet] 158 / 7739
12
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
13
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
14
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
15
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
16
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
17
 (HPO:0001045) Vitiligo 13 / 7739
18
 (HPO:0001256) Intellectual disability, mild 141 / 7739
19
 (HPO:0002226) White eyebrow 10 / 7739
20
 (HPO:0002227) White eyelashes 11 / 7739
21
 (HPO:0005585) Spotty hyperpigmentation 8 / 7739
22
 (OMIM) White hair with scattered black tufts 1 / 7739
23
 (OMIM) White eyebrows and eyelashes 3 / 7739
24
 (OMIM) Normal iris pigmentation 1 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739