|
1
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
4
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
5
|
(HPO:0100022)
|
Abnormality of movement |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
6
|
(HPO:0007587)
|
Numerous pigmented freckles |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
10
|
(HPO:0007676)
|
Hypoplasia of the iris |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0100018)
|
Nuclear cataract |
|
|
|
|
14 / 7739
|
|
13
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
14
|
(OMIM)
|
Ocular abnormalities |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0000315)
|
Abnormality of the orbital region |
|
|
|
|
18 / 7739
|
|
19
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|