|
1
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
3
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0007930)
|
Prominent epicanthal folds |
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0008935)
|
Generalized neonatal hypotonia |
|
|
|
|
9 / 7739
|
|
8
|
(HPO:0010655)
|
Epiphyseal stippling |
|
|
|
|
32 / 7739
|
|
9
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|