|
1
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
2
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
3
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
4
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
5
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
6
|
(HPO:0000422)
|
Abnormality of the nasal bridge |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
10
|
(HPO:0002269)
|
Abnormality of neuronal migration |
|
|
|
|
10 / 7739
|
|
11
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0011398)
|
Central hypotonia |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|