|
1
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
6
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
|
7
|
(HPO:0004326)
|
Cachexia |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
8
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
11
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
12
|
(OMIM)
|
Delayed hair growth |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
14
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|