Symptom Information: Sort according to HPO 

1
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
2
(HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
3
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
(HPO:0001007) Hirsutism 91 / 7739
5
(HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
8
(OMIM) Normal metabolic screening 1 / 7739
9
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
10
(HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739