Symptom Information: Sort according to HPO 

1
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
4
 (HPO:0003155) Elevated alkaline phosphatase rare [HPO:skoehler] 52 / 7739
5
 (OMIM) less than 3rd centile (in one patient) 1 / 7739
6
 (OMIM) Osteosclerosis of the anterior and posterior ribs 1 / 7739
7
 (HPO:0100923) Clavicular sclerosis 3 / 7739
8
 (OMIM) Osteosclerosis of the scapulae 1 / 7739
9
 (OMIM) No osteosclerosis 1 / 7739
10
 (OMIM) Osteosclerosis of vertebrae 1 / 7739
11
 (OMIM) Osteosclerosis of the iliac crests 1 / 7739
12
 (OMIM) Osteosclerosis of the ischium 1 / 7739
13
 (OMIM) Osteosclerosis of the pubic bone 1 / 7739
14
 (OMIM) Osteosclerosis of the metaphyses of the long bones of the upper and lower extremities 1 / 7739
15
 (OMIM) Osteopenic shafts of long bones 1 / 7739
16
 (OMIM) Osteosclerosis in short tubular bones of the hands 1 / 7739
17
 (OMIM) Osteosclerosis of the talus 1 / 7739
18
 (OMIM) Osteosclerosis of the calcaneus 1 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739
20
 (HPO:0001324) Muscle weakness 859 / 7739
21
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
24
 (OMIM) Spastic paraplegia, later onset (in one patient) 1 / 7739
25
 (OMIM) Elevated AST (aspartate aminotransferase) and CPK (creatine phosphokinase) 1 / 7739
26
 (OMIM) Elevated urinary pyridinoline and deoxypyridinoline 1 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739