Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
5
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
6
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
7
 (HPO:0000926) Platyspondyly Occasional [Orphanet] 150 / 7739
8
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
9
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
10
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
11
 (HPO:0002999) Patellar dislocation Occasional [Orphanet] 46 / 7739
12
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
13
 (HPO:0001820) Leukonychia Occasional [Orphanet] 18 / 7739
14
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
15
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
16
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
17
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
18
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
19
 (HPO:0001256) Intellectual disability, mild 141 / 7739
20
 (HPO:0001518) Small for gestational age 107 / 7739
21
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
22
 (HPO:0003177) Squared iliac bones 7 / 7739
23
 (HPO:0003182) Shallow acetabular fossae 10 / 7739
24
 (HPO:0010582) Irregular epiphyses 19 / 7739
25
 (HPO:0010585) Small epiphyses 16 / 7739
26
 (OMIM) Flattened acetabulae 1 / 7739
27
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739