Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0001510) Growth delay 295 / 7739
3
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
4
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
5
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
6
 (HPO:0001107) Ocular albinism Occasional [Orphanet] 40 / 7739
7
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
8
 (HPO:0005599) Hypopigmentation of hair Occasional [Orphanet] 38 / 7739
9
 (HPO:0001257) Spasticity 251 / 7739
10
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
11
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
12
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
13
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
14
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
15
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
16
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
17
 (HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
18
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
19
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
20
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
21
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
22
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
23
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
24
 (HPO:0005561) Abnormality of bone marrow cell morphology Occasional [Orphanet] 11 / 7739
25
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
26
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
27
 (HPO:0002071) Abnormality of extrapyramidal motor function Frequent [Orphanet] 76 / 7739
28
 (HPO:0007256) Abnormal pyramidal signs Frequent [Orphanet] 116 / 7739
29
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
30
 (HPO:0000071) Ureteral stenosis Occasional [Orphanet] 9 / 7739
31
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
33
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
34
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
35
 (HPO:0001249) Intellectual disability 1089 / 7739
36
 (HPO:0000492) Abnormality of the eyelid Frequent [Orphanet] 41 / 7739
37
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
38
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
39
 (HPO:0002218) Silver-gray hair 6 / 7739
40
 (HPO:0002305) Athetosis 31 / 7739
41
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
42
 (HPO:0004305) Involuntary movements Occasional [Orphanet] 50 / 7739
43
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
44
 (HPO:0011039) Abnormality of the helix Occasional [Orphanet] 33 / 7739
45
 (OMIM) Ocular anomalies 1 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
47
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
48
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
49
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
50
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739