Symptom Information: Sort according to HPO 

1
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
2
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
3
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
4
 (HPO:0002974) Radioulnar synostosis Very frequent [Orphanet] 52 / 7739
5
 (HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
6
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
7
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
8
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
9
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
10
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
11
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
12
 (HPO:0000448) Prominent nose 56 / 7739
13
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
16
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
17
 (HPO:0000276) Long face 109 / 7739
18
 (HPO:0001290) Generalized hypotonia 51 / 7739
19
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
20
 (HPO:0003083) Dislocated radial head 35 / 7739
21
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
22
 (OMIM) Long narrow face 11 / 7739
23
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
24
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
25
 (HPO:0003011) Abnormality of the musculature Very frequent [Orphanet] 47 / 7739
26
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739