Symptom Information: Sort according to HPO 

1
 (HPO:0001508) Failure to thrive 454 / 7739
2
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
3
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
4
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
5
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
6
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
7
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
8
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
9
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
10
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
11
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
12
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0001636) Tetralogy of Fallot Very frequent [Orphanet] 104 / 7739
15
 (HPO:0000271) Abnormality of the face 108 / 7739
16
 (HPO:0001629) Ventricular septal defect 316 / 7739
17
 (HPO:0001642) Pulmonic stenosis 89 / 7739
18
 (HPO:0001719) Double outlet right ventricle 12 / 7739
19
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
20
 (OMIM) Subaortic ventricular septal defect 1 / 7739
21
 (OMIM) Minor facial anomalies 1 / 7739
22
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
23
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
24
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
26
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739