Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
2
 (HPO:0001080) Biliary tract abnormality Very frequent [Orphanet] 26 / 7739
3
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
4
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
5
 (HPO:0000023) Inguinal hernia 181 / 7739
6
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
7
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
8
 (HPO:0000384) Preauricular skin tag Frequent [Orphanet] 62 / 7739
9
 (HPO:0009796) Branchial cyst Frequent [Orphanet] 32 / 7739
10
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
11
 (HPO:0000952) Jaundice 105 / 7739
12
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
15
 (HPO:0001762) Talipes equinovarus 309 / 7739
16
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
17
 (HPO:0005248) Intrahepatic biliary atresia 6 / 7739
18
 (MedDRA:10023129) Jaundice cholestatic 3 / 7739
19
 (OMIM) Branchial dysplasia 1 / 7739
20
 (OMIM) Auricular meatal atresia 1 / 7739
21
 (OMIM) Interlobular bile duct deficiency 1 / 7739
22
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
23
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
24
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739