HYPERTELORISM AND TETRALOGY OF FALLOT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 239711
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0000286) Epicanthus 371 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000581) Blepharophimosis 197 / 7739
5
 (HPO:0005280) Depressed nasal bridge 381 / 7739
6
 (HPO:0000343) Long philtrum 262 / 7739
7
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
8
 (HPO:0000369) Low-set ears 372 / 7739
9
 (HPO:0001256) Intellectual disability, mild 141 / 7739
10
 (HPO:0001762) Talipes equinovarus 309 / 7739
11
 (HPO:0003298) Spina bifida occulta 67 / 7739
12
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
13
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
14
 (HPO:0005134) Absence of the pulmonary valve 2 / 7739
15
 (HPO:0011659) Tetralogy of Fallot with absent pulmonary valve 1 / 7739
16
 (HPO:0001655) Patent foramen ovale 31 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: