Hamel cerebro-palato-cardiac syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 93946
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Renpenning syndrome
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
3
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
4
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
5
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
6
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
7
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
8
 (HPO:0001631) Atria septal defect Very frequent [Orphanet] 274 / 7739
9
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
10
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: