HHHH SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: HEREDITARY HEMIHYPOTROPHY HEMIPARESIS HEMIATHETOSIS SYNDROME
Number of Symptoms 4
OrphanetNr:
OMIM Id: 306960
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001269) Hemiparesis 51 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0100556) Hemiatrophy 2 / 7739
4
(OMIM) Hemiathetosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Haar and Dyken (1977) described a family with many affected members in a pattern consistent with X-linked recessive inheritance with variable expression in heterozygous females. The disorder consisted of congenital left hemiparesis with subsequent development of left hemihypoplasia ...