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Congenital ichthyosis - intellectual deficit - spastic quadriplegia
1 OMIM reference -
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
Stargardt disease
Synonym(s):
- Congenital ichthyosis - intellectual deficit - spastic tetraplegia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ELOVL4 Q9GZR5605512
No signs/symptoms info available.