Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL ICHTHYOSIS, INTELLECTUAL DISABILITY, SPASTIC QUADRIPLEGIA SYNDROME
C3280856
ELOVL4 Unknown — Disgenet
CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME
352333MONDO:0013760
ELOVL4 Causal
22100072 24571530 33652762
ClinVar GWAS catalog Orphanet