/congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Rare Disease

MONDO:0013760

Also Known As

congenital ichthyosis-intellectual disability-spastic tetraplegia syndromeISQMRichthyosis, spastic quadriplegia, and intellectual disabilityichthyosis, spastic quadriplegia, and mental retardation

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

ELOVL4 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

Related Diseases

familial apolipoprotein C-II deficiency

MONDO:0008810

Rare

sitosterolemia

MONDO:0008863

Rare

Sengers syndrome

MONDO:0008922

Rare

cerebrotendinous xanthomatosis

MONDO:0008948

Rare

rhizomelic chondrodysplasia punctata type 1

MONDO:0008972

Rare

apparent mineralocorticoid excess

MONDO:0009025

Rare

← Back to All Diseases

congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases