DISEASES

Disease-gene associations mined from literature

Human genes for syndromic X-linked intellectual disability Najm type

Syndromic X-linked intellectual disability Najm type [DOID:0060807]

A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.

Synonyms:  syndromic X-linked intellectual disability Najm type,  DOID:0060807,  syndromic Xlinked intellectual disability Najm type,  syndromic X-linked intellectual disability Najm types,  mental retardation and microcephaly with pontine and cerebellar hypoplasia ...