DISEASES

Disease-gene associations mined from literature

Human genes for syndromic X-linked intellectual disability Siderius type

Syndromic X-linked intellectual disability Siderius type [DOID:0060812]

A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.

Synonyms:  syndromic X-linked intellectual disability Siderius type,  DOID:0060812,  syndromic Xlinked intellectual disability Siderius type,  syndromic X-linked intellectual disability Siderius types,  mental retardation syndrome, X-linked, Siderius type ...