Term Name: syndromic X-linked intellectual disability Siderius type
Synonyms: mental retardation syndrome, X-linked, Siderius type, MRXSSD, Siderius X-linked mental retardation syndrome, Siderius-Hamel syndrome
Definition: 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.
Ontology: Human Disease [DOID:0060812]   ( DOID:0060812 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease