syndromic X-linked intellectual disability Siderius type

Term ID

DOID:0060812

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. (2)

References

• MESH:C537333
• OMIM:300263
• ORDO:85287
• UMLS_CUI:C1846055

Ontology

Human Disease   ( DOID:0060812 )