Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060812 )
Relationships
is a type of
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Genes Involved
Zebrafish Models