OBO ID: DOID:0060812
Term Name: syndromic X-linked intellectual disability Siderius type Search Ontology:
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)
OTHER syndromic X-linked intellectual disability Siderius type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PHF8 Intellectual developmental disorder, X-linked, syndromic, Siderius type 300263
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None