OBO ID: DOID:0060800
Term Name: syndromic X-linked intellectual disability 5 Search Ontology:
Synonyms:
  • Fried syndrome
  • Mental retardation, X-linked syndromic 5
  • MRX59
  • MRXS21
  • Pettigrew syndrome
  • syndromic X-linked mental retardation 21
  • syndromic X-linked mental retardation Fried type
  • X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
  • X-linked mental retardation 59
  • X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
Definition: A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (2)
References:
Ontology: Human Disease   ( DOID:0060800 )
OTHER syndromic X-linked intellectual disability 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AP1S2 Pettigrew syndrome 304340
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None