OBO ID: DOID:0050764
Term Name: Armfield syndrome Search Ontology:
Synonyms:
  • Armfield X-linked mental retardation syndrome
  • mental retardation syndrome, X-linked, Armfield type
  • MRXSA
  • syndromic X-linked mental retardation Armfield type
  • X-linked intellectual disability, Armfield type
Definition: A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. https://www.ncbi.nlm.nih.gov/pubmed/10398235
References:
Ontology: Human Disease   ( DOID:0050764 )
OTHER Armfield syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FAM50A Intellectual developmental disorder, X-linked syndromic, Armfield type 300261
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None