OBO ID: DOID:0060820
Term Name: syndromic X-linked intellectual disability Nascimento type Search Ontology:
Synonyms:
  • mental retardation, X-linked syndromic, Nascimento-type
  • X-linked intellectual disability-nail dystrophy-seizures syndrome
Definition: A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. (2)
References:
Ontology: Human Disease   (DOID:0060820)
OTHER syndromic X-linked intellectual disability Nascimento type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UBE2A Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None