OBO ID: DOID:0060608
Term Name: microcephalic osteodysplastic primordial dwarfism type I Search Ontology:
Synonyms:
  • brachymelic primordial dwarfism
  • cephaloskeletal dysplasia
  • low-birth-weight dwarfism with skeletal dysplasia
  • osteodysplastic primordial dwarfism type I
  • Taybi-Linder syndrome
Definition: A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. (2)
References:
Ontology: Human Disease   (DOID:0060608)
OTHER microcephalic osteodysplastic primordial dwarfism type I PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RNU4ATAC Microcephalic osteodysplastic primordial dwarfism, type I 210710
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None