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Human Disease

microcephalic osteodysplastic primordial dwarfism type I

Term ID
DOID:0060608
Synonyms
  • brachymelic primordial dwarfism
  • cephaloskeletal dysplasia
  • low-birth-weight dwarfism with skeletal dysplasia
  • osteodysplastic primordial dwarfism type I
  • Taybi-Linder syndrome
Definition
An osteochondrodysplasia that is a form of 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models