|OBO ID: DOID:0060608|
|Term Name:||microcephalic osteodysplastic primordial dwarfism type I||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0060608)|
|is a type of:||
OTHER microcephalic osteodysplastic primordial dwarfism type I PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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