OBO ID: DOID:0060608 |
Term Name: | microcephalic osteodysplastic primordial dwarfism type I | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0060608 ) |
OTHER microcephalic osteodysplastic primordial dwarfism type I PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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RNU4ATAC | Microcephalic osteodysplastic primordial dwarfism, type I |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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