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DOID:0060608 - microcephalic osteodysplastic primordial dwarfism type I
Disease Ontology Definition:A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.
Synonyms: Taybi-Linder syndrome, brachymelic primordial dwarfism, cephaloskeletal dysplasia, low-birth-weight dwarfism with skeletal dysplasia, osteodysplastic primordial dwarfism type I,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteochondrodysplasia (is_a)