Human genes for microcephalic osteodysplastic primordial dwarfism type I
Microcephalic osteodysplastic primordial dwarfism type I [DOID:0060608]
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.
Synonyms: microcephalic osteodysplastic primordial dwarfism type I, DOID:0060608, microcephalic osteodysplastic primordial dwarfism type Is, Taybi-Linder syndrome, brachymelic primordial dwarfism ...