Microcephalic osteodysplastic primordial dwarfism type I
Microcephalic osteodysplastic primordial dwarfism type I
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.
Also known as brachymelic primordial dwarfism, cephaloskeletal dysplasia, low-birth-weight dwarfism with skeletal dysplasia, microcephalic osteodysplastic primordial dwarfism, type 1, microcephalic osteodysplastic primordial dwarfism, type I, MOPD 1, MOPD1, osteodysplastic primordial dwarfism, type 1, Taybi-Linder syndrome — per MONDO