microcephalic osteodysplastic primordial dwarfism type I
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.
MONDO:0000060
microcephalic osteodysplastic primordial dwarfism
is_a
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0016994
microcephalic osteodysplastic primordial dwarfism types I and III
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
MONDO:0100558
RNU4ATAC spectrum disorder
is_a
MOPD 1
exact
MOPD1
exact
Taybi-Linder syndrome
exact
brachymelic primordial dwarfism
exact
cephaloskeletal dysplasia
exact
low-birth-weight dwarfism with skeletal dysplasia
exact
microcephalic osteodysplastic primordial dwarfism, type 1
exact
microcephalic osteodysplastic primordial dwarfism, type I
exact
osteodysplastic primordial dwarfism, type 1
exact