Microcephalic osteodysplastic primordial dwarfism, type 1 [Supplementary Concept]
A severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including INTELLECTUAL DISABILITY, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood. Mutations in the RNU4ATAC gene have been identified. OMIM: 210710
Date introduced: August 25, 2010
MeSH Unique ID: C537577
Heading Mapped to:
Entry Terms:
- Mopd 1
- MopdI
- Mopd I
- Mopd
- Cephaloskeletal dysplasia
- Taybi Linder syndrome
- Low-birth-weight dwarfism with skeletal dysplasia
- Osteodysplastic primordial dwarfism, type 1
- Brachymelic primordial dwarfism
- Microcephalic Osteodysplastic Primordial Dwarfism, Type I
- Osteodysplastic Primordial Dwarfism, Type I
- Mopd1
- Taybi-Linder Syndrome