microcephalic osteodysplastic primordial dwarfism type I (DOID:0060608)
Alliance: disease page
Synonyms: brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I; Taybi-Linder syndrome
Alt IDs: OMIM:210710, ICD10CM:Q87.1, MESH:C537577, ORDO:2636
Definition: 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.