Term Name:	microcephalic osteodysplastic primordial dwarfism type I
Synonyms:	brachymelic primordial dwarfism, cephaloskeletal dysplasia, low-birth-weight dwarfism with skeletal dysplasia, osteodysplastic primordial dwarfism type I, Taybi-Linder syndrome
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.
Ontology:	Human Disease [DOID:0060608]   ( DOID:0060608 )