microcephalic osteodysplastic primordial dwarfism type I

Term ID

DOID:0060608

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. (2)

References

• GARD:5120
• ICD10CM:Q87.1
• MESH:C537577
• MIM:210710
• ORDO:2636

Ontology

Human Disease   ( DOID:0060608 )