DISEASES

Disease-gene associations mined from literature

Human genes for microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism type II [DOID:0060609]

A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.

Synonyms:  microcephalic osteodysplastic primordial dwarfism type II,  DOID:0060609,  microcephalic osteodysplastic primordial dwarfism type IIs,  Majewski osteodysplastic primordial dwarfism type II,  osteodysplastic primordial dwarfism type II ...