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microcephalic osteodysplastic primordial dwarfism type II

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description 'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'
Uniprot Description Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008872:  microcephalic osteodysplastic primordial dwarfism type II
GARD:0009844: 
MESH:C565898: 
Orphanet:2637: 
SCTID:254103003: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)