microcephaly, short stature, and limb abnormalities

microcephaly, short stature, and limb abnormalities

http://purl.obolibrary.org/obo/DOID_0081431

An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. [ url:https://pubmed.ncbi.nlm.nih.gov/28191891/ ]

Synonyms: DONSON-related microcephaly-short stature-limb abnormalities spectrum

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MIM:617604
ORDO:572761

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DO_rare_slim

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disease_ontology

DOID:0081431

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Subclass of:

autosomal recessive disease
osteochondrodysplasia
has material basis in some autosomal recessive inheritance
existence starts during some Neonatal onset
existence starts during some Antenatal onset