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Metadata
ID DOID:0111811
Name syndromic microphthalmia 13
Definition A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28.
https://www.ncbi.nlm.nih.gov/pubmed/24993872, https://www.ncbi.nlm.nih.gov/pubmed/4998085
Xrefs

MIM:300915

ORDO:431140

Subsets

DO_rare_slim

Synonyms

colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation [EXACT]

Maine microphthalmos [EXACT]

MCOPS13 [EXACT]

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome [EXACT]

Parent Relationships

is_a syndromic microphthalmia

is_a X-linked monogenic disease

Subclass Logical Relationships

has material basis in some X-linked inheritance

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