Version: 8.0.0
Date: Tue Jan 28 2025
isolated microphthalmia 2
DOID:0060839
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

isolated microphthalmia 2

Definition
An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24.
Synonyms
  • MCOP2
Cross References
Parent Terms
Child Terms
None
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