Congenital cataract microcornea

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Congenital cataract microcornea with corneal opacity

ORPHA:289499Malformation syndrome

Also called CCMCO

What it is

A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Malformation syndrome

Genes

ATOH7Disease-causing germline mutation(s)
PXDNDisease-causing germline mutation(s) (loss of function)

ICD-10 codes

Q12.0filed under a broader ICD-10 category — shared with 12 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

MONDO 0010015OMIM 269400UMLS C5779991

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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