Early-onset nuclear cataract

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Early-onset nuclear cataract

ORPHA:98991Clinical subtype

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive, X-linked recessive
Classified as
Clinical subtype

Genes

BFSP1Disease-causing germline mutation(s)
CRYAADisease-causing germline mutation(s)
CRYABDisease-causing germline mutation(s)
CRYBA1Disease-causing germline mutation(s)
CRYBA2Disease-causing germline mutation(s)
CRYBB1Disease-causing germline mutation(s)
CRYBB2Disease-causing germline mutation(s)
CRYBB3Disease-causing germline mutation(s)
CRYGCDisease-causing germline mutation(s)
CRYGDDisease-causing germline mutation(s)
EPHA2Disease-causing germline mutation(s)
FYCO1Disease-causing germline mutation(s)
GJA3Disease-causing germline mutation(s)
GJA8Disease-causing germline mutation(s)
MIPDisease-causing germline mutation(s)
NHSDisease-causing germline mutation(s)
UNC45BDisease-causing germline mutation(s)
WFS1Disease-causing germline mutation(s)

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 0020376OMIM 116400OMIM 600881OMIM 607304OMIM 609376OMIM 610019OMIM 611391UMLS C5681644

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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