Total early-onset cataract

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Total early-onset cataract

ORPHA:98994Clinical 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
Classified as
Clinical subtype

Genes

AGKDisease-causing germline mutation(s)
CRYAADisease-causing germline mutation(s)
CRYBB2Disease-causing germline mutation(s)
CRYGBDisease-causing germline mutation(s)
DNMBPDisease-causing germline mutation(s) (loss of function)
EPHA2Disease-causing germline mutation(s)
FYCO1Disease-causing germline mutation(s)
GCNT2Disease-causing germline mutation(s)
GJA8Disease-causing germline mutation(s)
HSF4Disease-causing germline mutation(s)
LEMD2Disease-causing germline mutation(s)
LIM2Disease-causing germline mutation(s)
LSSDisease-causing germline mutation(s)
MIPDisease-causing germline mutation(s)
PGRMC1Disease-causing germline mutation(s)
SIPA1L3Disease-causing germline mutation(s)
NHSCandidate gene tested

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

GARD 1159MESH C535341MONDO 0021548OMIM 601547OMIM 616509OMIM 618415UMLS C0266539

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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