Early-onset partial cataract

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Early-onset partial cataract

ORPHA:98992Clinical 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 reported in subtypes

BFSP2CHMP4BCRYAACRYABCRYBA1CRYBA2CRYBB1CRYBB2CRYBB3CRYGBCRYGCCRYGDEPHA2GJA3GJA8LEMD2MAFMIPPANK4PITX3UNC45BVIM

Orphanet records these genes on 6 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

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 0020377OMIM 115660OMIM 115800OMIM 116300OMIM 116400OMIM 601202OMIM 605728OMIM 607304OMIM 609376OMIM 610019OMIM 613763OMIM 614422UMLS C5681643

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.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.