Autosomal recessive metabolic cerebellar…

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Autosomal recessive metabolic cerebellar ataxia

ORPHA:98096Category

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

Inheritance
Autosomal recessive
Classified as
Category

Recorded for the broader condition

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes reported in subtypes

CYP27A1GBA2MTTPPEX1PEX10PEX11BPEX12PEX13PEX14PEX16PEX19PEX2PEX26PEX3PEX5PEX6PEX7PHYHPOLGTTPA

Orphanet records these genes on 11 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.

Cross-references

MONDO 0020044UMLS C5681517

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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