Mitochondrial disease with epilepsy

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Mitochondrial disease with epilepsy

ORPHA:225700Category

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

Classified as
Category

Genes reported in subtypes

EIF2S3FHFOXRED1IARS2LIASLIG3LRPPRCMT-ATP6MT-ATP8MT-CO1MT-CO2MT-CO3MT-ND1MT-ND2MT-ND3MT-ND4MT-ND5MT-ND6MT-RNR1MT-TFMT-THMT-TKMT-TL1MT-TPMT-TQMT-TS1MT-TS2MT-TWNDUFA1NDUFA11NDUFA6NDUFA9NDUFAF1NDUFAF2NDUFAF3NDUFAF4NDUFAF5NDUFAF8NDUFB10NDUFB11NDUFB3NDUFB9NDUFS1NDUFS2NDUFS3NDUFS4NDUFS6NDUFS7NDUFS8NDUFV1NDUFV2NUBPLOGDHPOLGRRM2BSLC25A12TIMMDC1TMEM126BTWNKTYMP

Orphanet records these genes on 15 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 16402UMLS C5680897

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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