Rare genetic neuromuscular disorder

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Rare genetic neuromuscular disorder with ocular motility/alignment anomaly

ORPHA:522522Category

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

ABCD3DMDGIPC1HTTLIG3LRP12LTBP4MGME1MT-ATP8MT-TL1MYH2NOTCH2NLCNUTM2B-AS1PABPN1POLGRILPL1RNASEH1RRM2BSLC2A3TYMP

Orphanet records these genes on 10 more specific entries under this disorder, not on this entry itself:

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyChildhood-onset autosomal recessive myopathy with external ophthalmoplegiaDuchenne muscular dystrophyHuntington diseaseJuvenile Huntington diseaseKearns-Sayre syndromeMitochondrial neurogastrointestinal encephalomyopathyOculopharyngeal muscular dystrophyOculopharyngodistal myopathyProgressive external ophthalmoplegia-myopathy-emaciation syndrome

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

UMLS C5681428

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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