Congenital myopathy

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Congenital myopathy

ORPHA:97245Category

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

Prevalence
1-9 / 100 000 (United States)
Classified as
Category

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

ACTA1CASQ1CCDC174CNTN1DNM2FHL1HACD1ITGA7MAP3K20MEGF10MYL1MYL2MYMKMYMXMYO18BMYPNORAI1RYR1SELENONSTAC3STIM1TPM2TPM3

Orphanet records these genes on 17 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

G71.2ICD-10 names this disease exactly — shared with 56 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.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

GARD 5898MEDDRA 10062547MONDO 0019952UMLS C0270960

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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