Spinal muscular atrophy associated

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Spinal muscular atrophy associated with central nervous system anomaly

ORPHA:207012Clinical group

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
Clinical group

Genes reported in subtypes

AGTPBP1EXOSC3EXOSC8EXOSC9SEPSECSSLC12A6SLC25A46TSEN15TSEN2TSEN34TSEN54VRK1

Orphanet records these genes on 3 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 16131UMLS C5680818

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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