Spinocerebellar ataxia type 29

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Spinocerebellar ataxia type 29

ORPHA:208513Disease

Also called Congenital nonprogressive spinocerebellar ataxia · SCA29

What it is

An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Disease

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

ITPR1Disease-causing germline mutation(s)

ICD-10 codes

G11.0filed under a broader ICD-10 category — shared with 8 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.

Cross-references

GARD 10480MESH C537206MONDO 0007298OMIM 117360UMLS C1861732

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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