neurodegeneration, childhood-onset, with cerebellar atrophy
MONDO:0032650Mondo
Findings
No curated finding names neurodegeneration, childhood-onset, with cerebellar atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 5 of 5 reported patients
- Cerebellar atrophyHPOHP:0001272
- 13 of 13 reported patients
- Global developmental delayHPOHP:0001263
- 13 of 13 reported patients
- HypotoniaHPOHP:0001252
- 13 of 13 reported patients
- Motor delayHPOHP:0001270
- 13 of 13 reported patients
- Muscle weaknessHPOHP:0001324
- 13 of 13 reported patients
- Motor axonal neuropathyHPOHP:0007002
- 5 of 6 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 2 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 8 of 13 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 13 reported patients
- StrabismusHPOHP:0000486
- 8 of 13 reported patients
- Caesarean sectionHPOHP:0011410
- 7 of 13 reported patients
Show the remaining 17
- Skeletal muscle atrophyHPOHP:0003202
- 6 of 13 reported patients
- SpasticityHPOHP:0001257
- 6 of 13 reported patients
- Absent speechHPOHP:0001344
- 5 of 13 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 5 of 13 reported patients
- TetraparesisHPOHP:0002273
- 5 of 13 reported patients
- DystoniaHPOHP:0001332
- 4 of 13 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AGTPBP1HGNC:17258
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: neurodegeneration, childhood-onset, with cerebellar atrophy
- Also called
- CONDCA