neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
MONDO:0859152Mondo
Findings
No curated finding names neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 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
10 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.
- Cerebellar atrophyHPOHP:0001272
- 30 of 30 reported patients
- Global developmental delayHPOHP:0001263
- 30 of 30 reported patients
- Motor delayHPOHP:0001270
- 30 of 30 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 26 of 27 reported patients
- HypotoniaHPOHP:0001252
- 26 of 29 reported patients
- AtaxiaHPOHP:0001251
- 19 of 27 reported patients
- Brisk reflexesHPOHP:0001348
- 15 of 25 reported patients
- Appendicular hypotoniaHPOHP:0012389
- 13 of 29 reported patients
- Inability to walkHPOHP:0002540
- 8 of 27 reported patients
- AreflexiaHPOHP:0001284
- 4 of 25 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.
- GEMIN5HGNC:20043
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
- Also called
- GEMIN5 disorderGEMIN5-related neurodevelopmental disorderNEDCAM