neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
MONDO:0032816Mondo
Findings
No curated finding names neurodevelopmental disorder with ataxia, hypotonia, and microcephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
32 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.
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- SpasticityHPOHP:0001257
- 7 of 8 reported patients
- Motor delayHPOHP:0001270
- 6 of 8 reported patients
- Bimanual synkinesiaHPOHP:0001335
- 3 of 8 reported patients
- Coarse facial featuresHPOHP:0000280
- 3 of 8 reported patients
- SeizureHPOHP:0001250
- 3 of 8 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 6 reported patients
- Dry hairHPOHP:0011359
- 2 of 8 reported patients
- Short 5th metacarpalHPOHP:0010047
- 2 of 8 reported patients
- Split handHPOHP:0001171
- 2 of 8 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 1 of 6 reported patients
Show the remaining 20
- 2-4 toe cutaneous syndactylyHPOHP:0005768
- 1 of 8 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 8 reported patients
- EpicanthusHPOHP:0000286
- 1 of 8 reported patients
- Head-bangingHPOHP:0012168
- 1 of 8 reported patients
- HypothyroidismHPOHP:0000821
- 1 of 8 reported patients
- Intrinsic hand muscle atrophyHPOHP:0008954
- 1 of 8 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.
- SVBPHGNC:29204
- Strong · PanelApp Australia · Autosomal recessive · 2025