neurodevelopmental disorder with cerebellar hypoplasia and spasticity
MONDO:0032818Mondo
Findings
No curated finding names neurodevelopmental disorder with cerebellar hypoplasia and spasticity 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
13 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.
- Absent speechHPOHP:0001344
- 3 of 3 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Inability to walkHPOHP:0002540
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Overlapping toeHPOHP:0001845
- 3 of 3 reported patients
- Periventricular nodular heterotopiaHPOHP:0032388
- 3 of 3 reported patients
- Prominent glabellaHPOHP:0002057
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Spastic paraplegiaHPOHP:0001258
- 3 of 3 reported patients
- HypertelorismHPOHP:0000316
- 2 of 3 reported patients
Show the remaining 1
- Optic atrophyHPOHP:0000648
- 2 of 3 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.
- INTS8HGNC:26048
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · PanelApp Australia · Autosomal recessive · 2025