neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
MONDO:0957791Mondo
Findings
No curated finding names neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor 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
- Infantile onset · Childhood onset
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.
- Cognitive regressionHPOHP:0034332
- 8 of 8 reported patients
- Gait disturbanceHPOHP:0001288
- 10 of 10 reported patients
- Motor regressionHPOHP:0033044
- 8 of 8 reported patients
- Short statureHPOHP:0004322
- 10 of 10 reported patients
- SpasticityHPOHP:0001257
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 9 of 10 reported patients
- DysarthriaHPOHP:0001260
- 8 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 10 reported patients
- DroolingHPOHP:0002307
- 7 of 10 reported patients
- Cerebellar atrophyHPOHP:0001272
- 5 of 8 reported patients
- DystoniaHPOHP:0001332
- 5 of 8 reported patients
- Spastic tetraparesisHPOHP:0001285
- 6 of 10 reported patients
Show the remaining 1
- Cerebral atrophyHPOHP:0002059
- 3 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.
- SNAPC4HGNC:11137
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
- Moderate · Baylor College of Medicine Research Center · Autosomal recessive · 2025