neurodevelopmental disorder with progressive spasticity and brain abnormalities
MONDO:0976233Mondo
Findings
No curated finding names neurodevelopmental disorder with progressive spasticity and brain abnormalities 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
HPO, annotations 2026-09-02
Features
78 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.
- Abnormal cerebellum morphologyHPOHP:0001317
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Breech presentationHPOHP:0001623
- 1 of 1 reported patient
- Caesarean sectionHPOHP:0011410
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Cognitive impairmentHPOHP:0100543
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
Show the remaining 66
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Elevated circulating creatinine concentrationHPOHP:0003259
- 1 of 1 reported patient
- Episodic ataxiaHPOHP:0002131
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Horizontal nystagmusHPOHP:0000666
- 2 of 2 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.
- EEFSECHGNC:24614
- Limited · Ambry Genetics · Autosomal recessive · 2025