neurodevelopmental disorder with seizures and brain atrophy
MONDO:0033658Mondo
Findings
No curated finding names neurodevelopmental disorder with seizures and brain atrophy 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 · Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 4 of 8 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 8 reported patients
- RetrognathiaHPOHP:0000278
- 2 of 8 reported patients
- High palateHPOHP:0000218
- 1 of 8 reported patients
- Long philtrumHPOHP:0000343
- 1 of 8 reported patients
- Low-set earsHPOHP:0000369
- 1 of 8 reported patients
- Rocker bottom footHPOHP:0001838
- 1 of 8 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Cerebral cortical atrophyHPOHP:0002120
- Decreased thalamic volumeHPOHP:0012695
- Focal-onset seizureHPOHP:0007359
Show the remaining 4
- Hypoplasia of the brainstemHPOHP:0002365
- Hypoplasia of the corpus callosumHPOHP:0002079
- Myoclonic seizureHPOHP:0032794
- Simplified gyral patternHPOHP:0009879
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.
- EXOC7HGNC:23214
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with seizures and brain atrophy
- Also called
- NEDSEBA