neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
MONDO:0032894Mondo
Findings
No curated finding names neurodevelopmental disorder with epilepsy, spasticity, 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
12 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
- 7 of 7 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 7 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 7 of 7 reported patients
- SeizureHPOHP:0001250
- 7 of 7 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 6 reported patients
- Brain atrophyHPOHP:0012444
- Cerebellar atrophyHPOHP:0001272
- Feeding difficulties in infancyHPOHP:0008872
- Neonatal onset
- Long philtrumHPOHP:0000343
- Narrow foreheadHPOHP:0000341
- ScoliosisHPOHP:0002650
- Spastic tetraparesisHPOHP:0001285
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.
- TRAPPC4HGNC:19943
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019