neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
MONDO:0030063Mondo
Findings
No curated finding names neurodevelopmental disorder with seizures, hypotonia, and brain imaging 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
- Death in infancy
HPO, annotations 2026-09-02
Features
32 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.
- Axial hypotoniaHPOHP:0008936
- 8 of 8 reported patients
- Elevated brain choline level by MRSHPOHP:0012706
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 11 of 11 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 8 reported patients
- Reduced brain N-acetyl aspartate level by MRSHPOHP:0012708
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 11 of 11 reported patients · Infantile onset
- Severe global developmental delayHPOHP:0011344
- 11 of 11 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 7 of 8 reported patients
- Interictal epileptiform activityHPOHP:0011182
- 7 of 8 reported patients
- Limb hypertoniaHPOHP:0002509
- 7 of 8 reported patients
- Cerebral atrophyHPOHP:0002059
- 8 of 10 reported patients
- CNS hypomyelinationHPOHP:0003429
- 8 of 10 reported patients
Show the remaining 20
- HyperreflexiaHPOHP:0001347
- 4 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 6 of 11 reported patients
- Recurrent infectionsHPOHP:0002719
- 6 of 11 reported patients
- Status epilepticusHPOHP:0002133
- 4 of 8 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 5 of 11 reported patients · Neonatal onset
- Short statureHPOHP:0004322
- 5 of 11 reported patients
Genes
2 genes
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.
- EPB41L3HGNC:3380
- Strong · PanelApp Australia · Autosomal recessive · 2025
- GRM7HGNC:4599
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- Also called
- NEDSHBAneurodevelopmental disorder with seizures, hypotonia, and brain abnormalities