neurodevelopmental disorder with hypotonia, seizures, and absent language
MONDO:0014995Mondo
Findings
No curated finding names neurodevelopmental disorder with hypotonia, seizures, and absent language yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
30 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 cerebral white matter morphologyHPOHP:0002500
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- DyskinesiaHPOHP:0100660
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 7 of 7 reported patients
- Generalized-onset seizureHPOHP:0002197
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 1 reported patient
Show the remaining 18
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 6 of 7 reported patients · Infantile onset
- Autistic behaviorHPOHP:0000729
- 2 of 3 reported patients
- Nasogastric tube feedingHPOHP:0040288
- 4 of 7 reported patients
- Recurrent hand flappingHPOHP:0100023
- 4 of 7 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 3 of 7 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.
- HECW2HGNC:29853
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: neurodevelopmental disorder with hypotonia, seizures, and absent language
- Also called
- NDHSALneurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL