neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
MONDO:0030046Mondo
Findings
No curated finding names neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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 visual fixationHPOHP:0025404
- 1 of 1 reported patient · Neonatal onset
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Breech presentationHPOHP:0001623
- 1 of 1 reported patient
- Developmental stagnationHPOHP:0007281
- 1 of 1 reported patient · Infantile onset
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- Focal motor seizureHPOHP:0011153
- 1 of 1 reported patient
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient · Infantile onset
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
Show the remaining 7
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Myoclonic seizureHPOHP:0032794
- 1 of 1 reported patient · Infantile onset
- Optic nerve hypoplasiaHPOHP:0000609
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- Profound global developmental delayHPOHP:0012736
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 1 of 1 reported patient
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.
- PTPN23HGNC:14406
- Definitive · G2P · Autosomal recessive · 2026
- 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 and structural brain anomalies with or without seizures and spasticity
- Also called
- NEDBASS