neurodevelopmental disorder with seizures and gingival overgrowth
MONDO:0859148Mondo
Findings
No curated finding names neurodevelopmental disorder with seizures and gingival overgrowth 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
- Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- Gingival overgrowthHPOHP:0000212
- 3 of 4 reported patients
- Jaw swellingHPOHP:0030793
- 3 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 3 of 4 reported patients
- Camptodactyly of fingerHPOHP:0100490
- 2 of 4 reported patients
- Coarse facial featuresHPOHP:0000280
- 2 of 4 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 4 reported patients
- EEG with occipital epileptiform dischargesHPOHP:0033720
- 2 of 4 reported patients
- Flexion contracture of toeHPOHP:0005830
- 2 of 4 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 4 reported patients
- Inappropriate laughterHPOHP:0000748
- 2 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 4 reported patients
Show the remaining 6
- Slurred speechHPOHP:0001350
- 2 of 4 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 4 reported patients
- EEG with generalized epileptiform dischargesHPOHP:0011198
- 1 of 4 reported patients
- Inappropriate cryingHPOHP:0030215
- 1 of 4 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 4 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.
- TBC1D2BHGNC:29183
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2020