neurodevelopmental disorder with absent language and variable seizures
MONDO:0032876Mondo
Findings
No curated finding names neurodevelopmental disorder with absent language and variable seizures 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
29 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.
- Delayed ability to walkHPOHP:0031936
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
- Chronic constipationHPOHP:0012450
- 4 of 5 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 of 5 reported patients
- SeizureHPOHP:0001250
- 4 of 5 reported patients · Childhood onset
- StrabismusHPOHP:0000486
- 4 of 5 reported patients
- Broad-based gaitHPOHP:0002136
- 3 of 4 reported patients
- Midface retrusionHPOHP:0011800
- 3 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 5 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 5 reported patients
- Pes planusHPOHP:0001763
- 3 of 5 reported patients
Show the remaining 17
- Cafe-au-lait spotHPOHP:0000957
- 2 of 4 reported patients
- Delayed ability to sitHPOHP:0025336
- 2 of 4 reported patients
- Tapered fingerHPOHP:0001182
- 2 of 4 reported patients
- Wide intermamillary distanceHPOHP:0006610
- 2 of 4 reported patients
- Blue scleraeHPOHP:0000592
- 2 of 5 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 5 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.
- WASF1HGNC:12732
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · G2P · Autosomal dominant · 2025