intellectual disability-epilepsy-extrapyramidal syndrome
MONDO:0014952Mondo
Findings
No curated finding names intellectual disability-epilepsy-extrapyramidal syndrome 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
- Infantile onset
HPO, annotations 2026-09-02
Features
37 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.
- Absent speechHPOHP:0001344
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Aggressive behaviorHPOHP:0000718
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- AgitationHPOHP:0000713
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- DroolingHPOHP:0002307
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- DyskinesiaHPOHP:0100660
- 3 of 3 reported patients
- EEG abnormalityHPOHP:0002353
- 3 of 3 reported patients
- Emotional labilityHPOHP:0000712
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients · Infantile onset
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Involuntary movementsHPOHP:0004305
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
Show the remaining 25
- Motor stereotypyHPOHP:0000733
- 3 of 3 reported patients
- Sleep disturbanceHPOHP:0002360
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- Reduced eye contactHPOHP:0000817
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
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.
- DEAF1HGNC:14677
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: intellectual disability-epilepsy-extrapyramidal syndrome
- Also called
- neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures