intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
MONDO:0033572Mondo
Findings
No curated finding names intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 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
13 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
- 2 of 2 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 2 reported patients
- AnxietyHPOHP:0000739
- 2 of 2 reported patients
- AutismHPOHP:0000717
- 2 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients · Infantile onset
- HyperactivityHPOHP:0000752
- 2 of 2 reported patients
- Infantile spasmsHPOHP:0012469
- 2 of 2 reported patients · Infantile onset
- Mandibular prognathiaHPOHP:0000303
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Self-injurious behaviorHPOHP:0100716
- 2 of 2 reported patients
Show the remaining 1
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
Where it sits
Other names
1 name
Resolves to: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
- Also called
- IDDEBF