intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 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 · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 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.
- Intellectual disabilityHPOHP:0001249
- 11 of 12 reported patients
- Aggressive behaviorHPOHP:0000718
- 6 of 12 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 12 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 5 of 12 reported patients
- SeizureHPOHP:0001250
- 5 of 12 reported patients
- Generalized-onset seizureHPOHP:0002197
- 3 of 12 reported patients
- Memory impairmentHPOHP:0002354
- 3 of 12 reported patients
- PsychosisHPOHP:0000709
- 3 of 12 reported patients
- Sleep disturbanceHPOHP:0002360
- 3 of 12 reported patients
- Slowed slurred speechHPOHP:0007164
- 3 of 12 reported patients
- BradykinesiaHPOHP:0002067
- 2 of 12 reported patients
- EEG with generalized epileptiform dischargesHPOHP:0011198
- 2 of 12 reported patients
Show the remaining 14
- HyperactivityHPOHP:0000752
- 2 of 12 reported patients
- Nail-bitingHPOHP:0012170
- 2 of 12 reported patients
- Self-injurious behaviorHPOHP:0100716
- 2 of 12 reported patients
- Thick vermilion borderHPOHP:0012471
- 2 of 12 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 12 reported patients
- EsodeviationHPOHP:0020045
- 1 of 12 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.
- HGNC:16491HGNC:16491
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
- Also called
- MRT75