intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
MONDO:0957999Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 80, with 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
- Childhood onset
HPO, annotations 2026-09-02
Features
23 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 speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- PachygyriaHPOHP:0001302
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 3 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 3 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 3 reported patients
- Broad lateral eyebrowHPOHP:0007933
- 1 of 3 reported patients
- Dimple chinHPOHP:0010751
- 1 of 3 reported patients
Show the remaining 11
- HydrocephalusHPOHP:0000238
- 1 of 3 reported patients
- Muscle weaknessHPOHP:0001324
- 1 of 3 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 3 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 1 of 3 reported patients
- Prominent nasal tipHPOHP:0005274
- 1 of 3 reported patients
- SeizureHPOHP:0001250
- 1 of 3 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.
- CASP2HGNC:1503
- Moderate · G2P · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2026
- Limited · Ambry Genetics · Autosomal recessive · 2023