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intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly

MONDO:0957999

Overview

GeneticsAutosomal recessive · CASP2 (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Pachygyria, Intellectual disability, Overactive reflexes (hyperreflexia), and Delayed speech and language development and others; and common findings: Upslanted palpebral fissure, Seizure, Low muscle tone (hypotonia), and Prominent nasal tip and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Seizure, Aggressive behavior, Hydrocephalus

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CASP2 encodes caspase 2 (452 aa). Is a regulator of the cascade of caspases responsible for apoptosis execution. Highest expression in Cells EBV-transformed lymphocytes (37.2 TPM) and Spleen (35.0 TPM).

Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly is associated with mutations in the CASP2 gene on chromosome 7.

The CASP2 protein participates in The PIDDosome activates CASP2 pathway.

CASP2 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 26.1.

Diagnosis

Genetic testing for CASP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 17 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620653

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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