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intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly (MRT75) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly

MONDO:0030785

Also known as:MRT75

Overview

GeneticsAutosomal recessive · PIDD1 (chr 11)

ResearchLimited published research (3 articles)

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 very common findings: Intellectual disability; and common findings: Seizure, Aggressive behavior, Global developmental delay, and Attention deficit hyperactivity disorder. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Bilateral tonic-clonic seizure, Slowness of movement (bradykinesia), Seizure

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.

PIDD1 function has not been fully characterized.

Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly is caused by mutations in the PIDD1 gene on chromosome 11.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for PIDD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 4 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly.

3 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Krutish A (2025). [PMID: 40458561](https://pubmed.ncbi.nlm.nih.gov/40458561/). *Front Genet*. [Case Report / Case Series]
Chenyue Z (2025). [PMID: 40603987](https://pubmed.ncbi.nlm.nih.gov/40603987/). *Sci Rep*. [Basic Science / Preclinical]
Bertoli-Avella AM (2025). [PMID: 39870877](https://pubmed.ncbi.nlm.nih.gov/39870877/). *Eur J Hum Genet*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619827

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 75, with neuropsychiatric features and variant lissencephaly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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