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intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

MONDO:0044319

Also known as:IDDFSDA

Overview

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).

GeneticsAutosomal recessive · OTUD6B (chr 8)

OnsetANTENATAL, INFANTILE

ResearchLimited published research (2 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 always present findings: Seizure and Severe intellectual disability; and common findings: Decreased body weight, Short stature, Generalized hypotonia, and Long palpebral fissure and others. 49 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Inability to walk, Seizure, Spastic tetraplegia

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.

OTUD6B encodes OTU deubiquitinase 6B (293 aa). Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1. Highest expression in Cells EBV-transformed lymphocytes (21.9 TPM) and Nerve Tibial (15.1 TPM).

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies is associated with mutations in the OTUD6B gene on chromosome 8.

OTUD6B is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for OTUD6B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 18 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 with dysmorphic facies, seizures, and distal limb anomalies.

2 publications have been identified in PubMed for intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Chen J (2025). [PMID: 41188742](https://pubmed.ncbi.nlm.nih.gov/41188742/). *BMC Pediatr*. [Case Report / Case Series]
Gangaram B (2024). [PMID: 38389298](https://pubmed.ncbi.nlm.nih.gov/38389298/). *Am J Med Genet A*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617452

Orphanet

European rare disease database

Orphanet:505237

GARD

Genetic and Rare Diseases Info Center

GARD:17942

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 with dysmorphic facies, seizures, and distal limb anomalies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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