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intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies

MONDO:0033572

Also known as:IDDEBF

Overview

GeneticsAutosomal recessive · ALG14 (chr 1)

OnsetINFANTILE

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: Absent speech, Delayed CNS myelination, Seizure, and Global developmental delay and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Absent speech, Seizure, Global developmental delay

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.

ALG14 encodes ALG14 UDP-N-acetylglucosaminyltransferase subunit (216 aa). Part of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. Highest expression in Adrenal Gland (4.3 TPM) and Nerve Tibial (3.6 TPM).

Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies is associated with mutations in the ALG14 gene on chromosome 1.

The ALG14 protein participates in Defective ALG14 causes ALG14-CMS, Defective ALG2 causes CDG-1i, and Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP pathways.

ALG14 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ALG14 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619031

GARD

Genetic and Rare Diseases Info Center

GARD:18529

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 epilepsy, behavioral abnormalities, and coarse facies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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