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neurodevelopmental disorder with severe motor impairment and absent language - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with severe motor impairment and absent language

MONDO:0060622

Also known as:DHX30-related complex neurodevelopmental disorderneurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndromeNEDMIAL

Overview

A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual disability, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility

GeneticsAutosomal dominant · DHX30 (chr 3)

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: Low muscle tone (hypotonia), Intellectual disability, Motor delay, and Delayed speech and language development; and very common findings: Absent speech. 56 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Inability to walk, Dystonia, 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.

DHX30 encodes DExH-box helicase 30 (1,194 aa). RNA-dependent helicase. Plays an important role in the assembly of the mitochondrial large ribosomal subunit. Required for optimal function of the zinc-finger antiviral protein ZC3HAV1. Highest expression in Testis (97.4 TPM) and Brain Cerebellum (64.9 TPM).

Neurodevelopmental disorder with severe motor impairment and absent language is caused by mutations in the DHX30 gene on chromosome 3.

DHX30 is classified as a druggable target with score 0.0.

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 DHX30 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodevelopmental disorder with severe motor impairment and absent language has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 1 very common feature, 9 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 neurodevelopmental disorder with severe motor impairment and absent language.

10 publications have been identified in PubMed for neurodevelopmental disorder with severe motor impairment and absent language. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (30%), and Other (10%).

Research Type	Count	% of Total
Patient case studies	4	40%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 4:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617804

Orphanet

European rare disease database

Orphanet:647788

GARD

Genetic and Rare Diseases Info Center

GARD:13608

Questions for Your Care Team

→Should I pursue genetic testing for DHX30, and what would the results mean for my family?
→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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Kisho

neurodevelopmental disorder with severe motor impairment and absent language

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neurodevelopmental disorder with severe motor impairment and absent language

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications