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leukodystrophy, hypomyelinating, 19, transient infantile (HLD19) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 19, transient infantile

MONDO:0032871

Also known as:HLD19

Overview

GeneticsAutosomal dominant · TMEM63A (chr 1)

OnsetINFANTILE, NEONATAL

ResearchLimited published research (4 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: Delayed CNS myelination, Delayed ability to walk, and Pendular nystagmus; and common findings: Poor head control, Ataxia, Hypospadias, and Myopia and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Babinski sign, Ataxia, Intention tremor

Genetic Landscape

TMEM63A function has not been fully characterized.

Leukodystrophy, hypomyelinating, 19, transient infantile is associated with mutations in the TMEM63A gene on chromosome 1.

Diagnosis

Genetic testing for TMEM63A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 5 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 leukodystrophy, hypomyelinating, 19, transient infantile.

4 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 19, transient infantile. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

Halford J (2025). [PMID: 40694323](https://pubmed.ncbi.nlm.nih.gov/40694323/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Fathi M (2025). [PMID: 40594583](https://pubmed.ncbi.nlm.nih.gov/40594583/). *Scientific reports*. [Epidemiology / Natural History]
Yoneno S (2024). [PMID: 38951194](https://pubmed.ncbi.nlm.nih.gov/38951194/). *Journal of human genetics*. [Case Report / Case Series]
Siori D (2024). [PMID: 38790154](https://pubmed.ncbi.nlm.nih.gov/38790154/). *Genes*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618688

Questions for Your Care Team

→Should I pursue genetic testing for TMEM63A, 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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leukodystrophy, hypomyelinating, 19, transient infantile

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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