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neuroaxonal dystrophy renal tubular acidosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuroaxonal dystrophy renal tubular acidosis

MONDO:0043075

Also known as:CNS disorder characterised by severe behavioural retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentrCNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentrMaccario Mena weir syndrome

Overview

ResearchLimited published research (1 article)

Diagnosis

Biomarker and diagnostic research for neuroaxonal dystrophy renal tubular acidosis has been reported in the published literature.

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 neuroaxonal dystrophy renal tubular acidosis.

1 publication has been identified in PubMed for neuroaxonal dystrophy renal tubular acidosis. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Hock DH (2025). [PMID: 40400026](https://pubmed.ncbi.nlm.nih.gov/40400026/). *Genome medicine*. [Diagnostic / Biomarker]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 8:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:349

Questions for Your Care Team

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neuroaxonal dystrophy renal tubular acidosis

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team