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global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

MONDO:0018822

Overview

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).

Prognosis

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 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome.

16 publications have been identified in PubMed for global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Research Type	Count	% of Total
Patient case studies	10	67%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:480898

GARD

Genetic and Rare Diseases Info Center

GARD:17871

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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