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GTR Home > Conditions/Phenotypes > Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities

Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities

Synonyms
CEROID LIPOFUSCINOSIS, NEURONAL, 15; Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Neuronal ceroid lipofuscinosis-15 (CLN15) is characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Intellectual and speech development is also delayed, and most have visual defects, including cortical visual blindness, nystagmus, and esotropia. The disorder is progressive, as manifest by developmental regression consistent with neurodegeneration. Although overt seizures are not observed, some patients may have episodic hypertonia or apnea, and EEG may show nonspecific abnormalities. Brain imaging shows unique diffusion restriction signal abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Early death may occur (summary by Polovitskaya et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLC-6, CONRIBA, CLCN6
    Summary: chloride voltage-gated channel 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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