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GTR Home > Conditions/Phenotypes > Hypomyelination and Congenital Cataract

Hypomyelination and Congenital Cataract

Synonyms
LEUKODYSTROPHY, HYPOMYELINATING, 5
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Hypomyelination and Congenital Cataract
Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral extensor plantar responses), and mild-to-moderate cognitive impairment. Dysarthria and truncal hypotonia are observed. Cerebellar signs (truncal titubation and intention tremor) and peripheral neuropathy (muscle weakness and wasting of the legs) are present in the majority of affected individuals. Seizures can occur. Cataracts may be absent in some individuals.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Nicole I Wolf
Roberta Biancheri
Federico Zara
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Available tests

41 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DRCTNNB1A, FAM126A, HCC, HLD5, HYCC1
    Summary: hyccin PI4KA lipid kinase complex subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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