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General Information
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| Term |
hypomyelinating leukodystrophy 8 |
ID (Ontology) |
DOID:0060797 (Human Disease) |
| Definition |
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. |
| Also Known As |
"HLD8" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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hypomyelinating leukodystrophy 8 | 1 | for disease ribbon | hypomyelinating leukodystrophy 8 | 1 | model of | hypomyelinating leukodystrophy 8 | 1 |
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Relationships