OBO ID: DOID:0060797
Term Name: hypomyelinating leukodystrophy 8 Search Ontology:
Synonyms:
  • HLD8
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. (2)
References:
Ontology: Human Disease   ( DOID:0060797 )
Relationships
is a type of:
OTHER hypomyelinating leukodystrophy 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 614381
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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