hypomyelinating leukodystrophy 8

Term ID

DOID:0060797

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

• ICD10CM:G11.1
• MIM:614381

Ontology

Human Disease   ( DOID:0060797 )