hypomyelinating leukodystrophy 6

Summary

DOID:0060798 - hypomyelinating leukodystrophy 6

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13.

Synonyms: H-ABC, HABC, HLD6, hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, hypomyelination with atrophy of basal ganglia and cerebellum

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tubb4a, ufm1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012905 - hypomyelinating leukodystrophy 6

MONDO:0012905 - hypomyelinating leukodystrophy 6

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), hypomyelinating leukodystrophy (is_a)