hypomyelinating leukodystrophy 6 Disease Ontology Browser

Disease Ontology Browser

hypomyelinating leukodystrophy 6 (DOID:0060798)
Alliance: disease page
Synonyms: H-ABC; HABC; HLD6; hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum; hypomyelination with atrophy of basal ganglia and cerebellum
Alt IDs: OMIM:612438, ICD10CM:E75.2, ORDO:139441
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.

Disease References using Mouse Models (2)

Allelic Composition	Genetic Background	Reference	Phenotypes
Tubb4aem1Avan/Tubb4aem1Avan	involves: C57BL/6	J:291062	View
Tubb4aJit/Tubb4aJit	FVB.B6-Tubb4a^Jit	J:321692	View
Tubb4aJit/Tubb4a+	FVB.B6-Tubb4a^Jit	J:321692	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24