leukodystrophy, hypomyelinating, 6
Findings
No curated finding names leukodystrophy, hypomyelinating, 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
Definition from the Mondo Disease Ontology (MONDO:0012905), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Developmental regressionHPOHP:0002376
- 11 of 11 reported patients
- DysarthriaHPOHP:0001260
- 11 of 11 reported patients
- LeukodystrophyHPOHP:0002415
- 11 of 11 reported patients
- SpasticityHPOHP:0001257
- 11 of 11 reported patients
- DystoniaHPOHP:0001332
- 10 of 11 reported patients
- RigidityHPOHP:0002063
- 9 of 11 reported patients
- AtaxiaHPOHP:0001251
Show the remaining 7
- HypotoniaHPOHP:0001252
- 2 of 11 reported patients
- NystagmusHPOHP:0000639
- 2 of 11 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 2 of 11 reported patients
- SeizureHPOHP:0001250
- 1 of 11 reported patients
- Visual impairmentHPOHP:0000505
- 1 of 11 reported patients
- Cerebellar atrophyHPOHP:0001272
- Intellectual disabilityHPO
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TUBB4AHGNC:20774
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- UFM1HGNC:20597
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: leukodystrophy, hypomyelinating, 6
- Also called
- H-ABCHABCHLD6hypomyelinating leukodystrophy 6hypomyelinating leukodystrophy type 6hypomyelination with atrophy of basal ganglia and cerebellumleukodystrophy, hypomyelinating, type 6