FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypomyelinating leukodystrophy 6 ID (Ontology) DOID:0060798 (Human Disease)
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.
Also Known As "H-ABC" ; "HABC" ; "HLD6" (for all, see Synonyms field below)
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 hypomyelinating leukodystrophy 6       4
 for disease ribbon | hypomyelinating leukodystrophy 6       4
 model of | hypomyelinating leukodystrophy 6       4
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease______
leukodystrophy                      |
 |__hypomyelinating leukodystrophy__|
                                    hypomyelinating leukodystrophy 6  4 rec.
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Is a autosomal dominant disease
hypomyelinating leukodystrophy
Part of
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Synonyms
  • "H-ABC" EXACT OMO:0003012
    "HABC" EXACT OMO:0003012
    "HLD6" EXACT OMO:0003012
    "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" EXACT
    "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT
Secondary IDs
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ICD10CM:E75.2
MIM:612438
ORDO:139441