FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term hypomyelinating leukodystrophy 7 ID (Ontology) DOID:0060794 (Human Disease)
Definition A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Also Known As "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" ; "dentoleukoencephalopathy" ; "HLD7" (for all, see Synonyms field below)
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 hypomyelinating leukodystrophy 7       1
 for disease ribbon | hypomyelinating leukodystrophy 7       1
 model of | hypomyelinating leukodystrophy 7       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_____
leukodystrophy                      |
 |__hypomyelinating leukodystrophy__|
                                    hypomyelinating leukodystrophy 7  1 rec.
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Is a autosomal recessive disease
hypomyelinating leukodystrophy
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Synonyms
  • "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" EXACT
    "dentoleukoencephalopathy" EXACT
    "HLD7" EXACT OMO:0003012
    "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" EXACT
    "leukodystrophy with oligodontia" EXACT
    "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT
    "TACH syndrome" EXACT
    "tremor-ataxia-central hypomyelination syndrome" EXACT
Secondary IDs
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ICD10CM:G11.1
MIM:607694
ORDO:137639
ORDO:447893
ORDO:447896
ORDO:77295