FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypomyelinating leukodystrophy 12 ID (Ontology) DOID:0060796 (Human Disease)
Definition A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
Also Known As "HLD12"
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 Genes
 hypomyelinating leukodystrophy 12       1
 for disease ribbon | hypomyelinating leukodystrophy 12       1
 model of | hypomyelinating leukodystrophy 12       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_____
leukodystrophy                      |
 |__hypomyelinating leukodystrophy__|
                                    hypomyelinating leukodystrophy 12  1 rec.
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Is a autosomal recessive disease
hypomyelinating leukodystrophy
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Synonyms
  • "HLD12" EXACT OMO:0003012
Secondary IDs
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MIM:616683