FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypomyelinating leukodystrophy 10 ID (Ontology) DOID:0060788 (Human Disease)
Definition A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.
Also Known As "HLD10"
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 Genes
 hypomyelinating leukodystrophy 10       1
 for disease ribbon | hypomyelinating leukodystrophy 10       1
 model of | hypomyelinating leukodystrophy 10       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_____
leukodystrophy                      |
 |__hypomyelinating leukodystrophy__|
                                    hypomyelinating leukodystrophy 10  1 rec.
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Is a autosomal recessive disease
hypomyelinating leukodystrophy
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Synonyms
  • "HLD10" EXACT OMO:0003012
Secondary IDs
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MIM:616420