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| Term | hypomyelinating leukodystrophy 20 | ID (Ontology) | DOID:0112153 (Human Disease) |
| Definition | A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. | ||
| Also Known As | "HLD20" | ||
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| DO.org | |||
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autosomal genetic disease |__autosomal recessive disease_____ leukodystrophy | |__hypomyelinating leukodystrophy__| hypomyelinating leukodystrophy 20 |
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| Is a |
autosomal recessive disease hypomyelinating leukodystrophy |
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| MIM:619071 | |||