WormBase Tree Display for DO_term: DOID:0060788
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| DOID:0060788 | Name | hypomyelinating leukodystrophy 10 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | HLD10 | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0060786 | |||||
| DB_info | Database | OMIM | disease | 616420 | |
| Attribute_of | Gene_by_orthology | WBGene00010924 |
