Term Name: | hypomyelinating leukodystrophy 16 |
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Synonyms: | HLD16 |
Definition: | A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. |
Ontology: | Human Disease [DOID:0070405] ( DOID:0070405 ) |