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Metadata
ID	DOID:0070401
Name	hypomyelinating leukodystrophy 25
Definition	A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. https://pubmed.ncbi.nlm.nih.gov/35455965/, https://pubmed.ncbi.nlm.nih.gov/35953447/
Xrefs	MIM:620243
Synonyms	HLD25 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a hypomyelinating leukodystrophy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance