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Human Disease

hypomyelinating leukodystrophy 10

Term ID
DOID:0060788
Synonyms
  • HLD10
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. (2)
References
Ontology
Human Disease   ( DOID:0060788 )
Relationships
is a type of
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Genes Involved
Zebrafish Models