OBO ID: DOID:0060788
Term Name: hypomyelinating leukodystrophy 10 Search Ontology:
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:
OTHER hypomyelinating leukodystrophy 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PYCR2 Leukodystrophy, hypomyelinating, 10
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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