Search Ontology:
Human Disease

hypomyelinating leukodystrophy 22

Term ID
DOID:0070402
Synonyms
  • HLD22
Definition
A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. https://pubmed.ncbi.nlm.nih.gov/33313762/
References
Ontology
Human Disease   ( DOID:0070402 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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