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

• OMIM:619328

Ontology

Human Disease   ( DOID:0070402 )