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Human Disease

autosomal recessive intellectual developmental disorder 48

Term ID
DOID:0081212
Synonyms
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. https://pubmed.ncbi.nlm.nih.gov/25704603/
References
Ontology
Human Disease   ( DOID:0081212 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models