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ID DOID:0061158
PURL http://purl.obolibrary.org/obo/DOID_0061158 Copy
Name Kariminejad neurodevelopmental syndrome
Definition An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on chromosome 3p25.
https://pubmed.ncbi.nlm.nih.gov/35652444/
Xrefs

MIM:620937

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is_a autosomal recessive intellectual developmental disorder

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