Kariminejad neurodevelopmental syndrome

Term ID

DOID:0061158

Synonyms

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/

References

• MIM:620937

Ontology

Human Disease   ( DOID:0061158 )