Damseh-Danson neurodevelopmental disorder

Term ID

DOID:0051092

Synonyms

• NEURODEVELOPMENTAL DISORDER WITH SEIZURES, ABSENT LANGUAGE, AND BEHAVIORAL ABNORMALITIES

Definition

An autosomal recessive intellectual developmental disability that is characterized by global developmental delay apparent from infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the SNX27 gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/41609011/

References

• MIM:621591

Ontology

Human Disease   ( DOID:0051092 )