neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Term ID

DOID:0070513

Synonyms

• NEDFBA

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/37071997/

References

• OMIM:620489

Ontology

Human Disease   ( DOID:0070513 )