neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities

Term ID

DOID:0070809

Synonyms

• NEDBES

Definition

An autosomal dominant intellectual developmental disorder characterized by behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism that has_material_basis_in heterozygous mutation in the FEM1B gene on chromosome 15q23. https://pubmed.ncbi.nlm.nih.gov/38465576/

References

• MIM:621263
• UMLS_CUI:C6012750

Ontology

Human Disease   ( DOID:0070809 )