Luo-Agrawal neurodevelopmental syndrome

Term ID

DOID:0070700

Synonyms

Definition

A syndrome characterized by neurodevelopmental delay, hypotonia, dysmorphic features, and growth restriction with or without structural brain abnormalities that has_material_basis_in homozygous mutation in the WSB2 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/40374945/

References

• MIM:621552

Ontology

Human Disease   ( DOID:0070700 )