Snijders Blok-Campeau syndrome

Term ID

DOID:0070668

Synonyms

• SNIBCPS

Definition

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13. (2)

References

• MESH:C000729467
• MIM:618205
• ORDO:599082
• SNOMEDCT_US_2025_09_01:1179408008
• UMLS_CUI:C4748701

Ontology

Human Disease   ( DOID:0070668 )