Pilarowski-Bjornsson syndrome

Term ID

DOID:0070757

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q. https://pubmed.ncbi.nlm.nih.gov/28866611/

References

• GARD:0017970
• ICD10CM:Q87.0
• MIM:617682
• ORDO:529965
• SNOMEDCT_US_2026_03_01:1217382002
• UMLS_CUI:C4540131

Ontology

Human Disease   ( DOID:0070757 )