Pitt-Hopkins syndrome

Term ID

DOID:0060488

Synonyms

Definition

A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. (5)

References

• GARD:4372
• MESH:C537403
• NCI:C129872
• OMIM:610954
• ORDO:2896
• SNOMEDCT_US_2023_03_01:702344008
• UMLS_CUI:C1970431

Ontology

Human Disease   ( DOID:0060488 )