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General Information
ZIRC
OBO ID: DOID:0060488
Term Name: Pitt-Hopkins syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:0060488)
OTHER Pitt-Hopkins syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TCF4 Pitt-Hopkins syndrome 610954
PHENOTYPE No data available

CITATIONS (1)