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Summary Literature (0)
DOID:0060488 - Pitt-Hopkins syndrome


Disease Ontology 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.

Synonyms:

In OMIM:
OMIM:610954 - PITT-HOPKINS SYNDROME; PTHS

In Mondo Disease Ontology:
MONDO:0012589 - Pitt-Hopkins syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : tcf4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)