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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:

Xenbase Genes : tcf4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012589 - Pitt-Hopkins syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)