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

Disease Ontology Definition:A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It has material basis in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.

Synonyms:

Echinobase Genes :


OMIM:
MIM:610954 - pitt-hopkins syndrome; pths

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

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