Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060488 )
Relationships
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Genes Involved
Zebrafish Models