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ID DOID:0060488
Name Pitt-Hopkins syndrome
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.
http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome, https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/17436255, https://www.ncbi.nlm.nih.gov/pubmed/26621827, https://www.ncbi.nlm.nih.gov/pubmed/728011
Xrefs

GARD:4372

MESH:C537403

NCI:C129872

OMIM:610954

ORDO:2896

UMLS_CUI:C1970431

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