MeSH Browser

MeSH Supplementary: Pitt-Hopkins syndrome
Unique ID: C537403
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537403
Entry Term(s): Encephalopathy, Severe Epileptic, With Autonomic Dysfunction; Mental Retardation, Syndromal, With Intermittent Hyperventilation; Pitt Hopkins syndrome
Registry Numbers: 0
Heading Mapped to: *Hyperventilation; *Intellectual Disability; *Facies
Frequency: 83
Note: A developmental disorder characterized by intellectual disability, wide mouth and distinctive facies, and intermittent hyperventilation followed by APNEA. It is caused by de novo autosomal dominant mutations in the TCF4 gene. OMIM: 610954
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Pitt-Hopkins syndrome MeSH Supplementary Concept Data 2025