NLM Logo

Pitt-Hopkins syndrome MeSH Supplementary Concept Data 2022


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 Number
0
Heading Mapped to
*Hyperventilation
*Intellectual Disability
*Facies
Frequency
76
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 Preferred
page delivered in 0.003s