You are using an outdated browser. Please upgrade your browser to improve your experience.
Pitt-Hopkins-like syndrome 2
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.
Uniprot Description A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. Other features include decreased reflexes in the upper extremities, constipation, strabismus, and protruding tongue with drooling. In contrast to patients with Pitt-Hopkins syndrome, PTHSL2 patients present with normal or only mildly to moderately delayed motor milestones.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111332
OMIM:614325
UMLS:C3280479
MONDO:0013690
High level summary of knowledge for a disease, including descriptions and datasource references.