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Pitt-Hopkins-like syndrome 2

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
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.
Mondo Term and Equivalent IDs
MONDO:0013690:  Pitt-Hopkins-like syndrome 2
DOID:0111332: 
UMLS:C3280479: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found