Pitt-Hopkins-like syndrome 2

Definition

Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.

Also known as NRXN1 Pitt-Hopkins-like syndrome, NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance, Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome caused by mutation in NRXN1, Pitt-Hopkins-like syndrome type 2, PTHSL2 — per MONDO

Also identified as

• DOID 0111332 per MONDO
• OMIM 614325 per MONDO
• Orphanet 600663 per MONDO
• UMLS C3280479 per MONDO