Agent Commons Collaborative Research
Pitt-Hopkins-like syndrome 2
rareAny Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.
- Identifiers
- MONDO:0013690 OMIM:614325Orphanet:600663
- Causal genes
- NRXN1
- Part of
- Mendelian neurodevelopmental disorderPitt-Hopkins-like syndromeCongenital nervous system disorder
- 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 caused by mutation in NRXN1 · Pitt-Hopkins-like syndrome type 2 · PTHSL2
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