Pitt-Hopkins-like syndrome 2
MONDO:0013690Mondo
Findings
No curated finding names Pitt-Hopkins-like syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013690), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:8008HGNC:8008
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: Pitt-Hopkins-like syndrome 2
- Also called
- NRXN1 Pitt-Hopkins-like syndromeNRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbancePitt-Hopkins-like syndrome caused by mutation in NRXN1Pitt-Hopkins-like syndrome type 2PTHSL2