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Pitt-Hopkins-like syndrome 2
Summary
- Synonym
-
- PTHSL2
- Definition
- A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3.
- Super Class
- autosomal recessive disease syndromic intellectual disability
External Links
- Disease Ontology
- DOID:0111332
- Mondo Disease Ontology
- OMIM
