Pitt-Hopkins-like syndrome 2 (DOID:0111332)
Alliance: disease page
Synonyms: PTHSL2
Alt IDs: OMIM:614325
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.