Disease-gene associations mined from literature

Human genes for Pitt-Hopkins-like syndrome 2

Pitt-Hopkins-like syndrome 2 [DOID:0111332]

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 NRXN1 on chromosome 2p16.3.

Synonyms:  Pitt-Hopkins-like syndrome 2,  DOID:0111332,  PittHopkinslike syndrome 2,  PTHSL2