Term Name: Pitt-Hopkins-like syndrome 2
Synonyms: 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.
Ontology: Human Disease [DOID:0111332]   ( DOID:0111332 )

Relationships
is a type of: autosomal recessive disease syndromic intellectual disability