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Metadata
ID	DOID:0111332
Name	Pitt-Hopkins-like syndrome 2
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. https://www.ncbi.nlm.nih.gov/pubmed/19896112, https://www.ncbi.nlm.nih.gov/pubmed/22617343
Xrefs	OMIM:614325
Synonyms	PTHSL2 [EXACT]
Parent Relationships	is_a syndromic intellectual disability is_a autosomal recessive disease