Term Name: | Pitt-Hopkins-like syndrome 2 |
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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 ) |