Pitt-Hopkins-like syndrome 2

Term ID

DOID:0111332

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. (2)

References

• OMIM:614325

Ontology

Human Disease   ( DOID:0111332 )