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Human Disease

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
Ontology
Human Disease   ( DOID:0111332 )
Relationships
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Genes Involved
Zebrafish Models