OBO ID: DOID:0111332
Term Name: Pitt-Hopkins-like syndrome 2 Search Ontology:
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 NRXN1 on chromosome 2p16.3. (2)
References:
Ontology: Human Disease   (DOID:0111332)
OTHER Pitt-Hopkins-like syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NRXN1 Pitt-Hopkins-like syndrome 2 614325
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None