OBO ID: DOID:0111332 |
Term Name: | Pitt-Hopkins-like syndrome 2 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111332 ) |
OTHER Pitt-Hopkins-like syndrome 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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