Search Ontology:
Human Disease
Pitt-Hopkins-like syndrome 2
- Term ID
- DOID:0111332
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models