Pitt-Hopkins-Like Syndrome 2
Disease ID: disease_node_16362
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:614325 |
|---|---|
| Subclassof | DOID_0050888, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PTHSL2 |
| Doid Label | Pitt-Hopkins-like syndrome 2 |
| Doid Description | 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. |
| Has Phenotype | HP_0012758 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16362 |
| Doid Id | DOID_0111332 |
| Label | Pitt-Hopkins-Like Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic Intellectual Disability(ID:disease_node_16360) (Disease)