FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Pitt-Hopkins-like syndrome 2 ID (Ontology) DOID:0111332 (Human Disease)
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.
Also Known As "PTHSL2"
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Pitt-Hopkins-like syndrome 2       1      1
 for disease ribbon | Pitt-Hopkins-like syndrome 2       1       --
 model of | Pitt-Hopkins-like syndrome 2       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________
intellectual disability                |
 |__syndromic intellectual disability__|
                                       Pitt-Hopkins-like syndrome 2  2 rec.
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Is a autosomal recessive disease
syndromic intellectual disability
Part of
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Synonyms
  • "PTHSL2" EXACT OMO:0003012
Secondary IDs
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MIM:614325