Pitt-hopkins-like syndrome 2

Preferred Label : Pitt-hopkins-like syndrome 2;

Symbol : PTHSL2;

CISMeF acronym : PTHSL2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neurexin 1 gene (NRXN1, 600565.0001);

Prefixed ID : #614325;

Details

Origin ID

614325;

UMLS CUI

C3280479;

Automatic exact mappings (from CISMeF team)
- NRXN1 wt Allele [NCIt concept]
- Pitt-Hopkins-like syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Pitt-Hopkins-like syndrome 2 [DO Concept]
DO Cross reference
- Pitt-Hopkins-like syndrome 2 [DO Concept]
Genes related to phenotype
- Neurexin I [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad-based gait [HPO term]
- Constipation [HPO term]
- Developmental regression [HPO term]
- Drooling [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Hyperventilation [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Protruding tongue [HPO term]
- Pulmonic stenosis [HPO term]
- Scoliosis [HPO term]
- Strabismus [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Pitt-Hopkins-like syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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