Developmental and epileptic encephalopathy 66

Preferred Label : Developmental and epileptic encephalopathy 66;

Symbol : DEE66;

CISMeF acronym : EIEE66;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 66; EIEE66;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphofurin acidic cluster sorting protein 2 gene (PACS2, 610423.0001);

Prefixed ID : #618067;

Details

Origin ID

618067;

UMLS CUI

C4748070;

Currated CISMeF NLP mapping
- Developmental And Epileptic Encephalopathy 66 [NCIt concept]
- developmental and epileptic encephalopathy 66 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 66 [DO Concept]
Genes related to phenotype
- Phosphofurin acidic cluster sorting protein 2 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Anemia [HPO term]
- Astigmatism [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarse facial features [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Enlarged cisterna magna [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Myopia [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental And Epileptic Encephalopathy 66 [NCIt concept]
- developmental and epileptic encephalopathy 66 [DO Concept]

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