Developmental and epileptic encephalopathy 82

Preferred Label : Developmental and epileptic encephalopathy 82;

Symbol : DEE82;

CISMeF acronym : EIEE82;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glutamate oxaloacetate transaminase, mitochondrial, deficiency of; Got2 deficiency; EIEE82; Epileptic encephalopathy, early infantile, 82;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutamate oxaloacetate transaminase, mitochondrial gene (GOT2, 138150.0001);

Laboratory abnormalities : Increased serum ammonia; Increased serum lactate; Decreased serine (patient A); Increased citrulline (patient A);

Prefixed ID : #618721;

Details

Origin ID

618721;

UMLS CUI

C5231473;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 82 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 82 [DO Concept]
Genes related to phenotype
- Glutamate oxaloacetate transaminase, mitochondrial [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Decreased body weight [HPO term]
- Delayed speech and language development [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hyperammonemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability, severe [HPO term]
- Neonatal hypotonia [HPO term]
- Progressive microcephaly [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spastic paraparesis [HPO term]
- Spastic tetraplegia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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