ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
6 signs/symptoms

Epileptic encephalopathy with global cerebral demyelination

Microcephaly - seizures - developmental delay


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC25A12	(0.76)	PNKP

Citations in the biomedical literature:

Epileptic encephalopathy with global cerebral demyelination		Microcephaly - seizures - developmental delay
	Synonym(s): - Mitochondrial aspartate-glutamate carrier 1 deficiency		Synonym(s): - MCSZ

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Microcephaly - seizures - developmental delay
	Very frequent - Autosomal recessive inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Hyperactivity / attention deficit - Psychic / behavioural troubles
Epileptic encephalopathy with global cerebral demyelination
(no data available)