early infantile epileptic encephalopathy 39
infantile epileptic encephalopathy that has material basis in mutation in the SLC25A12 gene on chromosome 2q31
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Summary
early infantile epileptic encephalopathy 39 is a class of disease[1]. It is known by 7 alternative names across languages and contexts.[2]
Key Facts
- Subclass of: Ohtahara syndrome[3]
- Prevalence: 0.000001[4]
- Genetic association: SLC25A12[5]
- Age of onset: neonatal onset[6]
- Exact match: http://purl.obolibrary.org/obo/DOID_0080349[7], http://identifiers.org/doid/DOID:0080349[8], http://purl.obolibrary.org/obo/DOID_0080423[9], http://identifiers.org/doid/DOID:0080423[10]
- On focus list of Wikimedia project: WikiProject Medicine[11]
- Has phenotype: seizure[12], Elevetated blood lactate[13], Congenital cerebral hypomyelination[14], Q141815623[15], Reduced brain N-acetyl aspartate level by MRS[16], hypertelorism[17], hypotonia[18], polyhydramnios[19], right ventricular hypertrophy[20], Q141815154[21], febrile seizure[22], atresia of small intestine[23], postnatal microcephaly[24], Q141815890[25]
- P14914: D353217[26]