Disease #01145 (EIEE14 (encephalopathy, epileptic, early infantile, type 14 (EIEE-14)), OMIM:614959)

Official abbreviation EIEE14
Name encephalopathy, epileptic, early infantile, type 14 (EIEE-14)
OMIM ID 614959
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene KCNT1
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Individuals

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00421942 206935 - - M ? Turkey - - 0 - - EIEE14 Hand muscle weakness, Peripheral axonal neuropathy, Gait disturbance KCNT1 KCNT1 1 1 Andreas Laner
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