ARX
aristaless related homeobox
Ассоциированные заболевания
Герминативная мутация (причина)6
Early infantile developmental and epileptic encephalopathyORPHA:1934
→Corpus callosum agenesis-abnormal genitalia syndromeORPHA:2508
→X-linked spasticity-intellectual disability-epilepsy syndromeORPHA:3175
→X-linked non-syndromic intellectual disabilityORPHA:777
→Partington syndromeORPHA:94083
→Infantile epileptic spasms syndromeORPHA:697160
→Disease-causing germline mutation(s) (loss of function) in2