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Case profileClinical · Clinical · Case profiles
NM_018489.3:c.8120dup — Ages 11–15 ASH1L case profile
Best match: Early bedtime, daytime naps, and after-school fatigueShe prefers an early bedtime and tires quickly after school.
Open result Case profileClinical · Clinical · Case profilesNM_018489.2:c.1043C>G — Ages 6–10 ASH1L case profile
Best match: School, function, and family careEpilepsy also reaches into school life: his mother reports that a convulsion at school led to hospital care.
Open result Case profileClinical · Clinical · Case profilesp.(Phe1310Tyrfs*15) — Ages 6–10 ASH1L case profile
Best match: School supportsVisual teaching is central to his school access.
Open result Case profileClinical · Clinical · Case profilesNM_018489.3:c.1885_1888delinsTAA — Ages 6–10 ASH1L case profile
Best match: Learning, school, and everyday functionHer school supports include an individualized curriculum, specialized educational and language groups, and weekly speech-language support.
Open result Case profileClinical · Clinical · Case profilesNM_018489.3:c.340A>G — Ages 11–15 ASH1L case profile
Best match: School and weekly supportsHe attends and participates in a substantial weekly support program.