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Case profileClinical · Clinical · Case profiles
NM_018489.3:c.7927C>T — Ages 1–5 ASH1L case profile
Best match: Gastrointestinal and feeding historyConstipation and abdominal cramps have not been a problem, and fecal calprotectin, CRP, and ESR have reportedly remained normal.
Open result PageAbout · AboutWhat families are seeing
Best match: FROM DIAGNOSIS TO TIMELINE Why this family-led timeline matters—and the first contrast that changed my thinking.What appears only during illness, pain, constipation, poor sleep, puberty, seizures, or medication exposure?
Open result EvidenceAbout · About · Family evidenceAge, sex, and clinical course
Best match: FOUR AGE WINDOWS Open the age-ordered female and male loss-of-function comparison…concerns, delayed walking and speech, soft-food dependence, early constipation, hypotonia, and emerging oral-motor difficulty.
Open result EvidenceAbout · About · Family evidenceThe outward symptom can hide the underlying physiology.
Best match: 4 de-identified examples, each kept beside what supports it.One boy’s history moved from infant constipation to withholding around toilet training and school, then to imaging-reported fecal impaction with overflow diarrhea.
Open result Case profileClinical · Clinical · Case profiles