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ENST00000392403:c.2845delG — Ages 21–25 ASH1L case profile
Best match: The whole person…outings, and busy places; who learned to read and write, did well in school, and built meaningful social connections; who regained speech, walking, eating, and interaction after an extremely severe period; and whose family…
Open result Case profileClinical · Clinical · Case profilesc.4043dup — Ages 6–10 ASH1L case profile
Best match: Visual focus, hand movements, and left strabismusIntense eye contact has been part of his social style since infancy and remains present at school age.
Open result Case profileClinical · Clinical · Case profilesNM_018489.3:c.4039_4043del — Ages 6–10 ASH1L case profile
Best match: Attention and medication historyHer family, therapists, and school team observed better attention and concentration during this period.
Open result Case profileClinical · Clinical · Case profilesNM_018489.2:c.5138_5139del — Ages 6–10 ASH1L case profile
Best match: Current supports and practical needsFormal therapy and school records support continued attention to: continued occupational, physical, and speech-language therapy matched to current goals; explicit help with word retrieval, narrative organization, inferencing,…
Open result Case profileClinical · Clinical · Case profiles