NM_018489.3:c.7927C>T

This is the story of a boy in the 1–5 age group with an ASH1L missense variant classified as a variant of uncertain significance. He has hypotonia, autism, a history of substantially delayed speech that is now developing into functional spoken communication, a history of severe food-allergy-associated gastrointestinal illness, chronic trigger-associated rhinorrhea and open-mouth sleep, reduced pain response, and soft, translucent, stretchy skin in the context of a maternal connective-tissue history. He also has macrocephaly, which his family relates to a separate NFIB finding. Over the most recent six months, he has made major gains in communication, regulation, safety, toileting, motor skills, navigation, and preschool participation. His family describes him as calm, affectionate, physically strong, active, and increasingly independent in everyday routines.