NM_018489.3:c.8120dup

An adolescent girl in the 11–15 age group with a heterozygous ASH1L frameshift variant reported as pathogenic and de novo. She reads fluently, remembers meaningful occasions and familiar information, and learns especially well through rhythm, repetition, songs, music, movement, and routine. Her history also includes developmental delay, word-finding difficulty, uneven memory and sequencing, challenges with time and number, a caregiver-reported epilepsy diagnosis in early childhood, very light and interrupted sleep, restricted eating, and petite growth.