arr[GRCh38] 1q22(155454274_155539091)x1

Affected ASH1L regionASH1L exons 2–4 of 28 · NM_018489.3

Genomic and gene-level notationGRCh38 1q22:155454274–155539091 · ASH1L NM_018489.3 exons 2–4 of 28

A girl in the 11–15 age group with a confirmed de novo pathogenic intragenic deletion affecting ASH1L exons 2–4. Her history includes intellectual disability, autism, delayed motor and language development, substantial communication and learning needs, childhood sleep and hearing difficulties, lifelong farsightedness and accommodative esotropia, tall stature with delayed skeletal maturation and pubertal development, genu valgum, bilateral hallux valgus requiring staged surgery, and scoliosis. She is also a future-minded young person who uses technology to communicate, continues building literacy and everyday skills, and talks about having a job and obtaining a driver’s licence.

ASH1L LONGITUDINAL CASE PROFILE

Report genomic array result

arr[GRCh38] 1q22(155454274_155539091)x1

Affected ASH1L regionASH1L exons 2–4 of 28 · NM_018489.3

Genomic and gene-level notationGRCh38 1q22:155454274–155539091 · ASH1L NM_018489.3 exons 2–4 of 28

arr[GRCh38] 1q22(155454274_155539091)x1

arr[GRCh38] 1q22(155454274_155539091)x1

Who she is

Genetic finding and route to diagnosis

Pregnancy, birth, early feeding, and growth

Early movement, muscle tone, and toileting

Early language and developmental assessment

Autism, sensory responses, regulation, and safety

Current speech and conversation

Reading, writing, memory, and school

Support, advocacy, and transition to adulthood

Brief eye and head movements in infancy

Sleep and energy

Ears, airway, and hearing

Eyes and vision

Appetite, thirst, digestion, skin, and allergies

Tall stature, skeletal maturation, and puberty

Feet, knee alignment, joints, and surgery

Scoliosis

Dental and childhood cardiac history

Current picture and family priorities

The whole person