Clinical features

Child with rare genetic disorder GAND

Children with GAND may present with a wide range of developmental and medical features.

Common

clinical

features

Most children with GAND experience global developmental delay and intellectual disability, particularly affecting speech, motor skills, and learning.

Speech delay and childhood apraxia of speech are very common. Some individuals remain partially or fully nonverbal later in life.

Low muscle tone (hypotonia) is typically present from infancy and contributes to delays in sitting, standing, and walking.

Many children have a larger head circumference (macrocephaly) and experience feeding difficulties, particularly in infancy.

Additional and variable features

Additional features may include vision problems such as strabismus, sensory sensitivities, sleep difficulties, and behavioral differences.

Some individuals develop epilepsy, while rare cases involve cardiac or other anatomical differences. These features vary widely between individuals.

Findings from clinical studies

A study by Shieh et al. (2020) evaluating 50 individuals with GAND reported

Core features

common features

Less common