ADNP mutation patients share several clinical features with Coffin-Siris patients, namely feeding difficulties, gastrointestinal problems, visual impairment, frequent infections, hypotonia, structural central nervous system abnormalities, speech impairment, intellectual disability, developmental delay, and behavioral problems (Table I). The ADNP patients identified so far do not have a coarse face with sparse scalp hair, hypertrichosis, thick eyebrows or long eyelashes as observed in patients with Coffin-Siris syndrome, nor have intrauterine or postnatal growth retardation been reported (Tables I and II).
