Clinical features include * Global developmental delay * Significant speech delay * Hypotonia * Micrognathia * Scoliosis * Defects in motor function both fine and gross * Optic atrophy * Ocular motor apraxia * Strabismus * Frontal bossing * Ear abnormalities * Low nasal bridge * Epicanthal folds * Midline tongue groove
Lamb-Shaffer syndrome
Potocki–Shaffer syndrome
Worth syndrome
Achard–Thiers syndrome
Barth syndrome
Lachiewicz–Sibley syndrome
Shone's syndrome
Kleine–Levin syndrome