Affected individuals show psychomotor delay with learning difficulties and impaired speech development. Intellectual disability, hypotonia, seizures, recurrent dysmorphic features (such as frontal bossing, epicanthal folds with short palpebral fissures, malar hypoplasia, depressed nasal bridge, high arched palate, thin lips, and short neck), abnormalities of hands and feet (brachydactyly, webbing of the fingers and short metacarpals and metatarsals), and short stature represent the cardinal features of PRMT7-related syndrome. In some cases, sensorineural hearing loss, strabismus, genitourinary malformations, and endocrinological features (pseudohypoparathyroidism, obesity) have been reported. Delayed myelination is the most common neuroimaging finding.
PRMT7