PRMT7

Clinical Characteristics

The main clinical features of PRMT7-syndrome are: psychomotor delay with learning difficulties, intellectual disability, floppiness, seizures, recurrent abnormal facial features (such as prominent forehead, abnormal eye shape, flattened nose, high arched palate, thin lips, and short neck), abnormalities of hands and feet (abnormal curvature of fingers, short fingers, webs among the fingers/toes, short hands and feet), and short stature. In some cases deafness, strabismus, genitourinary problems (e.g., retained testicles), obesity, and hormonal issues may be present.