MRT35 is a syndrome characterized by severe cognitive impairment, dysmorphic facies and skeletal abnormalities. Affected patients present with signs of delayed global development, thin body build with stooped posture, hypotonia, short ulna and hypertrichosis on the face and extremities. Facial dysmorphic features include a flat and broad occiput, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low set small ears, everted lower lip and micrognathia. Skeletal abnormalities may also consist of clinodactyly, mild thickening of the calvarium and minimal scoliosis. So far, MRT35 has only been diagnosed in four siblings of a consanguineous Saudi family.