Babinski sign, Brachydactyly, Camptodactyly, Cerebellar atrophy, Clinodactyly, Cognitive impairment, Constipation, Delayed speech and language development, Distal amyotrophy, Downslanted palpebral fissures, Drooling, Dysarthria, Dysmetria, Dysphagia, Dysuria, Emotional lability, Epicanthus, Flexion contracture, Generalized hypotonia, Genu valgum, Global developmental delay, Growth delay, Hallucinations, Hammertoe, Hoarse voice, Hydronephrosis, Hyperextensible hand joints, Hyperplasia of midface, Hyperreflexia, Hypertelorism, Impaired vibratory sensation, Increased overbite, Intellectual disability, mild, Joint hypermobility, Knee clonus, Kyphoscoliosis, Lower limb muscle weakness, Lower limb spasticity, Low-set ears, Microcephaly, Motor delay, obsolete Difficulty walking, Panic attack, Pes cavus, Prominent nose, Psychosis, Short foot, Short stature, Skeletal muscle atrophy, Sleep abnormality, Slurred speech, Spastic dysarthria, Spastic gait, Spasticity, Spastic paraparesis, Spastic paraplegia, Specific learning disability, Speech apraxia, Upper limb muscle weakness, Upper limb spasticity

increased total body fat amount, increased tumor incidence, limb grasping, nervous system phenotype, paresis, preweaning lethality, incomplete penetrance, skeleton phenotype