Brachydactyly, Cataract, Centrally nucleated skeletal muscle fibers, Cerebellar cortical atrophy, Cerebellar hypoplasia, Coxa valga, Cubitus valgus, Developmental cataract, Dysarthria, Dyskinesia, Dysphonia, Elevated circulating creatine kinase concentration, External genital hypoplasia, Failure to thrive, Flexion contracture, Gait ataxia, Gait disturbance, Generalized hypotonia, Global developmental delay, Gowers sign, Hip dislocation, Hip dysplasia, Hypergonadotropic hypogonadism, Hyperlordosis, Hypogonadism, Hyporeflexia, Hypotonia, Increased adipose tissue, Intellectual disability, Kyphosis, Limb ataxia, Lower limb spasticity, Metatarsus valgus, Microcephaly, Motor delay, Muscle flaccidity, Muscle stiffness, Muscular dystrophy, Myopathy, Neurological speech impairment, Nystagmus, Optic atrophy, Pectus carinatum, Peripheral neuropathy, Pes planus, Progressive muscle weakness, Psychomotor retardation, Respiratory insufficiency, Rigidity, Rimmed vacuoles, Scoliosis, Seizure, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short stature, Skeletal muscle atrophy, Spasticity, Specific learning disability, Spinal rigidity, Strabismus, obsolete Toe walking

increased skeletal muscle mass, preweaning lethality, complete penetrance