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, Generalized hypotonia, Global developmental delay, Hip dislocation, Hip dysplasia, Hypergonadotropic hypogonadism, Hypogonadism, Hyporeflexia, Hypotonia, Intellectual disability, Kyphosis, Limb ataxia, Metatarsus valgus, Microcephaly, Muscle flaccidity, Muscle stiffness, Muscular dystrophy, Myopathy, Neurological speech impairment, Nystagmus, Optic atrophy, Pectus carinatum, Peripheral neuropathy, Pes planus, Progressive muscle weakness, Psychomotor retardation, Rigidity, Rimmed vacuoles, Scoliosis, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short stature, Skeletal muscle atrophy, Spasticity, Specific learning disability, Strabismus, obsolete Abnormality of the metacarpal bones