Congenital hip dislocation, Decreased fetal movement, Difficulty running, Difficulty walking, Distal lower limb amyotrophy, Distal muscle weakness, Fasciculations, Feeding difficulties, Flexion contracture, Gowers sign, Hand clenching, Hand muscle weakness, Hip contracture, Hip dysplasia, Hyperlordosis, Hyperreflexia, Hypoplasia of the corpus callosum, Hyporeflexia, Knee flexion contracture, Kyphosis, Macrocephaly, Micrognathia, Midface retrusion, Motor delay, Overlapping fingers, Polymicrogyria, Proximal muscle weakness, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scapular winging, Scoliosis, Severe muscular hypotonia, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spasticity, Spinal muscular atrophy, Talipes equinovarus, Ventriculomegaly, Waddling gait, obsolete Toe walking

abnormal hippocampus pyramidal cell layer, abnormal septum pellucidum morphology, abnormal stratification in cerebral cortex, absent cerebellar granule layer, decreased brain external capsule size, decreased corpus callosum size, domed cranium, enlarged lateral ventricles, forebrain atrophy, hippocampus atrophy, limb grasping, long stride length, nervous system phenotype, no abnormal phenotype detected, postnatal lethality, incomplete penetrance, premature death, small cerebellum, striatum atrophy, thin cerebral cortex