Coarse facial features, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Dysostosis multiplex, EMG: myopathic abnormalities, EMG: myotonic discharges, EMG: positive sharp waves, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, Epicanthus, Episodic abdominal pain, Expressive language delay, Facial palsy, Fatty replacement of skeletal muscle, Foot dorsiflexor weakness, Frontal bossing, Gait disturbance, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, High palate, High, narrow palate, Hip flexor weakness, Hoarse voice, Hyperkinetic movements, Hypertelorism, Hypoplastic nipples, Hypothyroidism, Increased variability in muscle fiber diameter, Intellectual disability, mild, Joint hypermobility, Limited shoulder movement, Limited wrist extension, Long hallux, Long philtrum, Low posterior hairline, Low-set ears, Lower limb amyotrophy, Lower limb muscle weakness, Memory impairment, Mildly elevated creatine kinase, Muscle fiber inclusion bodies, Muscle weakness, Periorbital fullness, Prolonged partial thromboplastin time, Prolonged prothrombin time, Prominent forehead, Protuberant abdomen, Rimmed vacuoles, Scapular winging, Scoliosis, Seizure, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Sleep apnea, Smooth philtrum, Spinal deformities, Splenomegaly, Steppage gait, Synophrys, Thin upper lip vermilion, Thoracic hypoplasia, Tibialis muscle weakness, Upper airway obstruction, Weakness of long finger extensor muscles, Wide nasal bridge

embryonic lethality during organogenesis, incomplete penetrance, fused podocyte foot processes, increased glomerular capsule space, kidney hemorrhage, muscle phenotype, pale kidney, podocyte foot process effacement, postnatal lethality, complete penetrance, premature death, preweaning lethality, complete penetrance, renal glomerulus hypertrophy