Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Cerebral calcification, Conductive hearing impairment, Congenital hypothyroidism, Deeply set eye, Developmental regression, Diabetes mellitus, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Dystrophic fingernails, Flexion contracture, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Glucose intolerance, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypergonadotropic hypogonadism, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypotonia, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wing, Narrow mouth, Neurodegeneration, Osteolysis, Osteoporosis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Restlessness, Scoliosis, Seizure, Self-injurious behavior, Short distal phalanx of finger, Short stature, Sparse scalp hair, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity

decreased liver glycogen level, disheveled coat, improved glucose tolerance, increased circulating alkaline phosphatase level, increased circulating aspartate transaminase level, increased circulating ketone body level, increased insulin sensitivity, lethality at weaning, incomplete penetrance, liver/biliary system phenotype, perinatal lethality, incomplete penetrance, premature death, small hippocampus