Chronic diarrhea, Cirrhosis, Complex febrile seizure, Cone-shaped epiphyses of the phalanges of the hand, Convex nasal ridge, Coxa valga, Delayed speech and language development, Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminase concentration, Failure to thrive, Failure to thrive in infancy, Fatal liver failure in infancy, Feeding difficulties, Flared metaphysis, Frontal bossing, Frontotemporal cerebral atrophy, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hepatomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the odontoid process, Intermittent diarrhea, Intrauterine growth retardation, Irregularity of vertebral bodies, Irritability, Limb hypertonia, Malar flattening, Microcephaly, Micrognathia, Motor delay, Narrow nasal bridge, Neonatal sepsis, Neutropenia, Nyctalopia, Nystagmus, Overhanging nasal tip, Pectus carinatum, Pectus excavatum, Platyspondyly, Prominent forehead, Prominent superficial veins, Proptosis, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Seizure, Short distal phalanx of finger, Short metacarpal, Short metatarsal, Short palm, Short stature, Sloping forehead, Small hand, Spasticity, Splenomegaly, Talipes equinovarus, Thick hair, Thrombocytopenia, Type II transferrin isoform profile, Wide anterior fontanel