Carious teeth, Congenital hip dislocation, Cryptorchidism, Cupped ear, Delayed skeletal maturation, Downslanted palpebral fissures, Eczematoid dermatitis, Enamel hypoplasia, Epicanthus, Exocrine pancreatic insufficiency, Failure to thrive, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, Hepatomegaly, Hernia, Hyperactivity, Hyperkeratosis, Hypermetropia, Hypertelorism, Hypodontia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint hypermobility, Leukemia, Malabsorption, Metaphyseal dysplasia, Microcephaly, Microdontia, Micrognathia, Myelodysplasia, Myopia, Nail dystrophy, Neutropenia, Osteopenia, Pancytopenia, Pectus carinatum, Recurrent aphthous stomatitis, Recurrent infections, Reduced bone mineral density, Retinal dystrophy, Scoliosis, Short stature, Short thorax, Small nail, Sparse hair, Thrombocytopenia, Type I diabetes mellitus