Cerebellar atrophy, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Cerebral atrophy, Cleft palate, Coxa valga, Cryptorchidism, Delayed ability to walk, Delayed speech and language development, Downslanted palpebral fissures, Enlarged cisterna magna, Failure to thrive, Failure to thrive in infancy, Flat acetabular roof, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatosplenomegaly, High palate, Hydronephrosis, Hypertelorism, Hypospadias, Hypotonia, Intellectual disability, mild, Intellectual disability, moderate, Intrauterine growth retardation, Irregularity of vertebral bodies, Kyphoscoliosis, Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Microtia, Midface retrusion, Mild global developmental delay, Narrow mouth, Osteopenia, Pierre-Robin sequence, Posterior rib gap, Progressive microcephaly, Pulmonary arterial hypertension, Recurrent infections, Renal insufficiency, Rhizomelia, Rib fusion, Scoliosis, Short foot, Short long bone, Short neck, Small hand, Smooth philtrum, Talipes equinovarus, Temporal cortical atrophy, Thin upper lip vermilion, Thrombocytopenia, Type II transferrin isoform profile, Upslanted palpebral fissure, Vertebral segmentation defect, Wide intermamillary distance, Wide nasal bridge