Anteverted nares, Aplasia of the ovary, Arachnodactyly, Aspiration pneumonia, Ataxia, Axial hypotonia, Cardiomyopathy, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Decreased circulating IgA level, Decreased circulating IgG level, Decreased testicular size, Deep venous thrombosis, Delayed myelination, Delayed speech and language development, Depressed nasal bridge, Diarrhea, Elevated circulating growth hormone concentration, Elevated circulating hepatic transaminase concentration, Elevated circulating thyroid-stimulating hormone concentration, Enlarged cisterna magna, Epicanthus, Esotropia, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Fever, Flexion contracture, Generalized hypotonia, Global developmental delay, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, High palate, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperplastic labia majora, Hypertelorism, Hypertrophic cardiomyopathy, Hypoalbuminemia, Hypocholesterolemia, Hypogonadotropic hypogonadism, Hyporeflexia, Hypothyroidism, Hypotonia, Impaired antigen-specific response, Impaired neutrophil chemotaxis, Increased circulating prolactin concentration, Insulin resistance, Intellectual disability, Intracranial hemorrhage, Inverted nipples, Kyphoscoliosis, Kyphosis, Lipodystrophy, Long face, Long philtrum, Lymphedema, Macrotia, Mandibular prognathia, Microcephaly, Multiple joint contractures, Multiple renal cysts, Muscle weakness, Myopia, Nephrotic syndrome, Nonimmune hydrops fetalis, Nystagmus, Olivopontocerebellar hypoplasia, Osteopenia, Osteoporosis, Pericardial effusion, Pericarditis, Peripheral neuropathy, Pes planus, Photoreceptor layer loss on macular OCT, Platyspondyly, Polyneuropathy, Premature ovarian insufficiency, Prolonged partial thromboplastin time, Prolonged prothrombin time, Prominent forehead, Prominent nasal bridge, Prominent nose, Proteinuria, Proximal tubulopathy, Psychomotor retardation, Reduced antithrombin III activity, Reduced factor IX activity, Reduced factor XI activity, Reduced thyroxin-binding globulin, Renal cyst, Respiratory distress, Retrognathia, Rod-cone dystrophy, Seizure, Strabismus, Stroke-like episode, Thin upper lip vermilion, Thrombocytosis, Type I transferrin isoform profile, Upslanted palpebral fissure, Vomiting, Wide mouth, obsolete Joint laxity

abnormal trophoblast giant cell morphology, abnormal vertebral column morphology, decreased body length, decreased body size, decreased circulating antithrombin level, decreased circulating insulin-like growth factor I level, dilated proximal convoluted tubule, embryo phenotype, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality prior to organogenesis, embryonic lethality prior to tooth bud stage, embryonic lethality, complete penetrance, enlarged lymph nodes, hematopoietic system phenotype, maternal effect, nervous system phenotype, no abnormal phenotype detected, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, proximal convoluted tubule brush border loss, respiratory system phenotype, thin interventricular septum, thin ventricular wall