Abdominal symptom, Abnormal axial skeleton morphology, Abnormal immunoglobulin level, Abnormal internal genitalia, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of blood and blood-forming tissues, Abnormality of body height, Abnormality of cellular immune system, Abnormality of erythrocytes, Abnormality of facial skeleton, Abnormality of female internal genitalia, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of movement, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anus, Abnormality of the bladder, Abnormality of the bronchi, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the choanae, Abnormality of the ear, Abnormality of the eyelid, Abnormality of the face, Abnormality of the female genitalia, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the glial cells, Abnormality of the hard palate, Abnormality of the head, Abnormality of the immune system, Abnormality of the integument, Abnormality of the kidney, Abnormality of the lip, Abnormality of the lower urinary tract, Abnormality of the lung, Abnormality of the mandible, Abnormality of the mastoid, Abnormality of the middle ear, Abnormality of the mouth, Abnormality of the nasopharynx, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the outer ear, Abnormality of the ovary, Abnormality of the palate, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the pharynx, Abnormality of the pinna, Abnormality of the renal pelvis, Abnormality of the respiratory system, Abnormality of the sinuses, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the tracheobronchial system, Abnormality of the upper respiratory tract, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of thrombocytes, Abnormality of upper lip, Abnormal nasal morphology, Abnormal platelet count, All, Anal atresia, Anal stenosis, Anemia, Anemia due to reduced life span of red cells, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the mandible, Atrophy/Degeneration affecting the central nervous system, Autoimmune hemolytic anemia, Autoimmunity, Autosomal recessive inheritance, Bronchiectasis, Cafe-au-lait spot, Choanal atresia, Cleft palate, Cleft upper lip, Cognitive impairment, Diarrhea, Dilatation of the renal pelvis, Dysgammaglobulinemia, Functional abnormality of the bladder, Generalized abnormality of skin, Glioma, Growth abnormality, Growth delay, Hematological neoplasm, Hemolytic anemia, Hydronephrosis, Hyperactivity, Hypermelanotic macule, Hyperpigmentation of the skin, Hypogammaglobulinemia, Intellectual disability, Irregular hyperpigmentation, Localized skin lesion, Long nose, Lymphoma, Macrotia, Malignant neoplasm of the central nervous system, Mastoiditis, Medulloblastoma, Microcephaly, Micrognathia, Mode of inheritance, Morphological abnormality of the central nervous system, Neoplasm, Neoplasm by anatomical site, Neoplasm by histology, Neoplasm of striated muscle, Neoplasm of the central nervous system, Neoplasm of the nervous system, Neurodegeneration, Oral cleft, Otitis media, Phenotypic abnormality, Pneumonia, Primary ovarian failure, Progressive vitiligo, Recurrent bronchitis, Recurrent infections, Recurrent lower respiratory tract infections, Recurrent pneumonia, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Respiratory tract infection, Rhabdomyosarcoma, Sarcoma, Short stature, Sinusitis, Slanting of the palpebral fissure, Sloping forehead, Thrombocytopenia, Upslanted palpebral fissure, Urinary bladder inflammation, Vitiligo.