Abnormal axial skeleton morphology, Abnormal bone structure, Abnormal external genitalia, Abnormal internal genitalia, Abnormality of blood and blood-forming tissues, Abnormality of body height, Abnormality of bone marrow cell morphology, Abnormality of bone mineral density, Abnormality of cellular immune system, Abnormality of central motor function, Abnormality of coordination, Abnormality of dental structure, Abnormality of hair pigmentation, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of leukocytes, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of oral mucosa, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anterior segment of the eye, Abnormality of the anus, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the conjunctiva, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the eyelashes, Abnormality of the eyelid, Abnormality of the face, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the immune system, Abnormality of the integument, Abnormality of the kidney, Abnormality of the lens, Abnormality of the liver, Abnormality of the lower urinary tract, Abnormality of the lung, Abnormality of the male genitalia, Abnormality of the metencephalon, Abnormality of the mouth, Abnormality of the nail, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the optic nerve, Abnormality of the oral cavity, Abnormality of the penis, Abnormality of the periorbital region, Abnormality of the posterior segment of the eye, Abnormality of the preputium, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the sweat gland, Abnormality of the teeth, Abnormality of the testis, Abnormality of the upper urinary tract, Abnormality of the urethra, Abnormality of the urinary system, Abnormal localization of kidneys, Acute leukemia, Acute myeloid leukemia, All, Alopecia, Anal mucosal leukoplakia, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the testes, Ataxia, Blepharitis, Carious teeth, Cataract, Cerebellar hypoplasia, Cerebellar malformation, Cirrhosis, Cognitive impairment, Conjunctivitis, Cryptorchidism, Decreased testicular size, Dermal atrophy, Displacement of the external urethral meatus, Esophageal stenosis, Esophageal stricture, Generalized abnormality of skin, Generalized hypopigmentation of hair, Genital hypoplasia, Gonosomal inheritance, Growth abnormality, Growth delay, Hematological neoplasm, Horseshoe kidney, Hyperhidrosis, Hyperpigmentation of the skin, Hypopigmentation of hair, Hypoplastic genitalia, Hypospadias, Inflammatory abnormality of the eye, Intellectual disability, Leukemia, Localized skin lesion, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Myelodysplasia, Nail dysplasia, Neoplasm, Neoplasm by anatomical site, Neoplasm of the skin, Optic atrophy, Oral leukoplakia, Osteoporosis, Pancytopenia, Phenotypic abnormality, Phimosis, Premature graying of hair, Premature loss of teeth, Prematurely aged appearance, Pterygium formation (nails), Pulmonary fibrosis, Reduced bone mineral density, Restrictive lung disease, Reticulated skin pigmentation, Short stature, Sparse eyelashes, Sparse or absent hair, Split nail, Squamous cell carcinoma, Stomatitis, Strabismus, Urethral stenosis, X-linked inheritance, X-linked recessive inheritance.