Human (74 sources):
Abnormal blistering of the skin,
Abnormal eyebrow morphology,
Abnormal eyelash morphology,
Abnormal fingernail morphology,
Abnormal morphology of female internal genitalia,
Abnormal testis morphology,
Abnormality of coagulation,
Abnormality of neutrophils,
Abnormality of the dentition,
Abnormality of the pharynx,
Anemia,
Anorectal anomaly,
Aplasia/Hypoplasia of the skin,
Aplastic/hypoplastic toenail,
Avascular necrosis,
Blepharitis,
Bone marrow hypocellularity,
Carious teeth,
Cataract,
Cellular immunodeficiency,
Cerebral calcification,
Cirrhosis,
Coarse metaphyseal trabecularization,
Conjunctivitis,
Diabetes mellitus,
Displacement of the urethral meatus,
Elevated circulating creatine kinase concentration,
Esophageal stricture,
Global developmental delay,
Hearing impairment,
Hepatic failure,
Hepatomegaly,
Hyperhidrosis,
Hypermelanotic macule,
Hypertelorism,
Hypodontia,
Hypopigmented skin patches,
Hypoplasia of the maxilla,
Increased circulating lactate dehydrogenase concentration,
Intrauterine growth retardation,
Lymphoma,
Macule,
Malabsorption,
Malar flattening,
Midface retrusion,
Nail dystrophy,
Neoplasm,
Neoplasm of the pancreas,
Neutropenia,
Oral leukoplakia,
Osteoporosis,
Palmoplantar keratoderma,
Periodontitis,
Plantar hyperkeratosis,
Poikiloderma,
Premature graying of hair,
Recurrent fractures,
Recurrent otitis media,
Recurrent pneumonia,
Recurrent respiratory infections,
Recurrent sinusitis,
Scoliosis,
Short stature,
Skin ulcer,
Skin vesicle,
Sparse hair,
Splenomegaly,
Taurodontia,
Telangiectasia of the skin,
Thrombocytopenia,
Tracheoesophageal fistula,
Urethral stenosis,
White hair,
obsolete Hypotrichosis
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