Human (101 sources):
Abnormal blistering of the skin,
Abnormal eyebrow morphology,
Abnormal eyelash morphology,
Abnormal fingernail morphology,
Abnormal leukocyte morphology,
Abnormal morphology of female internal genitalia,
Abnormal testis morphology,
Abnormality of coagulation,
Abnormality of metabolism/homeostasis,
Abnormality of neutrophils,
Abnormality of the dentition,
Abnormality of the pharynx,
Anemia,
Anorectal anomaly,
Aplasia/Hypoplasia of the skin,
Aplastic anemia,
Aplastic/hypoplastic toenail,
Ataxia,
Avascular necrosis,
Blepharitis,
Bone marrow hypocellularity,
Carious teeth,
Cataract,
Cellular immunodeficiency,
Cerebellar hypoplasia,
Cerebral calcification,
Cerebral cortical atrophy,
Cirrhosis,
Coarse metaphyseal trabecularization,
Cryptorchidism,
Delayed speech and language development,
Dermal atrophy,
Diabetes mellitus,
Displacement of the urethral meatus,
Dry skin,
Epiphora,
Esophageal stricture,
Excessive wrinkled skin,
Exudative retinopathy,
Failure to thrive,
Fine hair,
Fine, reticulate skin pigmentation,
Generalized hyperpigmentation,
Generalized hypopigmentation of hair,
Global developmental delay,
Growth delay,
Hearing impairment,
Hepatic failure,
Hepatomegaly,
Hyperhidrosis,
Hypermelanotic macule,
Hypodontia,
Hypopigmented skin patches,
Hypoplasia of the maxilla,
Hyporeflexia,
Immunodeficiency,
Intellectual disability,
Intrauterine growth retardation,
Leukocoria,
Leukopenia,
Lymphoma,
Macule,
Malabsorption,
Megalocornea,
Microcephaly,
Nail dysplasia,
Nail dystrophy,
Nail pits,
Neoplasm,
Neoplasm of the pancreas,
Nystagmus,
Oral leukoplakia,
Osteoporosis,
Palmoplantar keratoderma,
Pancytopenia,
Periodontitis,
Premature graying of hair,
Progressive neurologic deterioration,
Psychomotor retardation,
Pulmonary fibrosis,
Recurrent fractures,
Recurrent respiratory infections,
Reticulated skin pigmentation,
Retinopathy,
Ridged fingernail,
Scoliosis,
Short stature,
Skin ulcer,
Skin vesicle,
Sparse hair,
Sparse scalp hair,
Spasticity,
Splenomegaly,
Taurodontia,
Telangiectasia of the skin,
Thrombocytopenia,
Tracheoesophageal fistula,
Urethral stenosis,
Ventriculomegaly,
White hair,
obsolete Hypotrichosis
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