Human (117 sources):
Abnormal bleeding,
Abnormal cardiovascular system morphology,
Abnormal dermatoglyphics,
Abnormal endocardium morphology,
Abnormal facial shape,
Abnormal hair quantity,
Abnormal localization of kidney,
Abnormal mitral valve morphology,
Abnormal platelet function,
Abnormal pulmonary valve morphology,
Abnormal sternum morphology,
Abnormality of coagulation,
Abnormality of neutrophils,
Abnormality of speech or vocalization,
Abnormality of the face,
Abnormality of the genital system,
Abnormality of the lymphatic system,
Abnormality of the pulmonary artery,
Abnormality of the spleen,
Abnormality of the voice,
Aplasia of the semicircular canal,
Aplasia/Hypoplasia of the abdominal wall musculature,
Arrhythmia,
Atrial septal defect,
Atrioventricular canal defect,
Brachycephaly,
Brachydactyly,
Bundle branch block,
Cafe-au-lait spot,
Clinodactyly of the 5th finger,
Coarse hair,
Cryptorchidism,
Cubitus valgus,
Curly hair,
Cystic hygroma,
Decreased fertility,
Delayed skeletal maturation,
Depressed nasal bridge,
Dilated cardiomyopathy,
Dolichocephaly,
Downslanted palpebral fissures,
Dry skin,
Dysarthria,
EMG abnormality,
Elevated circulating creatine kinase concentration,
Enlarged thorax,
Epicanthus,
Excessive wrinkled skin,
Feeding difficulties in infancy,
Freckling,
Global developmental delay,
Growth delay,
Hepatomegaly,
High forehead,
High palate,
Hyperextensible skin,
Hypertelorism,
Hypertrophic cardiomyopathy,
Hypogonadotropic hypogonadism,
Hypospadias,
Hypotonia,
Intellectual disability,
Intellectual disability, mild,
Intrauterine growth retardation,
Lipoatrophy,
Low posterior hairline,
Low-set ears,
Low-set, posteriorly rotated ears,
Lymphedema,
Macrocephaly,
Mandibular prognathia,
Melanocytic nevus,
Melanoma,
Micrognathia,
Midface retrusion,
Mitral regurgitation,
Mitral valve prolapse,
Multiple lentigines,
Muscle weakness,
Myelodysplasia,
Myocardial infarction,
Myopathy,
Neuroblastoma,
Nevus,
Nystagmus,
Palmoplantar keratoderma,
Pectus carinatum,
Pectus excavatum,
Polyhydramnios,
Prominent forehead,
Proptosis,
Ptosis,
Pulmonary artery stenosis,
Pulmonic stenosis,
Radioulnar synostosis,
Scapular winging,
Scoliosis,
Sensorineural hearing impairment,
Severe sensorineural hearing impairment,
Short neck,
Short stature,
Spina bifida occulta,
Sprengel anomaly,
Strabismus,
Subcutaneous nodule,
Thick lower lip vermilion,
Thick vermilion border,
Thickened helices,
Thickened nuchal skin fold,
Triangular face,
Vascular dilatation,
Ventricular arrhythmia,
Webbed neck,
Wide intermamillary distance,
Wide mouth,
Wide nasal bridge,
obsolete Joint hyperflexibility
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