Human (64 sources):
Abnormal fingernail morphology,
Abnormal intervertebral disk morphology,
Abnormal palate morphology,
Abnormality of the elbow,
Anteverted nares,
Aplasia/Hypoplasia of the eyebrow,
Atrial septal defect,
Brachydactyly,
Broad neck,
Cafe-au-lait spot,
Carious teeth,
Chiari type I malformation,
Coarctation of aorta,
Craniosynostosis,
Cryptorchidism,
Dandy-Walker malformation,
Deep philtrum,
Delayed skeletal maturation,
Delayed speech and language development,
Dermal translucency,
Downslanted palpebral fissures,
Epicanthus,
Failure to thrive,
Freckling,
Generalized hypotonia,
Global developmental delay,
Hearing impairment,
High palate,
Hydrocephalus,
Hypertelorism,
Hypertrophic cardiomyopathy,
Hypoplastic toenails,
Intellectual disability,
Joint hypermobility,
Low posterior hairline,
Low-set ears,
Low-set, posteriorly rotated ears,
Macrocephaly,
Macrotia,
Mitral regurgitation,
Optic nerve hypoplasia,
Overfolded helix,
Patent ductus arteriosus,
Patent foramen ovale,
Pectus carinatum,
Pectus excavatum,
Peripheral pulmonary artery stenosis,
Posteriorly rotated ears,
Prominent forehead,
Ptosis,
Pulmonic stenosis,
Right bundle branch block,
Short neck,
Short nose,
Short stature,
Slow-growing hair,
Sparse hair,
Sparse scalp hair,
Thick lower lip vermilion,
Thickened helices,
Thin skin,
Thin vermilion border,
Ventricular septal defect,
Webbed neck
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