Human (65 sources):
Abnormal facial shape,
Abnormality of primary teeth,
Abnormality of skin pigmentation,
Absent earlobe,
Accelerated skeletal maturation,
Aortic valve stenosis,
Arachnodactyly,
Atrophic scars,
Atypical scarring of skin,
Bifid uvula,
Blue sclerae,
Bowing of the long bones,
Cleft palate,
Coxa valga,
Cryptorchidism,
Cutis laxa,
Epicanthus,
Failure to thrive,
Flat forehead,
Flexion contracture,
Generalized hypotonia,
Genu recurvatum,
Gingivitis,
Global developmental delay,
Growth delay,
Hyperextensible skin,
Hypertelorism,
Hypotonia,
Kyphoscoliosis,
Lipodystrophy,
Long toe,
Low-set ears,
Macrocephaly,
Midface retrusion,
Mild global developmental delay,
Narrow chest,
Narrow mouth,
obsolete Joint hyperflexibility,
obsolete Joint laxity,
obsolete Sparse and thin eyebrow,
Osteopenia,
Palmoplantar cutis gyrata,
Pectus carinatum,
Pes planus,
Phalangeal dislocation,
Progeroid facial appearance,
Proptosis,
Pulmonic stenosis,
Radioulnar synostosis,
Scoliosis,
Short clavicles,
Short stature,
Single transverse palmar crease,
Skeletal dysplasia,
Skeletal muscle atrophy,
Slender toe,
Small face,
Sparse eyelashes,
Sparse scalp hair,
Talipes equinovalgus,
Talipes equinovarus,
Telecanthus,
Testicular torsion,
Thin skin,
Wide nasal bridge
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