Human (116 sources):
Abnormal antihelix morphology,
Abnormal cardiovascular system morphology,
Abnormal form of the vertebral bodies,
Abnormal hair pattern,
Abnormal heart morphology,
Abnormality of eye movement,
Abnormal nasolacrimal system morphology,
Abnormal pelvic girdle bone morphology,
Abnormal skull morphology,
Absent first metatarsal,
Amblyopia,
Anal atresia,
Arachnodactyly,
Asplenia,
Bilateral cryptorchidism,
Bilateral single transverse palmar creases,
Blepharospasm,
Brachycephaly,
Brachydactyly,
Breast carcinoma,
Broad forehead,
Broad hallux,
Broad neck,
Broad thumb,
Buphthalmos,
Cerebellar hypoplasia,
Choanal atresia,
Cleft of chin,
Cleft palate,
Clinodactyly of the 5th finger,
Conductive hearing impairment,
Convex nasal ridge,
Coronal craniosynostosis,
Craniosynostosis,
Cryptorchidism,
Cupped ear,
Cutaneous syndactyly,
Delayed cranial suture closure,
Depressed nasal bridge,
Dolichocephaly,
Duplication of phalanx of hallux,
Epicanthus,
Facial asymmetry,
Finger syndactyly,
Flat face,
Flat forehead,
Frontal bossing,
Gastroesophageal reflux,
Generalized hirsutism,
Global developmental delay,
Hallux valgus,
Hearing impairment,
High forehead,
High palate,
Hyperlordosis,
Hypertelorism,
Hypoplasia of the maxilla,
Hypotelorism,
Increased intracranial pressure,
Intellectual disability,
Intellectual disability, moderate,
Lambdoidal craniosynostosis,
Long nose,
Low anterior hairline,
Low-set ears,
Macrocephaly,
Malar flattening,
Metacarpal synostosis,
Micrognathia,
Microtia,
Midface retrusion,
Migraine,
Narrow internal auditory canal,
Narrow mouth,
Narrow nose,
Narrow palate,
obsolete External ear malformation,
Open bite,
Optic atrophy,
Overfolded helix,
Oxycephaly,
Parietal foramina,
Partial duplication of the distal phalanx of the 2nd finger,
Partial duplication of the distal phalanx of the 3rd finger,
Plagiocephaly,
Prominent crus of helix,
Prominent metopic ridge,
Prominent nasal bridge,
Prominent occiput,
Proptosis,
Proximal radio-ulnar synostosis,
Ptosis,
Radioulnar synostosis,
Scaphocephaly,
Scoliosis,
Seizure,
Sensorineural hearing impairment,
Shallow orbits,
Short clavicles,
Short columella,
Short philtrum,
Short stature,
Skull asymmetry,
Sleep apnea,
Strabismus,
Syndactyly,
Toe syndactyly,
Triphalangeal thumb,
Turricephaly,
Underdeveloped nasal alae,
Underdeveloped supraorbital ridges,
Upper eyelid coloboma,
Visual field defect,
Wide anterior fontanel,
Wide nasal bridge,
Widow's peak
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