Human (88 sources):
Abnormal cardiovascular system morphology,
Abnormal epiphysis morphology,
Abnormal form of the vertebral bodies,
Abnormality of eye movement,
Abnormality of the wrist,
Abnormal pupil morphology,
Abnormal vertebral segmentation and fusion,
Absent radius,
Amblyopia,
Aniridia,
Ankle swelling,
Anorectal anomaly,
Anteverted nares,
Aplasia/Hypoplasia of the thumb,
Arthralgia,
Blepharophimosis,
Blepharospasm,
Brachydactyly,
Cachexia,
Camptodactyly,
Camptodactyly of finger,
Carpal osteolysis,
Central heterochromia,
Chorioretinal coloboma,
Cleft palate,
Deeply set eye,
Downturned corners of mouth,
Ectopic kidney,
EMG abnormality,
Everted lower lip vermilion,
Facial asymmetry,
Gait disturbance,
Global developmental delay,
Hearing impairment,
Hypertension,
Hypopigmented skin patches,
Hypoplasia of the maxilla,
Hypoplasia of the radius,
Hypoplastic iris stroma,
Impaired ocular abduction,
Impaired ocular adduction,
Iris coloboma,
Irregular hyperpigmentation,
Limitation of joint mobility,
Low posterior hairline,
Metacarpal osteolysis,
Metatarsal osteolysis,
Microcephaly,
Microcornea,
Micrognathia,
Narrow internal auditory canal,
Nephropathy,
Nystagmus,
obsolete External ear malformation,
Oculomotor nerve palsy,
Optic disc hypoplasia,
Osteolysis,
Osteolysis involving tarsal bones,
Osteopenia,
Palpebral fissure narrowing on adduction,
Patchy hypopigmentation of hair,
Pes cavus,
Plagiocephaly,
Polyhydramnios,
Preauricular skin tag,
Preaxial hand polydactyly,
Proptosis,
Proteinuria,
Ptosis,
Renal insufficiency,
Seizure,
Sensorineural hearing impairment,
Short neck,
Short palpebral fissure,
Skeletal muscle atrophy,
Slender long bone,
Spina bifida occulta,
Stenosis of the external auditory canal,
Strabismus,
Talipes equinovarus,
Telecanthus,
Triangular face,
Triphalangeal thumb,
Ulnar deviation of the hand,
Ulnar deviation of the hand or of fingers of the hand,
Webbed neck,
Wide nasal bridge,
Wrist swelling
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