-
| Partial hyposmia
-
| Total hyposmia
-
| Abnormality of globe location or size
-
| Retinopathy
-
| Dry skin
-
| Cafe-au-lait spot
-
| Acanthosis nigricans
-
| Congenital strabismus
-
| Strabismus
-
| Abnormality of the cornea
-
| Jaundice
-
| Abnormality of the skin
-
| Microcornea
-
| arthralgia/arthritis
-
| Hypercortisolism
-
| Primary hypercorticolism
-
| Macrodontia
-
| Anterolateral radial head dislocation
-
| Multiple impacted teeth
-
| Metaphyseal spurs
-
| Abnormality of the integument
-
| Mood changes
-
| Coarctation of aorta
-
| Angina pectoris
-
| Subaortic stenosis
-
| Ectopia cordis
-
| Secundum atrial septal defect
-
| Myocardial fibrosis
-
| Loss of voice
-
| Sinus bradycardia
-
| Iron accumulation in substantia nigra
-
| Calcium oxalate nephrolithiasis
-
| High posterior hairline
-
| Posteriorly placed anus
-
| Neck muscle hypertrophy
-
| Copper accumulation in brain
-
| Scapular muscle hypertrophy
-
| Paraspinal muscle hypertrophy
-
| Absent epiphysis of the distal phalanx of the 4th toe
-
| Fragmented epiphyses
-
| Abnormal upper-limb motor evoked potentials
-
| Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe
-
| Enlarged epiphysis of the proximal phalanx of the 3rd toe
-
| Ivory epiphysis of the proximal phalanx of the 3rd toe
-
| Abnormal motor evoked potentials
-
| Small epiphysis of the proximal phalanx of the 3rd toe
-
| Pseudoepiphysis of the proximal phalanx of the 3rd toe
-
| Triangular epiphysis of the proximal phalanx of the 3rd toe
-
| Stippling of the epiphysis of the proximal phalanx of the 3rd toe
-
| Abnormality of tibial epiphyses
-
| Diverticulosis of trachea
-
| Aplasia/Hypoplasia involving the carpal bones
-
| Aplasia/hypoplasia involving forearm bones
-
| Abnormality involving the epiphyses of the lower limbs
-
| Aplasia/Hypoplasia of the radius
-
| Aplasia/hypoplasia of the humerus
-
| Anomaly of the limb diaphyses
-
| Abnormality involving the epiphyses of the limbs
-
| Migraine without aura
-
| Intention tremor
-
| Abnormality of the upper respiratory tract
-
| Abnormality of the respiratory system
-
| Occipital encephalocele
-
| Encephalocele
-
| Pulmonary hypoplasia
-
| Abnormality of the lung
-
| Dysmorphic inferior cerebellar vermis
-
| Bacteriuria
-
| Chin myoclonus
-
| Elevated transferrin saturation
-
| Decreased transferrin saturation
-
| Elevated hepatic iron concentration
-
| Chronic respiratory acidosis
-
| Acute respiratory acidosis
-
| Chronic acidosis
-
| Infantile spasms
-
| Abnormal peripheral myelination
-
| Prolonged somatosensory evoked potentials
-
| Segmental peripheral demyelination
-
| Abnormality of the spinocerebellar tracts
-
| Abnormality of peripheral nerve conduction
-
| Progressive ventriculomegaly
-
| Hypointensity of cerebral white matter on MRI
-
| Prolinuria
-
| Increased blood urea nitrogen (BUN)
-
| Panhypogammaglobulinemia
-
| Periventricular cysts
-
| Demyelinating peripheral neuropathy
-
| Aplasia of the testes
-
| Right aortic arch with mirror image branching
-
| Venous varicosities of celiac and mesenteric vessels
-
| Deep venous thrombosis
-
| Venous abnormality
-
| Overriding aorta
-
| Dissecting aortic aneurysm
-
| Atherosclerosis
-
| Gastrointestinal arteriovenous malformation
-
| Progressive macrocephaly
-
| Expanded metatarsals with widened medullary cavities
-
| Relative macrocephaly
Handlinger tilknyttet webside