-
| EMG
-
| EMG
-
| Progressive spastic paraparesis
-
| Crohn's disease
-
| Chronic colitis
-
| Acute colitis
-
| EMG
-
| Premature loss of primary teeth
-
| Coarctation of the descending aortic arch
-
| Multiple non-erupting secondary teeth
-
| Buried teeth encased in mucopolysaccharide
-
| Spatulate ribs
-
| Bilateral cleft palate
-
| Type II transferrin isoform profile
-
| Elevated urinary epinephrine
-
| Abnormality of the aortic arch
-
| Small epiphysis of the distal phalanx of the 2nd toe
-
| Lattice retinal degeneration
-
| Malformed lacrimal ducts
-
| Hypoplastic iris stroma
-
| Proximal muscle weakness in lower limbs
-
| Reduced 4-Hydroxyphenylpyruvate dioxygenase activity
-
| Loss of subcutaneous adipose tissue in limbs
-
| Generalized amyoplasia
-
| Patchy sclerosis of middle phalanx of finger
-
| Symphalangism of middle phalanx of finger
-
| Aplasia/Hypoplasia of the middle phalanges of the hand
-
| Patchy sclerosis of distal phalanx of finger
-
| Curved middle phalanges of the hand
-
| Osteolytic defects of the middle phalanges of the hand
-
| Broad middle phalanx of finger
-
| Bullet-shaped middle phalanges of the hand
-
| Pectoralis hypoplasia
-
| Descending aortic dissection
-
| Nuchal cord
-
| Tufted angioma
-
| Cementoma
-
| Celiac artery compression
-
| Cutaneous amyloidosis
-
| Chronic myelomonocytic leukemia
-
| Myeloid leukemia
-
| Sleep myoclonus
-
| Perifolliculitis
-
| D-2-hydroxyglutaric aciduria
-
| Decreased serum complement C9
-
| Generalized arterial calcification
-
| Extrahepatic portal hypertension
-
| Aortic aneurysm
-
| Accelerated atherosclerosis
-
| Cerebral aneurysm
-
| Extracranial internal carotid artery dissection
-
| Arteriovenous fistula
-
| Vascular tortuosity
-
| Ankle clonus
-
| Delayed ossification of carpal bones
-
| Epidermal thickening
-
| Mongolian blue spot
-
| Hammertoe
-
| Abnormal hair quantity
-
| Abnormality of hair growth rate
-
| Acquired abnormal hair pattern
-
| Congenital abnormal hair pattern
-
| Yellow nails
-
| White hair
-
| Patchy hypopigmentation of hair
-
| Bilineage myelodysplasia
-
| Multiple lineage myelodysplasia
-
| Abnormality of cells of the megakaryocyte lineage
-
| Pancreatic squamous cell carcinoma
-
| Abnormality of cells of the lymphoid lineage
-
| Reduced quantity of Von Willebrand factor
-
| Abnormality of von Willebrand factor
-
| Abnormality of multiple cell lineages in the bone marrow
-
| Abnormality of cells of the monocyte/macrophage lineage
-
| Agranulocytosis
-
| Abnormality of nitrogen compound homeostasis
-
| Abnormality of tryptophan metabolism
-
| Abnormality of glycolysis
-
| Abnormality of glycoprotein metabolism
-
| Abnormality of acid-base homeostasis
-
| Abnormality of circulating leptin level
-
| Abnormality of the enteric ganglia
-
| Abnormality of calcium homeostasis
-
| Abnormality of aspartate family amino acid metabolism
-
| Abnormality of sarcosine metabolism
-
| Increased purine levels
-
| Decreased purine levels
-
| Pes planus
-
| Abnormality of peripheral somatosensory evoked potentials
-
| Unilateral vestibular Schwannoma
-
| Abnormality of the vestibulocochlear nerve
-
| Astrocytoma
-
| Peripheral Schwannoma
-
| Retinal hamartoma
-
| Occasional neurofibromas
-
| Aplasia of the proximal phalanx of the 2nd finger
-
| Short proximal phalanx of the 2nd finger
-
| Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal
-
| Abnormality of thumb epiphysis
-
| Talipes equinovarus
Handlinger tilknyttet webside