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| Ciliary body melanoma
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| Choroidal melanoma
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| Superficial spreading melanoma
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| Cutaneous melanoma
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| Reactive hypoglycemia
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| Anasarca
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| Low serum calcifediol (25-hydroxycholecalciferol)
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| Amegakaryocytic thrombocytopenia
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| Normochromic microcytic anemia
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| Hyperchromic macrocytic anemia
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| Intermittent thrombocytopenia
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| Reduced protein S activity
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| Reduced leukocyte alkaline phosphatase
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| Nodular melanoma
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| Recurrent deep vein thrombosis
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| Folate-responsive megaloblastic anemia
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| Pseudoepiphysis of the middle phalanx of the 4th toe
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| Shoulder dystocia
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| Disproportionate short stature
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| Abnormality of brain morphology
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| Increased IgM level
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| GM2-ganglioside accumulation
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| Loss of heterozygosity, multiple chromosomes
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| Antinuclear antibody positivity
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| High urinary gonadotropins (primary hypogonadism)
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| Elevated urine pyrophosphate
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| Defective dehydrogenation of isovaleryl CoA and butyryl CoA
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| Hypoplastic right heart
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| Proximal lower limb amyotrophy
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| Dilatation of the bladder
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| Progressive distal muscular atrophy
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| Pigment deposition in the trabecular meshwork
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| Abnormality of the trabecular meshwork
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| Asymmetry of intraocular pressure
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| Intrinsic hand muscle atrophy
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| Iris hypoperfusion
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| Iris pigment dispersion
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| Renal calcium wasting
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| Retinal vein occlusion
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| Abnormality of nervous system morphology
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| Thyroid follicular hyperplasia
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| Bilateral renal agenesis
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| Shoulder muscle hypoplasia
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| Euthyroid hyperthyroxinemia
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| Abnormality of the extrinsic pathway
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| Pituitary hypothyroidism
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| Congenital adrenal hypoplasia
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| Testicular dysgenesis
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| Pseudohypoaldosteronism
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| Unilateral renal atrophy
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| Secondary growth hormone deficiency
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| Hypolipoproteinemia
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| Unilateral renal dysplasia
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| Oligogenic inheritance
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| Polygenic inheritance
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| Gonosomal inheritance
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| Digenic inheritance
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| Thyroid hyperplasia
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| Thyroid lymphangiectasia
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| Laterally extended eyebrow
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| Prominent eyelashes
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| Infra-orbital fold
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| Antihelical shelf
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| Absent antihelix
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| Additional crus of antihelix
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| Angulated antihelix
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| Lack of spontaneous play
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| Prominent inferior crus of antihelix
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| Underdeveloped inferior crus of antihelix
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| Radially deviated terminal index finger phalanx
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| Duplication of terminal index finger phalanx
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| Fragmentation of the epiphyses of the 4th finger
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| Duplication of phalanx of toe
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| Triangular shaped phalanges of the toes
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| Abnormality of the middle phalanges of the toes
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| Abnormality of the distal phalanges of the toes
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| Aplasia/Hypoplasia of the distal phalanges of the toes
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| Abnormality of toe proximal phalanx
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| Bullet-shaped distal toe phalanx
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| Autistic behavior
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| Osteolytic defects of the distal phalanges of the toes
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| Curved distal toe phalanx
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| Short mandibular rami
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| Focal T2 hyperintense brainstem lesion
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| Cervical aortic arch
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| Common origin of the right brachiocephalic artery and left common carotid artery
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| Thoracoabdominal ectopia cordis
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| Abnormal branching pattern of the aortic arch
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| Abnormality of the intrinsic pathway
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| Thoracic ectopia cordis
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| Abdominal ectopia cordis
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| Cervical ectopia cordis
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| Short chordae tendineae of the mitral valve
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| Double outlet left ventricle
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| Short palpebral fissure
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| Femoral aplasia
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| Antegonial notching of mandible
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| Abnormal brainstem MRI signal intensity
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| Thin toenail
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| Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
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