-
| Carnosinuria
-
| Increased urinary taurine
-
| Elevated circulating parathyroid hormone (PTH) level
-
| Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency
-
| Elevated urinary delta-aminolevulinic acid
-
| Acute demyelinating polyneuropathy
-
| 4-Hydroxyphenylpyruvic aciduria
-
| Abnormal isoelectric focusing of serum transferrin
-
| Cheekbone prominence
-
| Palmar hyperhidrosis
-
| 1-5 finger complete cutaneous syndactyly
-
| Thin metacarpal cortices
-
| Focal seizures
-
| Ovoid thoracolumbar vertebrae
-
| Cervical subluxation
-
| Abnormal enzyme/coenzyme activity
-
| Hyperreflexia in upper limbs
-
| Spondylolisthesis
-
| Cerebellar calcifications
-
| Ovoid vertebral bodies
-
| Amyotrophic lateral sclerosis
-
| Spinal rigidity
-
| Block vertebrae
-
| Spondylolysis
-
| Intellectual disability, progressive
-
| Impaired distal vibration sensation
-
| Severe hydrocephalus
-
| Diffuse peripheral demyelination
-
| Cerebellar hemangioblastoma
-
| Microprolactinoma
-
| Pituitary thyrotropic cell adenoma
-
| Decreased serum ferritin
-
| Macroprolactinoma
-
| Abnormal glycosylation
-
| Morphea
-
| Intellectual disability, borderline
-
| Meningoencephalocele
-
| Hyperapobetalipoproteinemia
-
| Mucopolysacchariduria
-
| Periodic hypokalemic paresis
-
| Prolonged prothrombin time
-
| Elevated serum transaminases during infections
-
| Broad phalanges of the 3rd toe
-
| Underdeveloped supraorbital ridges
-
| Sclerosis of the proximal phalanx of the hallux
-
| Puberty and gonadal disorders
-
| Abnormality of vitamin A metabolism
-
| Abnormal metatarsal ossification
-
| Nasal, dysarthic speech
-
| Abnormality of the endocardium
-
| Abnormal anatomic location of the heart
-
| Involuntary movements
-
| Functional motor problems.
-
| Abnormality of muscle fibers
-
| Cervical vertebral bodies with decreased anteroposterior diameter
-
| Asymmetry of spinal facet joints
-
| Spondylolisthesis at L5-S1
-
| Anterior rounding of vertebral bodies
-
| Ventricular arrhythmia
-
| Ventricular preexcitation
-
| Abnormal tendon morphology
-
| Cone-shaped epiphysis of the thumb
-
| Enlarged thumb epiphysis
-
| Irregular epiphysis of the distal phalanx of the thumb
-
| Ivory epiphysis of the distal phalanx of the thumb
-
| Pseudoepiphysis of the distal phalanx of the thumb
-
| Small epiphysis of the distal phalanx of the thumb
-
| Stippling of the epiphysis of the distal phalanx of the thumb
-
| Triangular epiphysis of the distal phalanx of the thumb
-
| Absent epiphyses of the thumb
-
| Bracket epiphyses of the thumb
-
| Triangular epiphysis of the proximal phalanx of the 3rd finger
-
| Abnormality of the distal phalanx of the 3rd finger
-
| Small epiphysis of the proximal phalanx of the 3rd finger
-
| Stippling of the epiphysis of the proximal phalanx of the 3rd finger
-
| Ivory epiphysis of the proximal phalanx of the 3rd finger
-
| Pseudoepiphysis of the proximal phalanx of the 3rd finger
-
| Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger
-
| Irregular epiphysis of the proximal phalanx of the 3rd finger
-
| Curved distal phalanx of the 3rd finger
-
| Aplasia of the distal phalanx of the 3rd finger
-
| Abnormality of the proximal phalanx of the 3rd finger
-
| Duplication of the 1st metatarsal
-
| Triangular shaped 1st metatarsal
-
| Broad distal phalanx of the hallux
-
| Aplasia/Hypoplasia of the distal phalanx of the hallux
-
| Osteolytic defects of the 1st metatarsal
-
| Curved 1st metatarsal
-
| Synostosis involving the 1st metatarsal
-
| Patchy sclerosis of the 1st metatarsal
-
| Curved distal phalanx of the hallux
-
| Bullet-shaped distal phalanx of the hallux
-
| Sick sinus syndrome
-
| Optic nerve dysplasia
-
| Second degree atrioventricular block
-
| Mobitz I atrioventricular block
-
| Automatic atrial tachycardia
-
| Multifocal atrial tachycardia
-
| Abnormal electrophysiology of sinoatrial node origin
-
| Sinus tachycardia
Handlinger tilknyttet webside