-
| Pulmonary edema
-
| Diphallia
-
| Hypoplasia of the calcaneus
-
| Reticulate pigmentation of oral mucosa
-
| Frontal cortical atrophy
-
| Inability to walk by childhood/adolescence
-
| Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
-
| Abnormal aggressive, impulsive or violent behavior
-
| Diffuse cerebral sclerosis
-
| Intralobar nephrogenic rest
-
| Perilobar nephrogenic rest
-
| Flexion contracture of finger
-
| Perinephritis
-
| Recurrent pyelonephritis
-
| Recurrent cystitis
-
| Abnormality of myeloid leukocytes
-
| Fibular hypoplasia
-
| Inferior vermis hypoplasia
-
| Profound static encephalopathy
-
| Ulnar bowing
-
| Distal peripheral sensory neuropathy
-
| Progressive language deterioration
-
| Disorganization of the anterior cerebellar vermis
-
| Diaphyseal sclerosis
-
| Enlarged joints
-
| Rickets
-
| Osteomalacia
-
| Recurrent E. coli infections
-
| Recurrent Serratia marcescens infections
-
| Recurrent Klebsiella infections
-
| Recurrent enteroviral infections
-
| Bilateral cleft lip and palate
-
| Oral leukoplakia
-
| Respiratory insufficiency due to muscle weakness
-
| Abnormal spermatogenesis
-
| Gonadal dysgenesis, male
-
| Beaking of vertebral bodies
-
| Papilloma
-
| Moderately short stature
-
| Beaking of vertebral bodies T12-L3
-
| increased spinal bone density
-
| Renal sarcoma
-
| Severe intrauterine growth retardation
-
| Pear-shaped vertebrae
-
| Urethral sphincter sclerosis
-
| Hip osteoarthritis
-
| Severe platyspondyly
-
| Abnormal bone structure
-
| Enlarged cerebellum
-
| Impaired FSH and LH secretion
-
| Non-midline cleft lip
-
| Hyperlysinuria
-
| Hyperthreoninuria
-
| Decreased serum leptin
-
| Non-midline cleft palate
-
| Spina bifida occulta
-
| Anisopoikilocytosis
-
| Abnormal urinary odor
-
| Triangular epiphyses of the 5th toe
-
| Arteritis
-
| Fragmentation of the epiphyses of the 5th toe
-
| Prolonged QT interval
-
| Synostosis involving bones of the lower limbs
-
| Osteolysis involving bones of the lower limbs
-
| Abnormal tarsal bone mineral density
-
| Hand muscle atrophy
-
| Abnormality of the musculature of the thorax
-
| Duplication involving bones of the feet
-
| Patent foramen ovale
-
| Osteolysis involving bones of the feet
-
| Abnormality of the heart valves
-
| Mitral regurgitation
-
| Dense deposit disease
-
| Abnormality of the renal collecting system
-
| Chronic tubulointerstitial nephritis
-
| Aortic valve stenosis
-
| Atrial flutter
-
| Hemiatrophy of lower limb
-
| Single isolated congenital hypertrophy of retinal pigment epithelium
-
| Multiple bilateral congenital hypertrophy of retinal pigment epithelium
-
| Deuteranomoly
-
| Deuteranopia
-
| Protanopia
-
| Iris cyst
-
| Iris melanoma
-
| Iris nevus
-
| Abnormality of lens shape
-
| Lentiglobus
-
| Myocardial infarction
-
| Broad proximal phalanx of the 2nd finger
-
| Abnormality of cation homeostasis
-
| Abnormality of orotic acid metabolism
-
| Anterior subcapsular cataract
-
| Membranous cataract
-
| Coralliform cataract
-
| Zonular cataract
-
| Abnormality of divalent inorganic cation homeostasis
-
| Aculeiform cataract
-
| Nuclear punctate cataract
-
| Posterior cortical cataract
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