Phenotypes for disease #01683 (BLM (Bloom syndrome (BLM)), OMIM:210900)

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000301657 best corrected visual acuity: 0.4; electroretinogram , rod: severely reduced, cone: severely reduced - dystrophy, corneoretinal, crystalline, Bietti (BCD) Familial, autosomal recessive 58y - 30y - - LOVD 00409540
0000324426 growth restriction, hypotrophy, facial abnormality - - Familial, autosomal recessive - - - - - Marketa Wayhelova 00434047
0000338872 see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; mild developmental delay; no cancer; no decreased subcutaneous fat; gastroesophageal reflux; no diabetes mellitus; recurrent infections (recurrent otitis media and tonsillitis, leading to tonsillectomy); no malar rash; no dilated cardiomyopathy; congenital dislocation hip, gastrostomy; postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 5m - - - - Johan den Dunnen 00449701
0000338873 see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; no dilated cardiomyopathy; postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 3y - - - - Johan den Dunnen 00449702
0000338874 see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; dilated cardiomyopathy; abnormal movements and tics; postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 8y - - - - Johan den Dunnen 00449703
0000338875 see paper; ..., deceased, ; prenatal-onset growth restriction; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; severe dilated cardiomyopathy (deceased); postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 10y - - - - Johan den Dunnen 00449704
0000338876 see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; no café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; dilated cardiomyopathy (after heart transplant); mitochondrial DNA depletion muscle (0.87); hearing loss, combined malonic and methylmalonic aciduria; postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 15y - - - - Johan den Dunnen 00449705
0000338877 see paper; ..., prenatal-onset growth restriction; café-au-lait macules; mild developmental delay (expressive speech delay); no cancer; no decreased subcutaneous fat; gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; ECG normal; postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 19m - - - - Johan den Dunnen 00449706
0000338878 see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; no café-au-lait macules; no developmental delay; no cancer; decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 3y - - - - Johan den Dunnen 00449707
0000338879 see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; mild developmental delay; no cancer; decreased subcutaneous fat; no diabetes mellitus; no malar rash; dilated cardiomyopathy (asymptomatic), mild left-ventricle dilatation; postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 7y - - - - Johan den Dunnen 00449708
0000338880 see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; recurrent infections; no malar rash; hypertrophic cardiomyopathy; microcytic anemia (due to beta-thalassemia trait); postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 11y - - - - Johan den Dunnen 00449709
0000338881 see paper; ..., prenatal-onset growth restriction; café-au-lait macules; mild developmental delay; no cancer; decreased subcutaneous fat; no diabetes mellitus; recurrent infections (reccurent upper-respiratory-tract infections, oral thrush); no malar rash; no dilated cardiomyopathy; postnatally, weight, height and OFC significantly reduced Bloom Syndrome-like MGRISCE2 Familial, autosomal recessive 4y7m - - - - Johan den Dunnen 00449710
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