Phenotypes for disease #02247 (MPS-2 (mucopolysaccharidosis, type II (MPS-2, Hunter syndrome)), OMIM:309900)

368 entries on 4 pages. Showing entries 1 - 100.
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Phenotype details     

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Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000060413 Mucopolysaccharidosis II (OMIM:309900) - - Familial, X-linked - - - - - Daniel Trujillano 00080844
0000078605 see paper; ..., coarse facial features, hepatomegaly (6 cm), splenomegaly (6 cm), elbowstiffness, hypospadias; dilatation perivascular spaces and white matter abnormalities, mitral regurgitation - - Familial, X-linked 03y 00y07m - family hostory - Johan den Dunnen 00100412
0000078606 - - - Familial, X-linked recessive - - - - - - 00100282
0000082836 Clinical and biochemical MPS II. - - Isolated (sporadic) - - - - - Isabella Rau 00104941
0000082844 - - - Familial, X-linked recessive - - - - - Isabella Rau 00104940
0000089844 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114362
0000089845 Mild MPSII phenotype - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114363
0000089846 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114364
0000089847 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114365
0000089848 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114366
0000089849 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114367
0000089850 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114368
0000089851 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114369
0000089852 Mild mental retardation; intellectual disability - - Familial, X-linked recessive 01y08m - 01y - - Miguel Angel Alcántara-Ortigoza 00114370
0000089853 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114371
0000089854 Mild MPSII phenotype - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114372
0000089855 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114373
0000089856 severe - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114374
0000089857 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114375
0000089858 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114376
0000089859 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114377
0000089860 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114378
0000089861 severe - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114379
0000089862 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114380
0000089863 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114381
0000089864 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114382
0000089865 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114383
0000089866 mild Hunter syndrome phenotype - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114384
0000089867 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114385
0000089868 - - - Familial, X-linked recessive - - - - - Miguel Angel Alcántara-Ortigoza 00114386
0000089869 mild-intermediate - - Unknown - - - - - Johan den Dunnen 00114387
0000089870 - - - Unknown 04y - - - - Janell Kierstein 00114388
0000089871 severe; never achieved bladder/bowel control, chronic diarrhea, limited speech, developmental delay - - Isolated (sporadic) 08y05m - - - - Johan den Dunnen 00114389
0000089872 very severe; early onset of seizures, never attained speech; intellectual disability - - Unknown - - - - - Johan den Dunnen 00114390
0000089873 very severe; ptosis, never attained speech; intellectual disability - - Unknown - - - - - Johan den Dunnen 00114391
0000089874 - - - Unknown - - - - - Johan den Dunnen 00114392
0000089875 - - - Unknown - - - - - Johan den Dunnen 00114393
0000089876 - - - Unknown - - - - - Johan den Dunnen 00114394
0000089877 - - - Unknown - - - - - Johan den Dunnen 00114395
0000089878 - - - Unknown - - - - - Johan den Dunnen 00114396
0000089879 - - - Unknown - - - - - Johan den Dunnen 00114397
0000089880 - - - Unknown - - - - - Johan den Dunnen 00114398
0000089881 severe; epileptic seizures - - Unknown - - - - - Johan den Dunnen 00114399
0000089882 severe; MRI unusual cortical atrophy, demyelinization frontal/occipital areas - - Unknown 04y - - - - Johan den Dunnen 00114400
0000089883 severe - - Unknown - - - - - Johan den Dunnen 00114401
0000089884 severe - - Unknown - - - - - Johan den Dunnen 00114402
0000089885 - - - Unknown - - - - - Yu Sun 00114403
0000089886 severe - - Unknown - - - - - Johan den Dunnen 00114404
0000089887 clinical features typical severe Hunter disease; MPS-II diagnosis assessed by high excretion HS/DS urine, IDS-deficiency leukocytes/fibroblasts - - Unknown - - - - - Johan den Dunnen 00114405
0000089888 - - - Familial, X-linked - - - - - Johan den Dunnen 00114406
0000089889 severe - - Unknown - - - - - Johan den Dunnen 00114407
0000089890 severe - - Unknown - - - - - Johan den Dunnen 00114408
0000089891 severe - - Unknown - - - - - Johan den Dunnen 00114409
0000089892 severe - - Unknown - - - - - Johan den Dunnen 00114410
0000089893 severe - - Unknown - - - - - Johan den Dunnen 00114411
0000089894 severe - - Unknown - - - - - Johan den Dunnen 00114412
0000089895 severe - - Unknown - - - - - Johan den Dunnen 00114413
0000089896 severe - - Unknown - - - - - Johan den Dunnen 00114414
0000089897 severe - - Unknown - - - - - Johan den Dunnen 00114415
0000089898 severe - - Unknown - - - - - Yu Sun 00114416
0000089899 - - - Unknown - - - - - Johan den Dunnen 00114417
0000089900 - - - Unknown - - - - - Johan den Dunnen 00114418
0000089901 - - - Unknown - - - - - Johan den Dunnen 00114419
0000089902 - - - Unknown - - - - - Johan den Dunnen 00114420
0000089903 intermediate; developmental delay, recurrent respiratory infections, mild dysmorphisms; abnormal urinary glycosaminoglycans, IDS deficiency leukocytes - - Unknown - - - - - Johan den Dunnen 00114421
0000089904 severe - - Unknown - - - - - Johan den Dunnen 00114422
0000089905 - - - Unknown - - - - - Johan den Dunnen 00114423
0000089906 - - - Unknown - - - - - Johan den Dunnen 00114424
0000089907 severe - - Unknown - - - - - Johan den Dunnen 00114425
0000089908 severe - - Unknown - - - - - Johan den Dunnen 00114426
0000089909 severe - - Unknown - - - - - Johan den Dunnen 00114427
0000089910 severe - - Unknown - - - - - Johan den Dunnen 00114428
0000089911 - - - Unknown - - - - - Johan den Dunnen 00114429
0000089912 - - - Unknown - - - - - Johan den Dunnen 00114430
0000089913 - - - Unknown - - - - - Johan den Dunnen 00114431
0000089914 - - - Unknown - - - - - Johan den Dunnen 00114432
0000089915 - - - Unknown - - - - - Johan den Dunnen 00114433
0000089916 - - - Unknown - - - - - Johan den Dunnen 00114434
0000089917 - - - Unknown - - - - - Johan den Dunnen 00114435
0000089918 - - - Unknown - - - - - Johan den Dunnen 00114436
0000089919 - - - Unknown - - - - - Johan den Dunnen 00114437
0000089920 mild - - Unknown - - - - - Johan den Dunnen 00114438
0000089921 - - - Unknown - - - - - Johan den Dunnen 00114439
0000089922 mild - - Unknown 11y - - - - Johan den Dunnen 00114440
0000089923 mild - - Unknown 10y - - - - Johan den Dunnen 00114441
0000089924 severe; intellectual disability - - Unknown - - 08y - - Johan den Dunnen 00114442
0000089925 intermediate - - Unknown - - - - - Johan den Dunnen 00114443
0000089926 mild - - Unknown - - - - - Johan den Dunnen 00114444
0000089927 intermediate - - Unknown - - - - - Johan den Dunnen 00114445
0000089928 mild - - Unknown - - - - - Johan den Dunnen 00114446
0000089929 mild - - Unknown - - - - - Johan den Dunnen 00114447
0000089930 mild - - Unknown 04y - - - - Johan den Dunnen 00114448
0000089931 mild - - Unknown 11y - - - - Johan den Dunnen 00114449
0000089932 - - - Unknown - - 04y - - Johan den Dunnen 00114450
0000089933 - - - Unknown - - - - - Johan den Dunnen 00114451
0000089934 mild - - Unknown - - - - - Johan den Dunnen 00114452
0000089935 severe - - Unknown - - - - - Johan den Dunnen 00114453
0000089936 - - - Unknown - - - - - Johan den Dunnen 00114454
0000089937 intermediate; no IDS activity fibroblasts; moderate intellectual disability - - Unknown 06y - - - - Johan den Dunnen 00114455
0000089938 intermediate - - Unknown 11y - - - - Johan den Dunnen 00114456
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