Disease #00001 (MPS I (Mucopolysaccharidosis type I), OMIM:607014)

Official abbreviation MPS I
Name Mucopolysaccharidosis type I
OMIM ID 607014
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 59
Phenotype entries for this disease 0
Associated with 1 gene IDUA
Associated tissues -
Disease features -
Remarks -


Individuals

59 entries on 1 page. Showing entries 1 - 59.
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AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Consanguinity     

Remarks     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000002 - F Iran yes Female, diagnosed as having MPS 1H at age 14 month. Molecular diagnosis at age 7 years old. Using NGS panel for metabolic disorders. MPS I - IDUA IDUA 1 1 Variome.ir
00000018 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000026 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000031 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000033 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000036 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000042 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000043 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000045 - F Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
00000048 - F Iran - - MPS I - IDUA IDUA 1 1 Variome.ir
00000051 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000059 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000060 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000063 - M Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
00000065 - M Iran - - MPS I - IDUA IDUA 2 1 Variome.ir
00000068 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000086 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000087 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000089 - M Iran yes - MPS I - IDUA IDUA 2 1 Variome.ir
00000096 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000101 - M Iran - - MPS I - IDUA IDUA 1 1 Variome.ir
00000104 - M Iran no - MPS I - IDUA IDUA 2 1 Variome.ir
00000107 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000111 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000115 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000116 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000120 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000127 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000128 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000135 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000137 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000147 - M Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
00000151 - M Iran yes - MPS I - IDUA IDUA 2 1 Variome.ir
00000155 - M Iran - - MPS I - IDUA IDUA 1 1 Variome.ir
00000156 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000163 - F Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
00000168 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000169 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000170 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000171 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000175 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000186 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000187 - F Iran - - MPS I - IDUA IDUA 1 1 Variome.ir
00000191 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000194 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000198 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000200 - M Iran yes - MPS I - IDUA IDUA 2 1 Variome.ir
00000202 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000203 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000206 - M Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
00000215 - M Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
00000216 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000219 - - Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000222 - F Iran no - MPS I - IDUA IDUA 2 1 Variome.ir
00000223 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000227 - M Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000232 - F Iran yes - MPS I - IDUA IDUA 1 1 Variome.ir
00000243 - F Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
00000244 - F Iran no - MPS I - IDUA IDUA 1 1 Variome.ir
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