Phenotypes for disease #00005 (MDDGC5;LGMDR9;LGMD2I (dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C5 (LGMDR9, LGMD2I)), OMIM:607155)

7 entries on 1 page. Showing entries 1 - 7.
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Individual ID     
0000002019 mental retardation, dystonic movement hands - Familial, X-linked recessive - - - - - - Johan den Dunnen 00003179
0000002091 - - Isolated (sporadic) - - - - - - Johan den Dunnen 00003252
0000079478 proximal and pelvic muscle weakness with Gowers' sign, discrete calf pseudohypertrophy; 14m-independent ambulation; 6y-myopathic gait, frequent falls, difficulties in running and with climbing; 10y-still ambulant; MRI muscle with adipose infiltration at gluteus maximus, adductor muscles and vastus lateralis; 9y-cardio-respiratory; hyperCKemia - Familial, autosomal recessive 09y - 09y 01y04m delayed gait acquisition - Miguel Angel Alcántara-Ortigoza 00101231
0000079479 possible congenital muscular dystrophy phenotype; at 1m presented with hypotonia, hyperCKemia (3,000 UI/L, reference values: 55-170 UI/L) and respiratory insufficiency; muscle biopsy showed muscle atrophic fibers along with perimisial and endomisial fibrosis, but without establishing definitive or presumptive diagnosis; 4m-died with diagnosis of right heart failure, respiratory insufficiency, septic shock - Isolated (sporadic) 00y01m - - 00y01m 01m - Miguel Angel Alcántara-Ortigoza 00101229
0000205090 “BMD phenotype”, hyperCKemia, MP-EMG; died at age 15y due to dilated cardiomyopathy, confirmed by post-mortem study; compound heterozygous sister deceased at 30y due to dilated cardiomyopathy Becker muscular dystrophy, dilated cardiomyopathy Familial, autosomal recessive 15y LGMD2I;LGMDR9 - ? - - Miguel Angel Alcántara-Ortigoza 00267245
0000274649 MD; elevated CK (Neurological) - Familial - LGMD type 5C - - - - LOVD 00380796
0000295354 - - Familial, autosomal recessive - - - - - - JA Bevilacqua 00402558
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