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Phenotypes for disease #00005 (MDDGC5;LGMDR9;LGMD2I (dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C5 (LGMDR9, LGMD2I)), OMIM:607155)
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Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
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7 entries on 1 page. Showing entries 1 - 7.
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How to query
Phenotype ID
Phenotype details
Diagnosis/Initial
Inheritance
Age/Examination
Diagnosis/Definite
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
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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