Phenotypes for disease #01454 (CNM1 (myopathy, centronuclear, type 1 (CNM1)), OMIM:160150)

44 entries on 1 page. Showing entries 1 - 44.
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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     
0000042955 early onset; neonatal hypotonia, hypoxia; 12y-stable or slowly progressive disease, general hypotonia, diffuse weakness (predominantly proximal portions limbs) ophthalmoparesis - - Isolated (sporadic) - - - - - Johan den Dunnen 00056342
0000042956 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00056343
0000042957 - - - Unknown - - - - - Johan den Dunnen 00056344
0000042958 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00056345
0000042959 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00056346
0000042960 - - - Unknown - - - - - Johan den Dunnen 00056347
0000042961 - - - Unknown - - - - - Johan den Dunnen 00056348
0000042962 - - - Unknown - - - - - Johan den Dunnen 00056349
0000042963 - - - Unknown - - - - - Johan den Dunnen 00056350
0000042964 - - - Unknown - - - - - Johan den Dunnen 00056351
0000042966 early onset; neonatal hypotonia, stable muscle involvement, ophthalmoparesis - - Isolated (sporadic) - - - - - Johan den Dunnen 00056353
0000042968 mild cognitive impairment, mild axonal peripheral nerve involvement - - Familial, autosomal dominant - - - - - Johan den Dunnen 00056355
0000042969 neonatal hypotonia, weak suckling - - Unknown - - - - - Johan den Dunnen 00056356
0000042970 neonatal hypotonia, weak suckling - - Unknown - - - - - Johan den Dunnen 00056357
0000042971 neonatal hypotonia, weak suckling - - Unknown - - - - - Johan den Dunnen 00056358
0000042972 neonatal hypotonia, weak suckling - - Unknown - - - - - Johan den Dunnen 00056359
0000042973 neonatal hypotonia, weak suckling - - Unknown - - - - - Johan den Dunnen 00056360
0000042981 - - - Unknown - - - - - Tom Winder 00056368
0000042982 - - - Unknown - - - - - Tom Winder 00056369
0000042983 - - - Familial, autosomal dominant - - - - - Tom Winder 00056370
0000042984 - - - Isolated (sporadic) - - - - - Tom Winder 00056371
0000042985 - - - Unknown - - - - - Tom Winder 00056372
0000042987 intermediate, onset end first decade, more rapid progression - - Unknown - - - - - Johan den Dunnen 00056374
0000042988 moderate, progressive - - Unknown - - - - - Johan den Dunnen 00056375
0000042991 milder, diffuse muscle hypertrophy - - Familial, autosomal dominant - - - - - Johan den Dunnen 00056378
0000042992 - - - Unknown - - - - - Johan den Dunnen 00056379
0000232925 - - - Familial, autosomal dominant - - - - - Mathieu Cerino 00307120
0000272253 - myopathy centronuclear myopathy Isolated (sporadic) 62y 62y 53y 53y - Mariko Okubo 00377065
0000272258 - - - Isolated (sporadic) 36y 36y 33y 33y - Mariko Okubo 00377069
0000272259 - - - Isolated (sporadic) 48y 48y 20y 20y - Mariko Okubo 00377070
0000272260 - - - Isolated (sporadic) 55y 55y 36y 36y - Mariko Okubo 00377071
0000272261 - - - Isolated (sporadic) 39y 39y 18y 18y - Mariko Okubo 00377072
0000272262 - - - Isolated (sporadic) 02y 02y 00y 0y - Mariko Okubo 00377073
0000272263 - congenital myopathy centronuclear myopathy Isolated (sporadic) 11y 11y 00y 0y - Mariko Okubo 00377074
0000272264 - Myotubular myopathy Myotubular myopathy Isolated (sporadic) 00y02m 00y02m 00y00m 0y0m - Mariko Okubo 00377075
0000272265 - congenital myopathy centronuclear myopathy Isolated (sporadic) 24y 24y 13y 13y - Mariko Okubo 00377076
0000272266 - centronuclear myopathy centronuclear myopathy Isolated (sporadic) 55y 55y 15y 15y - Mariko Okubo 00377077
0000272267 - Distal myopathy centronuclear myopathy Isolated (sporadic) 51y 51y 41y 41y - Mariko Okubo 00377078
0000272268 - congenital myopathy centronuclear myopathy Isolated (sporadic) 49y 49y 12y 12y - Mariko Okubo 00377079
0000272269 - myotubular myopathy centronuclear myopathy Isolated (sporadic) 58y 58y 01y 1y - Mariko Okubo 00377080
0000272271 - myopathy centronuclear myopathy Isolated (sporadic) 54y 54y 04y 4y - Mariko Okubo 00377082
0000272272 - centronuclear myopathy centronuclear myopathy Isolated (sporadic) 58y 58y - around 10y - Mariko Okubo 00377081
0000272273 - congenital myopathy - Isolated (sporadic) 01y05m 01y05m 00y00m 0y0m - Mariko Okubo 00377083
0000272274 - hypotonia centronuclear myopathy Isolated (sporadic) 00y05m 00y05m 00y00m 0y0m - Mariko Okubo 00377086
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