Phenotypes for disease #01961 (myotonia congenita, autosomal recessive (Becker disease), OMIM:255700)

96 entries on 1 page. Showing entries 1 - 96.
Legend   How to query  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000034257 see paper; transitory depression elictited 3 Hz RNS -57, ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00046514
0000060332 Muscular hypertrophy. Warm up - - Familial, autosomal recessive 07y 07y - - - Carmen Palma 00080752
0000060463 Myotonia congenita, recessive (OMIM:255700) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080894
0000061018 Myotonia with warm-up phenomenonMarked Marked muscular hypertrophy Myotonia EMG: myotonic runs Percussion myotonia - - Familial, autosomal recessive 10y 14y - - - Carmen Palma 00081451
0000061019 - - - Familial, autosomal recessive 09y - - - - Carmen Palma 00081452
0000061021 EMG: myotonic runs Myotonia Myotonia with warm-up phenomenon - - Unknown - - - - - Carmen Palma 00081454
0000087624 Becker - - Unknown - - - - - Johan den Dunnen 00111765
0000087625 - - Becker disease Familial, autosomal recessive - - - - - Johan den Dunnen 00111786
0000087626 Becker - - Unknown - - - - - Johan den Dunnen 00112040
0000087627 Becker - - Unknown - - - - - Johan den Dunnen 00111958
0000087628 Becker - - Unknown - - - - - Johan den Dunnen 00111807
0000087629 Becker - - Unknown - - - - - Johan den Dunnen 00111812
0000087630 Becker - - Unknown - - - - - Johan den Dunnen 00111872
0000087631 Becker - - Unknown - - - - - Johan den Dunnen 00111749
0000087632 Becker - - Unknown - - - - - Johan den Dunnen 00111873
0000087633 Becker - - Unknown - - - - - Johan den Dunnen 00111968
0000087634 Becker - - Unknown - - - - - Johan den Dunnen 00111736
0000087635 Becker - - Unknown - - - - - Johan den Dunnen 00111884
0000087636 Becker - - Unknown - - - - - Johan den Dunnen 00111962
0000087637 Becker - - Unknown - - - - - Johan den Dunnen 00111990
0000087638 Becker - - Unknown - - - - - Johan den Dunnen 00111982
0000087639 Becker - - Unknown - - - - - Johan den Dunnen 00111728
0000087640 Becker - - Unknown - - - - - Johan den Dunnen 00112035
0000087641 Becker - - Unknown - - - - - Johan den Dunnen 00111891
0000087642 Becker - - Unknown - - - - - Johan den Dunnen 00111722
0000087643 Becker - - Unknown - - - - - Johan den Dunnen 00111705
0000087644 Becker - - Unknown - - - - - Johan den Dunnen 00111745
0000087645 Becker - - Unknown - - - - - Johan den Dunnen 00111964
0000087646 Becker - - Unknown - - - - - Johan den Dunnen 00111706
0000087647 Becker - - Unknown - - - - - Johan den Dunnen 00111985
0000087648 Becker - - Unknown - - - - - Johan den Dunnen 00111746
0000087649 Becker? - - Unknown - - - - - Johan den Dunnen 00112024
0000087650 Becker - - Unknown - - - - - Johan den Dunnen 00111980
0000087651 Becker - - Unknown - - - - - Johan den Dunnen 00111727
0000087652 Becker - - Unknown - - - - - Johan den Dunnen 00111907
0000087653 Becker - Becker disease Familial, autosomal recessive - - - - - Johan den Dunnen 00111908
0000087654 Becker - - Unknown - - - - - Johan den Dunnen 00111957
0000087655 Becker - - Unknown - - - - - Johan den Dunnen 00111979
0000087656 Becker - - Unknown - - - - - Johan den Dunnen 00111721
0000087657 Becker - - Unknown - - - - - Johan den Dunnen 00111911
0000087658 Becker - - Unknown - - - - - Johan den Dunnen 00112033
0000087659 Becker - - Unknown - - - - - Johan den Dunnen 00111971
0000087660 Becker - - Unknown - - - - - Johan den Dunnen 00111914
0000087661 Becker - - Unknown - - - - - Johan den Dunnen 00111915
0000087662 Becker - - Unknown - - - - - Johan den Dunnen 00111742
0000087663 - - Becker disease Familial, autosomal recessive - - - - - Johan den Dunnen 00111916
0000087664 Becker - - Unknown - - - - - Johan den Dunnen 00111965
0000087665 Becker - - Unknown - - - - - Johan den Dunnen 00111918
0000087666 Becker - - Unknown - - - - - Johan den Dunnen 00111973
0000087667 Becker - - Unknown - - - - - Johan den Dunnen 00111734
0000087668 Becker - - Unknown - - - - - Johan den Dunnen 00112007
0000087669 Becker - - Unknown - - - - - Johan den Dunnen 00111955
0000087670 Becker - - Unknown - - - - - Johan den Dunnen 00112003
0000087671 Becker - - Unknown - - - - - Johan den Dunnen 00111975
0000087672 Becker - - Unknown - - - - - Johan den Dunnen 00111984
0000087673 Becker - - Unknown - - - - - Johan den Dunnen 00111981
0000087674 Becker - - Unknown - - - - - Johan den Dunnen 00111956
0000087675 Becker - - Unknown - - - - - Johan den Dunnen 00112042
0000087676 Becker - - Unknown - - - - - Johan den Dunnen 00111989
0000087677 Becker - - Unknown - - - - - Johan den Dunnen 00112013
0000087678 Becker - - Unknown - - - - - Johan den Dunnen 00112002
0000087679 Becker? - - Unknown - - - - - Johan den Dunnen 00111738
0000087680 Becker - - Unknown - - - - - Johan den Dunnen 00111941
0000087681 Becker? - - Unknown - - - - - Johan den Dunnen 00111740
0000087682 Becker - - Unknown - - - - - Johan den Dunnen 00111943
0000087683 Becker - - Unknown - - - - - Johan den Dunnen 00111716
0000087684 Becker - - Unknown - - - - - Johan den Dunnen 00112009
0000087685 Becker - - Unknown - - - - - Johan den Dunnen 00111997
0000087686 Becker - - Unknown - - - - - Johan den Dunnen 00111994
0000087687 Becker - - Unknown - - - - - Johan den Dunnen 00111708
0000087688 Becker - - Unknown - - - - - Johan den Dunnen 00111999
0000087689 Becker - - Unknown - - - - - Johan den Dunnen 00112032
0000087690 Becker - - Unknown - - - - - Johan den Dunnen 00111709
0000087691 Becker - - Unknown - - - - - Johan den Dunnen 00112000
0000087692 Becker - - Unknown - - - - - Johan den Dunnen 00111713
0000087693 Becker - - Unknown - - - - - Johan den Dunnen 00111720
0000087696 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112073
0000087697 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112083
0000087698 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112090
0000087699 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112132
0000087708 Biecker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112054
0000087709 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112057
0000087710 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112064
0000087711 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112072
0000087712 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112074
0000087713 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112076
0000087714 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112077
0000087715 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112091
0000087716 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112097
0000087717 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112098
0000087718 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112124
0000087719 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112127
0000087720 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112129
0000087721 Becker - - Familial, autosomal recessive - - - - - Raffaella Brugnoni 00112131
0000285810 Myopathy, Skeletal muscle hypertrophy, Global developmental delay, Delayed speech and language development, Abnormality of the neck, Myotonia with warm-up phenomenon; Climbing stairs difficult possible up stairs, down stairs much better, no muscle weakness, warm up phenomenon, jaw and tongue muscles also affected, low hairline, broad neck, below average learning and performance abilities, speech disorder, CK normal. - - Familial, autosomal recessive - 14y - - - Andreas Laner 00392563
0000303949 myotonia; EMG myotonia; no warm-up phenomenon/paradoxical myotonia; no muscle weakness; no muscle hypertrophy; myopathy not painful; no episodic paralysis non-dystrophic myotonia - Familial, autosomal dominant - - 16y - - Johan den Dunnen 00411583
Legend   How to query