Phenotypes for disease #00429 (SCPNK (scapuloperoneal syndrome, neurogenic, Kaeser type (SCPNK)), OMIM:181400)

5 entries on 1 page. Showing entries 1 - 5.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

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Owner     

Individual ID     
0000052800 Distal muscle weakness (HP:0002460), mild dysphagia (HP:0002015), Gynecomastia (HP:0000771), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy with neurogenic-like changes (HP:0003198), - - Familial, autosomal dominant 48y - 31y Difficulty walking (HP:0002355) - Pieter Klap 00073109
0000052801 Myalgia (HP:0003326), Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458) - - Familial, autosomal dominant 33y - 30y Myalgia (HP:0003326), Difficulty climbing stairs (HP:0003551) - Pieter Klap 00073110
0000052802 Proximal muscle weakness in lower limbs (HP:0008994), Limb-girdle muscular dystrophy (HP:0006785), Arrhythmia (HP:0011675), Respiratory insufficiency (HP:0002093), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy (HP:0003198) - - Familial, autosomal dominant 64y - 40y Proximal muscle weakness in lower limbs (HP:0008994) - Pieter Klap 00073112
0000155780 Scapuloperoneal syndrome type kaeser scapuloperoneal syndrome, neurogenic, Kaeser type (SCPNK) SCPNK Unknown - - - - - Johan den Dunnen 00208011
0000155815 - scapuloperoneal weakness and atrophy SCPNK Unknown - - - - - Johan den Dunnen 00208046
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