Phenotypes for disease #04046 (MPXPS (myopathy, with extrapyramidal signs (MPXPS)), OMIM:615673)

17 entries on 1 page. Showing entries 1 - 17.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
MotorSkills     
Protein     
Owner     
Individual ID     
0000050559 muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; ptosis; EMG?; nerve conduction velocity?; MRI brain?; CPK 1000-8900 IU/L; severe learning difficulties - - Familial, autosomal recessive - - 8y - climbs stair with support - Marjolein Kriek 00064044
0000050560 muscle weakness, proximal, early onset; currently ambulant; no chorea; dystonia; no paroxysmal ataxia; no short stature; skin vitiligo; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 5000 IU/L; severe learning difficulties - - Familial, autosomal recessive - - 6y motor delay; speech delay climbs stair with support - Marjolein Kriek 00064045
0000050561 muscle weakness, proximal, early onset; currently ambulant with support; no chorea; no dystonia; paroxysmal ataxia; short stature; skin atopic dermatitis; no microcephaly; astigmatism, hypermetropia; EMG?; nerve conduction velocity?; MRI brain linear calcification frontal lobe; CPK 800-9000 IU/L; mild learning difficulties - - Familial, autosomal recessive - - 28m proximal weakness runs - Marjolein Kriek 00064046
0000050562 muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; paroxysmal ataxia; no short stature; normal skin; no microcephaly; hypermetropia; EMG?; nerve conduction velocity?; MRI brain normal; CPK 2000-4000 IU/L; mild learning difficulties - - Familial, autosomal recessive - - 11m motor delay; proximal weakness climbs stair with support - Marjolein Kriek 00064047
0000050563 muscle weakness, proximal, early onset; currently running; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2500 IU/L; mild learning difficulties - - Familial, autosomal recessive - - 22m motor delay climbs stair with support - Johan den Dunnen 00064048
0000050564 muscle weakness, proximal, early onset; currently climbing stairs with support; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2800 IU/L; no learning difficulties - - Familial, autosomal recessive - - 18m motor delay ambulant - Johan den Dunnen 00064049
0000050565 muscle weakness, proximal, early onset; currently running; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain?; CPK 1300 IU/L; mild learning difficulties - - Familial, autosomal recessive - - 18m motor delay; speech delay; proximal weakness runs - Johan den Dunnen 00064050
0000050566 muscle weakness, proximal, early onset; currently climbing stairs with support; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK -; severe learning difficulties - - Familial, autosomal recessive - - 2y motor delay; proximal weakness climbs stair with support - Johan den Dunnen 00064051
0000050567 muscle weakness, proximal, early onset; currently ambulant with support; severe chorea; no dystonia; no paroxysmal ataxia; no short stature; skin atopic dermatitis; microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain normal; CPK 300-4000 IU/L; severe learning difficulties - - Familial, autosomal recessive - - 18m motor delay runs - Johan den Dunnen 00064052
0000050568 muscle weakness, proximal, early onset; currently climbing stairs with support; severe chorea; no dystonia; no paroxysmal ataxia; no short stature; skin icthyosis; no microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain normal; CPK 6000-12500 IU/L; severe learning difficulties - - Familial, autosomal recessive - - 3y motor delay; speech delay runs - Johan den Dunnen 00064053
0000050569 muscle weakness, proximal, early onset; currently ambulant with support; severe chorea; dystonia; no paroxysmal ataxia; no short stature; skin icthyosis, atopic dermatitis; microcephaly; optic atrophy; EMG myopathic; normal nerve conduction velocity; MRI brain normal; CPK 4800 IU/L; severe learning difficulties - - Familial, autosomal recessive - - 3y motor delay runs - Johan den Dunnen 00064054
0000050570 muscle weakness, proximal, early onset; currently climbing stairs with support; chorea; dystonia; no paroxysmal ataxia; short stature; skin icthyosis; microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2900-4200 IU/L; severe learning difficulties - - Familial, autosomal recessive - - 2y motor delay; speech delay; proximal weakness runs - Johan den Dunnen 00064055
0000050571 muscle weakness, proximal, early onset; currently ambulant; chorea; no dystonia; paroxysmal ataxia; short stature; normal skin; no microcephaly; nystagmus; EMG myopathic; nerve conduction velocity reduced; MRI brain normal; CPK 8000 IU/L; severe learning difficulties - - Familial, autosomal recessive - - 3y motor delay; speech delay climbs stair with support - Johan den Dunnen 00064056
0000050572 muscle weakness, proximal, early onset; currently ambulant with support; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG myopathic; nerve conduction velocity increased; MRI brain small cerebellum; CPK 1600 IU/L; mild learning difficulties - - Familial, autosomal recessive - - 2y motor delay; speech delay runs - Johan den Dunnen 00064057
0000050573 muscle weakness, proximal, early onset; currently ambulant; chorea; dystonia; no paroxysmal ataxia; short stature; normal skin; no microcephaly; ptosis; EMG normal; normal nerve conduction velocity; MRI brain signal change in globus pallidus; CPK 5000-8000 IU/L; severe learning difficulties - - Familial, autosomal recessive - - 5y motor delay; speech delay; proximal weakness runs - Johan den Dunnen 00064058
0000303332 Muscular dystrophy, Migraine, Attention deficit hyperactivity disorder, Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Reduced muscle fiber alpha dystroglycan, Left anterior fascicular block - - Unknown 13y - - - - - Andreas Laner 00411256
0000334391 Proximal muscle weakness (HP:0003701) Myalgia (HP:0003326) Scapular winging (HP:0003691) Abnormal lumbar spine morphology (HP:0100712) Waddling gait HP:0002515 - Myopathy with extrapyramidal signs Familial, autosomal recessive 23y 23y 13y - - - Gautham Arunachal 00445138
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