Phenotypes for disease #01959

46 entries on 1 page. Showing entries 1 - 46.
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AscendingPhenotype ID     

Phenotype details     

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Individual ID     
0000082226 gross motor delay, deterioration with loss of ambulation, severe scoliosis; normal CK - CFTD Familial, autosomal recessive 41y - 00y08m - WB SEPN1 normal Johan den Dunnen 00104285
0000082228 WB SEPN1 normal - - Unknown - - - - - Johan den Dunnen 00104287
0000082301 - - - Unknown - - - - - Tom Winder 00104369
0000082304 - - - Unknown - - - - - Tom Winder 00104372
0000083987 - - - Isolated (sporadic) - - - - - Nigel Laing & Kristen Nowak 00106172
0000084005 - - - Isolated (sporadic) - - - - - Nigel Laing & Kristen Nowak 00106190
0000084085 - - - Familial, autosomal dominant - - - - - Nigel Laing & Kristen Nowak 00106270
0000084087 deceased from hepatic encephalopathy - - Isolated (sporadic) 1y - - - - Nigel Laing & Kristen Nowak 00106272
0000084129 deceased from respiratory complications - - Isolated (sporadic) 3y - - - - Nigel Laing & Kristen Nowak 00106314
0000084130 no head control, and could move their distal limbs weakly, continuously ventilated by tracheostomy - - Unknown 3y - - - - Nigel Laing & Kristen Nowak 00106315
0000084245 - - - Unknown - - - - - Tom Winder 00106441
0000084246 - - - Unknown - - - - - Tom Winder 00106442
0000084255 - - - Unknown - - - - - Tom Winder 00106451
0000084268 EM: CFTD with possible minicores, decreased fetal movements, hypotonia, joint laxity, ambulant and able to climb stairs; CPK: 53 - - Unknown - - - - - Thomas Cullup 00106464
0000084286 - - - Unknown - - - - - Tom Winder 00106482
0000084296 - - - Unknown - - - - - Nigel Laing & Kristen Nowak 00106492
0000128884 CFTD with ilated cardiomyopathy (HP:0001644), congenital - - Familial, autosomal recessive - - - - - Minttu Marttila 00163746
0000161980 hypotonia, difficulty swallowing, ptosis, contractures, scoliosis. myopathy, congenital, with fiber-type disproportion CFTD Unknown - - - - - Tom Winder 00213526
0000161994 scoliosis, mild weakness of neck flexors, deltoids, finger extensors of hands, minimal contractures of fingers and Achilles tendons; walk-2y congenital fibre type disproportion CFTD Familial, autosomal dominant - - 1d hypotonia - Minttu Marttila 00213540
0000161995 facial weakness, high-arched palate congenital fibre type disproportion CFTD Familial, autosomal dominant - - 1d severe hypotonia, respiratory failure - Minttu Marttila 00213541
0000161999 see paper; ...; CPK normal congenital fibre type disproportion CFTD Isolated (sporadic) - - 0d - - Jaya Punetha 00213545
0000162000 see paper; ... myopathy, congenital, with fiber-type disproportion CFTD Isolated (sporadic) - - <0d reduced fetal movement - Johan den Dunnen 00213546
0000162008 severe; LE initially weaker than UE; 2.3y-marked pectus excavatum; 9.5y-facial weakness, significant dysarthria, scoliosis, severe weakness of upper and lower limbs; 2.5y-ventilator dependent, G-tube; never walked; wheelchair bound allways; no intellectual disability fiber-type disproportion, congenital CFTD Familial, autosomal recessive - - 3m hypotonia, head lag, motor delay - Alan Beggs 00213554
0000162012 - fiber-type disproportion, congenital CFTD Unknown - - - - - Tom Winder 00213558
0000162014 mild; 18y-myopathic facies, scoliosis, fatigue, difficulty with weight gain, finger/heel cord contractures, mild to moderate weakness of axial/proximal muscles; neck flexors and axial muscles particularly weak; 12y-nocturnal bipap; occasional difficulty chewing and swallowing; walk-18m; able to run; no intellectual disability fiber-type disproportion, congenital CFTD Isolated (sporadic) - - <1m hypotonia, delayed motor milestones, joint laxity - Alan Beggs 00213560
0000162016 - congenital fibre type disproportion CFTD Familial, autosomal dominant - - - - - Johan den Dunnen 00213562
0000162018 - fiber-type disproportion, congenital CFTD Isolated (sporadic) - - - - - Johan den Dunnen 00213564
0000162019 - fiber-type disproportion, congenital CFTD Familial, autosomal dominant - - - - - Johan den Dunnen 00213565
0000162020 - fiber-type disproportion, congenital CFTD Isolated (sporadic) - - - - - Johan den Dunnen 00213566
0000162023 hypotonia, axial weakness, FTT, muscle biopsy shows CFTD fiber-type disproportion, congenital CFTD Unknown - - - - - Tom Winder 00213569
0000162025 - fiber-type disproportion, congenital CFTD Isolated (sporadic) - - - - - Johan den Dunnen 00213571
0000162027 - fiber-type disproportion, congenital CFTD Isolated (sporadic) - - - - - Johan den Dunnen 00213573
0000162028 - fiber-type disproportion, congenital CFTD Isolated (sporadic) - - - - - Johan den Dunnen 00213574
0000162030 - fiber-type disproportion, congenital CFTD Isolated (sporadic) - - - - - Johan den Dunnen 00213576
0000162031 - fiber-type disproportion, congenital CFTD Isolated (sporadic) - - - - - Johan den Dunnen 00213577
0000162035 history of cryptorchidism, PDD/ADHD and verbal learning disorder; 5.5y-facial weakness, but relatively normal tone and strength; able to run, current ability unknown; walk-18m; run fiber-type disproportion, congenital CFTD Familial - - 0d poor suck, slow feeding, hypotonia - Alan Beggs 00213581
0000162036 retrospectively recalls: always slow runner, poor strength, history of myalgia with exertion and distal parathesias; 33y-remature ventricular contractions; 39y-ptosis, myopathic facies, diffuse mild weakness; occasional difficulty with chewing and swallowing; slow feeder, no known respiratory issues; walk-39y; no intellectual disability fiber-type disproportion, congenital CFTD Unknown - - - - - Alan Beggs 00213582
0000162037 moderate; 8.75y-facial weakness, ptosis, dysarthria, diffuse muscle weakness (especially axial), and lordosis; 8y-nocturnal bi-pap; walk-5y; never run; no intellectual disability fiber-type disproportion, congenital CFTD Isolated (sporadic) - - <0d abnormal posture, gross motor delay - Alan Beggs 00213583
0000162038 poor weight gain/suck as infant; 14m-dysarthria, no head/neck control, not ambulatory, moderate diffuse weakness fiber-type disproportion, congenital CFTD Isolated (sporadic) - - 2m bifacial paresis, hypotonia - Alan Beggs 00213584
0000162041 - fiber-type disproportion, congenital CFTD Isolated (sporadic) - - - - - Johan den Dunnen 00213587
0000162042 - fiber-type disproportion, congenital CFTD Isolated (sporadic) - - - - - Tom Winder 00213588
0000162043 - fiber-type disproportion, congenital CFTD Unknown - - - - - Tom Winder 00213589
0000162050 mild proximal weakness involving trunk, shoulder and hip girdle, minimal involvement of facial and neck muscles, no progression, reflexes absent apart from ankle jerks (1/4), high-arched palate; walk-2y; run-2y congenital fibre type disproportion CFTD Familial, autosomal dominant - - - - - Minttu Marttila 00213596
0000166480 - congenital myopathy with fiber type disproportion CFTD Familial, autosomal recessive - - - - - Tom Winder 00218030
0000172866 Mild proximal weakness, myopathic face, high arched palate, scapula winging - - Familial, autosomal recessive 12y 04y 01y? 1y? - Cristiane Moreno 00229642
0000203607 - congenital fiber-type disproportion - Familial, autosomal recessive 7m - - - - Johan den Dunnen 00265821
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