Carnitine deficiency myopathy14075Carnitine deficiency myopathy

47XYY snydome

Amelogenesis imperfecta and nephrocalcinosis enamel renal syndrome

Arthrogryposis multiplex congenita

Barakat s syndrome

Barraquer Simons syndrome

Bererdinelli Seip congenital lipodystrophy

Cardio vertebro renal syndrome

Carnitine deficiency myopathy

Cateye syndrome

Cerebro oculo facio skeletal syndrome

Coloboma of macula with type b brachydactyly


Deletion 11p syndrome

Deletion 18q syndrome

Deletion 9p syndrome

Dubowitz syndrome

Duplication 10q syndrome

Duplication 20p syndrome

Duplication 4p syndrome

Dyssegmental dwarfism

Facio cardio renal syndrome

Fatty metamorphosis of the viscera

Femoral facial syndrome

Ganglioside GM1 beta Galactosidase

Gangliosidosis GM1 Landing s disease

Goltz focal dermal hypoplasia

Hereditary osteolysis hereditary of carpal bones with nephropathy

Jebert Hayward oro cranio digital syndrome

Lawrence s syndrome


Leukonychia totalis

N syndrome

Naurnoff s polydactyly with hereditary chondrodystrophy type iii

Neu Laxova syndrome

Pena Shokeir syndrome

Pulmonary stenosis with congenital nephrosis

Testicular regression xy gonadal agenesis

Thallassemia B

Thyrotoxicosis renal disease absent frontal sinuses



Wohltmann Caglar Syndrome

Trafficking and proteolytic processing of RNF13, a model PA-TM-RING family endosomal membrane ubiquitin ligase.
[21078126] FEBS J 278(1): 69-77 (2011)

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  • Carnitine deficiency myopathy

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