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Mediterranean Founder Mutation Database (MFMD)

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By Disease
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

By Gene
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Last update
21/6/2017

Disease list


Canavan disease
Carbamoylphosphate synthetase I deficiency
Cardiomyopathy, dilated, 1P
Cardiomyopathy, familial hypertrophic, 1
Cardiomyopathy, familial hypertrophic, 4
Catel-Manzke syndrome
CD8 deficiency, familial
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral cavernous malformations-1
Cerebrotendinous xanthomatosis
Chanarin-Dorfman syndrome
Charcot-Marie-Tooth disease, type 2A2
Charcot-Marie-Tooth disease, type 2B1
Charcot-Marie-Tooth disease, type 4A
Charcot-Marie-Tooth disease, type 4C
Charcot-Marie-Tooth disease, type 4D
Cohen syndrome
Colorectal cancer, hereditary nonpolyposis, type 1 (Lynch syndrome)
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 8
Combined factor V and VIII deficiency
Congenital disorder of glycosylation, type Ia
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Creutzfeldt-Jakob disease
Crigler-Najjar syndrome, type I
Cryptorchidism
Cystic fibrosis
Cystinuria

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Created by Hicham Charoute.