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]
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

Amelogenesis imperfecta, type IG (enamel-renal syndrome)

OMIM:204690
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the digestive system


Mutations

Gene SymbolFAM20A
Reference transcriptNM_017565.3
DNA Changec.34_35delCT
A.A. Changep.Leu12Alafs*67
Exon/Intronexon 1
Mutation Typedeletion
ReferenceCherkaoui Jaouad I, El Alloussi M, Chafai E Alaoui S, Laarabi FZ, Lyahyai J, Sefiani. Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
BMC Oral Health. 2015 Jan 30;15:14.