RIDDLE syndrome | |
---|---|
Other names | Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome |
Riddle syndrome is inherited in an autosomal recessive pattern. |
RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and Learning difficulties.
The features of this condition include:[ citation needed]
This condition is due to mutations in the RNF168 gene. It is inherited in an autosomal recessive fashion. The gene encodes a ubiquitin ligase and is located on the long arm of chromosome 3 (3q29) on the Crick (minus strand). [1]
The DDx is [ citation needed]
This section is empty. You can help by
adding to it. (January 2018) |
This condition is extremely rare. Only four cases have been described up to 2017. [2]
This syndrome was first described by Stewart et al. 2007. [3]
RIDDLE syndrome | |
---|---|
Other names | Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome |
Riddle syndrome is inherited in an autosomal recessive pattern. |
RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and Learning difficulties.
The features of this condition include:[ citation needed]
This condition is due to mutations in the RNF168 gene. It is inherited in an autosomal recessive fashion. The gene encodes a ubiquitin ligase and is located on the long arm of chromosome 3 (3q29) on the Crick (minus strand). [1]
The DDx is [ citation needed]
This section is empty. You can help by
adding to it. (January 2018) |
This condition is extremely rare. Only four cases have been described up to 2017. [2]
This syndrome was first described by Stewart et al. 2007. [3]