RIDDLE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES
Number of Symptoms 11
OrphanetNr:
OMIM Id: 611943
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
2
(HPO:0001999) Abnormal facial shape 17940005 IBIS 169 / 7739
3
(HPO:0001251) Ataxia 413 / 7739
4
(HPO:0011342) Mild global developmental delay 17940005 IBIS 10 / 7739
5
(HPO:0004322) Short stature 17940005 IBIS 1232 / 7739
6
(HPO:0000958) Dry skin 152 / 7739
7
(HPO:0004315) IgG deficiency 17940005 IBIS 38 / 7739
8
(HPO:0011133) Increased sensitivity to ionizing radiation 17940005 IBIS 2 / 7739
9
(HPO:0002206) Pulmonary fibrosis rare [HPO:skoehler] 51 / 7739
10
(HPO:0002721) Immunodeficiency 17940005 IBIS 97 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stewart et al. (2007) described a male Caucasian patient with a novel syndrome of increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. They termed the disorder RIDDLE syndrome. The patient's parents were ...
Molecular genetics OMIM In the patient with RIDDLE syndrome reported by Stewart et al. (2007), Stewart et al. (2009) identified compound heterozygosity for 2 truncating mutations in the RNF168 gene (612688.0001 and 612688.0002). The authors noted that the patient's father, who ...