All individuals with variants in gene RNF13

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00213622 30595371-Pat1 PubMed: Edvardson 2019 2-generation family, 1 affected, unaffected non-carrier parents M no - - 02y09m - - - ? feeding difficulties, irritability, increased tone; 7w-multiple seizures; profound intellectual disability; deaf bilaterally; MRI-brain thin corpus callosum; birth head circumference 31.5cm (3rd percentile); died at 33m 1 1 Johan den Dunnen
00213623 30595371-Pat2 PubMed: Edvardson 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? respiratory distress, irritability, low central tone, arching, feeding difficulties; 7m-infantile spasms; birth head circumference 30.0cm (-2.6 SD); profound intellectual disability; normal hearing; dysmorphic features, failure to thrive, inguinal hernia, contractures, spastic extremities, scoliosis, hip dysplasia, delayed bone age, idiopathic high B12 levels; MRI-brain delayed myelination, thin corpus callosum, subsequent volume loss 1 1 Johan den Dunnen
00213624 30595371-Pat3 PubMed: Edvardson 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? seizures; birth head circumference 29.5cm (-2.8 SD); 2m-general tonic clonic seizures; profound intellectual disability; deaf bilaterally; contractures, cataract, failure to thrive, inguinal hernia 1 1 Johan den Dunnen
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