Disease #00593 (RIDDLE syndrome, OMIM:611943)

Official abbreviation -
Name RIDDLE syndrome
OMIM ID 611943
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 5
Associated with 1 gene RNF168
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00327005 M72 II-2 Doucette 2021, submitted 3 generation family segregating dominant form of unknown syndromic vision loss, affected mother; NOTE: undefined condition, no entries for hearing loss and congenital cataracts. This would be autosomal dominant hearing loss and congenital cataracts. F - Canada Ukranian/German descent - 0 Yes - cancer, breast, DFNA, retinal degeneration, RIDDLE syndrome Breast cancer, Dominantly inherited learning disabilities, facial dysmorphism, congenital cataracts, and congenital hearing loss. Clinical assessment by a medical geneticist indicated this family shared some systemic dysmorphisms (short stature, small head circumference, and low weight, hypertelorism) and behavioral/learning disabilities, similar to RIDDLE syndrome patients. Breast cancer diagnosed at age 31. - C1orf95, TOP2A, UBE2U 3 5 Lance P Doucette
00327049 M72 III-1 Doucette 2021, submitted - M no Canada Ukranian;Germany - 0 Yes - retinal degeneration, RIDDLE syndrome - Bilateral small optic nerves, nystagmus - Splitting between the inner nuclear and the outer plexiform layer in left eye consistent with retinoschisis -Congenital cataracts, nystagmus, retinoschisis OS, -RIDDLE-Like presentation -Mild to moderate hearing loss -Learning disability (ADHD) -Moderate intellectual disability -Delayed developmental milestones -25th-50th%ile height -10-25th %tle weight -3rd %ile head circumference -bracycephaly -micrognathia -1 cafe au lait spot - C1orf54, TOP2A, UBE2U 3 1 Lance P Doucette
00327050 M72 III-2 Doucette 2021, submitted - F no Canada Ukranian/German - 0 Yes - retinal degeneration, RIDDLE syndrome Bilateral congenital cataracts, amblyopia, exotropia - C1orf54, TOP2A, UBE2U 3 1 Lance P Doucette
00327051 M72 III-3 Doucette 2021, submitted - - - Canada Ukranian/German descent - - Yes - retinal degeneration, RIDDLE syndrome -RIDDLE-like presentation -Mild to moderate hearing loss -Developmental delay -3-10th %ile height -25th %ile weight -2-50th %ile head circumference -micrognathia., Bilateral congenital cataracts, Esotropia, Amblyopia - C1orf54, TOP2A, UBE2U 3 1 Lance P Doucette
Legend   How to query  

  Powered by LOVD v.3.0 Build 25c
LOVD software ©2004-2021 Leiden University Medical Center 		There are currently no updates.