Phenotypes for disease #00593 (RIDDLE syndrome, OMIM:611943)

5 entries on 1 page. Showing entries 1 - 5.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000245491 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. Unknown syndromic hearing/vision loss - Familial, autosomal dominant - - - - lancedoucette Lance P Doucette 00327005
0000245492 Breast cancer Breast Cancer - Unknown - 31y - - - Lance P Doucette 00327005
0000245494 -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 - - Familial, autosomal dominant 11y - - - - Lance P Doucette 00327049
0000245496 -RIDDLE-like presentation -Mild to moderate hearing loss -Developmental delay -3-10th %ile height -25th %ile weight -2-50th %ile head circumference -micrognathia. - - Familial, autosomal dominant 04y - - - - Lance P Doucette 00327051
0000245497 Bilateral congenital cataracts, Esotropia, Amblyopia - - Familial, autosomal dominant - - - - - Lance P Doucette 00327051
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