Phenotypes for disease #00112

19 entries on 1 page. Showing entries 1 - 19.
Legend  

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     

Individual ID     
0000001879 - Isolated (sporadic) - - - - - - - Marcel Nelen 00003028
0000001935 - Familial, autosomal recessive - - - - - - - Laura Pearce 00003093
0000015025 - Familial, autosomal recessive - - - - - ataxia, retinal dystrophy, neuropathy - Jill Urquhart 00016423
0000015164 - Familial, autosomal recessive - - - - - characteristic arRP with hypopigmented macular atrophy and bear track changes; bilateral congenital subclinical renal cysts; mild cognitive impairment - Heleen Arts 00016548
0000015171 - Isolated (sporadic) - - - - - characteristic arRP findings with hypopigmented macular atrophy and 'bear track' changes - Heleen Arts 00016542
0000046279 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00059787
0000046280 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00059788
0000046281 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00059789
0000046283 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00059791
0000046284 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00059792
0000046285 - Familial, autosomal recessive - - - - - - - Leen Abu Safieh 00059793
0000046289 - Familial, autosomal recessive - - - - - - - Alice Davidson 00059797
0000046389 - Isolated (sporadic) - - - - - - - Ivo F.A.C. Fokkema 00059897
0000046417 - Familial, autosomal recessive - - - - - - - Marta de Castro-MirĂ³ 00059925
0000046698 - Familial, autosomal dominant - - - - - - - Marcel Nelen 00060208
0000046699 - Familial, autosomal dominant - - - - - - - Marcel Nelen 00060209
0000121746 Myoclonus-ataxia; Corticobasal Syndrome Familial, autosomal dominant 61y - - - - - - Marc Cruts 00149330
0000138757 retinitis pigmentosa Familial, autosomal recessive - RP-38 - - - - - Fei Wang 00001795
0000138758 retinitis pigmentosa Familial, autosomal recessive - RP-38 - - - - - Fei Wang 00001796
Legend