Disease #00648 (RBS (syndrome, Roberts (RBS)), OMIM:268300)

Official abbreviation RBS
Name syndrome, Roberts (RBS)
OMIM ID 268300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 40
Phenotype entries for this disease 40
Associated with 1 gene ESCO2
Associated tissues -
Disease features -
Remarks -


Individuals

40 entries on 1 page. Showing entries 1 - 40.
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00112160 - PubMed: Vega 2005 - - - Italy - - 0 - - RBS Family 9 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112161 - PubMed: Gordillo 2008 - - - United States - - 0 - - RBS Family 1 ESCO2 ESCO2 2 1 The Parkinson's Institute - Birgitt Schuele
00112162 - PubMed: Schule 2005 - F - - Hispanic - 0 - - RBS Family 4 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112163 - PubMed: Gordillo 2008 - - - United States - - 0 - - RBS Family 2 ESCO2 ESCO2 2 1 The Parkinson's Institute - Birgitt Schuele
00112164 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 15 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112165 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 4 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112166 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 5 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112167 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 7 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112169 - PubMed: Resta 2006 - - - - - - 0 - - RBS case report ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112170 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 1 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112171 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 2 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112172 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 3 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112173 - PubMed: Vega 2005 - - - Colombia - - 0 - - RBS Family 6 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112174 - PubMed: Schule 2005 - F - - Caucasian - 0 - - RBS Family 5 ESCO2 ESCO2 2 1 The Parkinson's Institute - Birgitt Schuele
00112176 - PubMed: Gordillo 2008 - - - Mexico - - 0 - - RBS Family 3 ESCO2 ESCO2 1 2 The Parkinson's Institute - Birgitt Schuele
00112177 - PubMed: Gordillo 2008 - - - Italy - - 0 - - RBS Family 4 ESCO2 ESCO2 2 1 The Parkinson's Institute - Birgitt Schuele
00112178 - - - F - Somalia - - 0 - - RBS - ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112179 - PubMed: Gordillo 2008 VU1366 - - Tunisia - - 0 - - RBS Family 5 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112180 - PubMed: Gordillo 2008 ID#3309 - - France - - 0 - - RBS Family 6 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112181 - - - M - Brazil - - 0 - - RBS - ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112182 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 12 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112183 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 13 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112184 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 14 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112185 - PubMed: Gordillo 2008 ID#VU1400 - - Netherlands - - 0 - - RBS Family 7 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112186 - PubMed: Gordillo 2008 ID#3406 - - Turkey - - 0 - - RBS Family 8 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112187 - PubMed: Gordillo 2008 ID#KAT - - Turkey - - 0 - - RBS Family 9 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112188 - PubMed: Gordillo 2008 ID#SRSyM1 - - Sudan - - 0 - - RBS Family 10 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112189 - PubMed: Schulz 2008 - - - Pakistan - - 0 - - RBS case report ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112190 - PubMed: Gordillo 2008 ID#60749 - - Pakistan - - 0 - - RBS Family 11 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112191 - - - - - - Indian - 0 - - RBS - ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112193 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 11 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112194 - PubMed: Gordillo 2008 - - - Denmark - - 0 - - RBS Family 12 ESCO2 ESCO2 2 1 The Parkinson's Institute - Birgitt Schuele
00112196 - PubMed: Gordillo 2008 ID#3303 - - Turkey - - 0 - - RBS Family 13 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112197 - PubMed: Gordillo 2008 ID#3314 - - Finland - - 0 - - RBS Family 14 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112198 - PubMed: Vega 2005 - - - Turkey - - 0 - - RBS Family 10 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112199 - PubMed: Gordillo 2008 UIM - - Italy - - 0 - - RBS Family 15 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112200 - PubMed: Vega 2005 - - - Canada - - 0 - - RBS Family 8 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00112201 - PubMed: Gordillo 2008 ID#RIS - - Israel - - 0 - - RBS Family 16 ESCO2 ESCO2 1 1 The Parkinson's Institute - Birgitt Schuele
00132072 1 - - F no Brazil - - 0 - - RBS - ESCO2 ESCO2 2 1 Karina Silveira
00183239 - - - F yes Iran - >02y 0 - - RBS bilateral radial ray hypoplasia, absent thumbs, bilateral club feet, knee joints stiffness, craniosynostosis, a large frontal hemangioma, craniofacial dysmorphisms (large alae nasi, small nose with deep nasal bridge, arched palate, micrognathia, simple ears, short neck), bilateral glaucoma, hypotonia, neurodevelopmental delay. ESCO2 ESCO2 1 1 Elisa Adele Colombo
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