Roberts-SC Phocomelia Syndrome
| Disease Aliases (19) | Appelt-gerken-lenz syndrome Hypomelia hypotrichosis facial hemangioma syndrome Hypomelia-hypotrichosis-facial hemangioma syndrome Long bone deficiencies associated with cleft lip-palate Pseudothalidomide syndrome Rbs Roberts syndrome Roberts syndrome; rbs Robert's syndrome Roberts syndrome/sc phocomelia Roberts tetraphocomelia syndrome Roberts-sc phocomelia syndrome Sc pseudothalidomide syndrome Sc phocomelia syndrome (mild variant of roberts syndrome) Sc syndrome Tetraphocomelia-cleft palate syndrome Phocomelia-pseudothalidomide syndrome |
Associated Genes (1) NCBI-RefSeq: ESCO2 (Establishment of sister chromatid cohesion N-acetyltransferase 2) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Roberts-SC phocomelia syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |