autosomal dominant Robinow syndrome 2

Summary
Synonym
  • DRS2
Definition
A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
Super Class
Robinow syndrome autosomal dominant disease
External Links
Disease Ontology
DOID:0060765
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 35 in total
Gene ID Gene Symbol Description Source
35 ACADS acyl-CoA dehydrogenase short chain
142 PARP1 poly(ADP-ribose) polymerase 1
275 AMT aminomethyltransferase
410 ARSA arylsulfatase A
412 STS steroid sulfatase
414 ARSD arylsulfatase D
570 BAAT bile acid-CoA:amino acid N-acyltransferase
847 CAT catalase
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1605 DAG1 dystroglycan 1

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Last updated: August 19, 2024