Term:Keppen-Lubinsky Syndrome
go back to main search page
Accession:DOID:9007674 term browser browse the term
Definition:A very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and characteristic dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth. (OMIM)
Synonyms:exact_synonym: KPLBS
 primary_id: OMIM:614098;   RDO:9001621
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium voltage-gated channel subfamily J member 6 JBrowse link 11 35,011,007 35,262,362 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Keppen-Lubinsky Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Keppen-Lubinsky Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.