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Human Disease and Mouse Model Detail
Human Disease Baraitser-Winter Syndrome 1; BRWS1
OMIM ID: 243310
Human Phenotype Ontology associations
Synonyms Cerebrofrontofacial Syndrome; Cerebrooculofacial Lymphatic Syndrome; COFLS; Fryns-Aftimos Syndrome; Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation; Mental Retardation with Epilepsy and Characteristic Facies; Pachygyria, Mental Retardation, Epilepsy, and Characteristic Facies
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     ACTB* Actb   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory