UniProtKB/Swiss-Prot : 75 SC phocomelia syndrome: Has a milder phenotype than RBS, with a lesser degree of symmetric limb reduction and additionally includes flexion contractures of various joints, midfacial hemangioma, hypoplastic cartilage of ears and nose, scant silvery-blond hair, and cloudy corneae. Although microcephaly is present, mental retardation may be mild and survival into adulthood is common.
Disease Ontology : 12 An autosomal recessive disease that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has material basis in the mutation in the ESCO2 gene.
Search GEO for disease gene expression data for Sc Phocomelia Syndrome.