Robinow Syndrome, Autosomal Recessive 1 (RRS1)

Alias:

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs1

Rrs

Robinow Syndrome, Autosomal Recessive, with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals

Robinow Syndrome Autosomal Recessive with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals

Robinow Syndrome, Autosomal Recessive, with Brachy-Syn-Polydactyly

Robinow Syndrome Autosomal Recessive with Brachy-Syn-Polydactyly

Costovertebral Segmentation Defect with Mesomelia, Formerly

Costovertebral Segmentation Defect with Mesomelia

Robinow, Autosomal Recessive Syndrome, Type 1

Covesdem Syndrome, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Robinow Syndrome, Autosomal Recessive 1, also known as robinow syndrome, autosomal recessive, is related to robinow syndrome, autosomal dominant 2 and robinow syndrome, autosomal dominant 1. An important gene associated with Robinow Syndrome, Autosomal Recessive 1 is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and Signaling by WNT. Affiliated tissues include bone and tongue, and related phenotypes are hypertelorism and open bite

Related ID：

MALACARDS：RBN022

OMIM：268310

MESH：D004392