Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema

Alias:

Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias

Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome

Schmitt-Gillenwater-Kelly Syndrome

Schmitt Gillenwater Kelly Syndrome

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Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema, also known as radial hypoplasia, triphalangeal thumbs and hypospadias, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and hypospadias. Related phenotypes are mandibular prognathia and abnormal dermatoglyphics

Related ID：

MALACARDS：RDL028

OMIM：179250