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Opitz syndrome; Opitz GBBB syndrome, X-linked; Opitz syndrome type 1; hypertelorism-hypospadias syndrome; telecanthus-hypspadius syndrome
Pathology:
- Opitz syndrome mutations produce proteins with a decreased affinity for microtubules
Genetics:
- X-linked recessive
- associated with defects in MID1
Clinical manifestations:
- hypertelorism
- genital-urinary defects
- hypospadias in males
- splayed labia in females
- lip-palate-laryngotracheal clefts
- imperforate anus
- developmental delay
- congenital heart defects
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 300000
References
OMIM :accession 300000