Definition

A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22.

Synonyms

Opitz G/BBB Syndrome
Opitz GBBB syndrome type I

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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Opitz GBBB syndrome

Opitz GBBB syndrome

Associated Genes

Associated Alleles

Associated Models