Congenital and Familial Ophthalmoplegia

Congenital external ophthalmoplegia.

Congenital and Familial Lipodystrophy Panel

Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrop...

Congenital and Familial Lipodystrophy Panel

Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrop...

Congenital and Familial Lipodystrophy Panel

Inheritance of congenital lipodystrophy is autosomal recessive, while it is autosomal dominant for familial lipodystrophy. In addition to congenital and familial lipodystrophies, this Panel has differentail diagnostics power to some rare phenotypes with overlapping symptoms. These include for example hypoinsulinemic hypoglycemia with hemihypertrophy and mandibuloacral dysplasia with lipodystrop...

Familial Congenital Heart Disease

GENETIC imbalance, the result of aneuploidy or chromosomal structural rearrangements, is now recognized as a cause of anomalous embryogenesis. In general, the anomalies have been extensive and severe when the chromosomal abnormalities have affected segments lengthy enough to be detected by use of currently available techniques. The purposes of the present study were: (1) to determine the incide...