Congenital and Genetic Diseases
* Indicates a condition that is not a rare disease, but a condition that the GARD Information Center has received a question about.
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency
Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis
Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features