Additional Disease Briefs

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Biemond syndrome type 2

Also known as: BIEMOND syndrome II, BS2, Biemond syndrome 2, Biemond syndrome type 2, hypogonadism-short stature-coloboma-preaxial polydactyly syndrome, iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly, iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly


Bietti crystalline corneoretinal dystrophy

Also known as: BCD, Bietti crystalline corneoretinal dystrophy, Bietti crystalline dystrophy, Bietti crystalline retinopathy, Bietti tapetoretinal Degeneration with marginal corneal dystrophy, Bietti's crystalline dystrophy








bilateral generalized polymicrogyria

Also known as: MSSP, PMGYS, bilateral generalized polymicrogyria, microcephaly, short stature, and polymicrogyria with or without seizures, microcephaly, short stature, and polymicrogyria with seizures, polymicrogyria with seizures