Before revision: trisomy 13 Pituitary dwarfism/growth hormone deficiency(in adults) Prader–Willi syndrome Rett syndrome Septo-optic dysplasia (de Morsier syndrome) Snyder–Robinson syndrome (SRS) Spinal muscular atrophy (SMA) Succinic semialdehyde dehydrogenase deficiency (SSADH) Tay–Sachs disease Werdnig–Hoffmann syndrome – Spinal muscular atrophy with congenital degeneration of anterior horns of spinal cord.
After revision: PURA syndrometrisomy 13 Pituitary dwarfism/growth hormone deficiency(in adults) Prader–Willi syndrome Rett syndrome Septo-optic dysplasia (de Morsier syndrome) Snyder–Robinson syndrome (SRS) Spinal muscular atrophy (SMA) Succinic semialdehyde dehydrogenase deficiency (SSADH) Tay–Sachs disease Werdnig–Hoffmann syndrome – Spinal muscular atrophy with congenital degeneration of anterior horns of spinal cord.