Pontocerebellar hypoplasia – AMPD2 CLP1 EXOSC3 EXOSC8 RARS2 SEPSECS TBC1D23 TOE1 TSEN2 TSEN54 VPS53 VRK1 December 8, 2020 Read More »
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Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion – VLDLR December 8, 2020 Read More »