CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63 - Marsh, Ashley; Novarino, Gaia; Lockhart, Paul; Leventer, Richard (European Journal of Human Genetics, 2019)
Clinical Utility Gene Card. 1. Name of Disease (Synonyms): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63). 2. OMIM# of the Disease: 615809 and 615686. 3. Name of the Analysed Genes or DNA/Chromosome Segments: AMPD2 at 1p13.3. 4. OMIM# of the Gene(s): 102771.
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