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Paper Details

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Am J Med Genet A
5
2020
AMPD2, AMPD2 gene, COL11A1, COL11A1 variant, PCH9, Pontocerebellar hypoplasia type 9, Pro734Leu, Stickler syndrome type 2, alternatively spliced region, asymmetric astigmatism, autosomal recessive neurodevelopmental disorder, c.1168G>T, c.2201C> T, eye abnormalities, global developmental delay, high myopia, hypotonia, musculoskeletal abnormalities, neurodevelopmental disability, pontocerebellar hypoplasia type 9, sensorineural hearing loss
Author NameAffiliation
Daniel C KoboldtThe Institute for Genomic Medicine at Nationwide Children's Hospital
Daniel C KoboldtThe Ohio State University
Julie M Gastier-FosterThe Institute for Genomic Medicine at Nationwide Children's Hospital
Julie M Gastier-FosterThe Ohio State University
Julie M Gastier-FosterThe Ohio State University
Julie M Gastier-FosterThe Institute for Genomic Medicine at Nationwide Children's Hospital
Julie M Gastier-FosterThe Ohio State University
Julie M Gastier-FosterThe Ohio State University
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