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Article

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.

American journal of medical genetics. Part A - 1 Mar 2020

Abreu Nicolas J, Koboldt Daniel C, Gastier-Foster Julie M, Dave-Wala Ashita, Flanigan Kevin M, Waldrop Megan A

Abstract excerpt

Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental disorder caused by pathogenic variants in the AMPD2 gene. We evaluated the son of a consanguineous couple who presented with profound hypotonia and global developmental delay. Other features included sensorineural hearing loss, asymmetric astigmatism, and high myopia. Clinical whole-exome sequence analysis identified a...

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Identifiers

PMID: 31833174
DOI: 10.1002/ajmg.a.61452

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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