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Donnai-Barrow syndrome
Relevant markers:
HypertelorismOmphaloceleCongenital diaphragmatic hernia (CDH)Parents markers:Agenesis of corpus callosum (ACC)
Involved genes:
(gene — definition — chromosome)LRP2 — LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2 — 2q31.1 Inheritance mode: AR References: 2020 Am J Med Genet A Case report Read on PubMed Login for more details.