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Knobloch syndrome
Relevant markers:
Agenesis of vermisMicrocephalyMicrognathia/retrognathiaPosterior encephalocele
Incidence: - — 1/100000 Involved genes:
(gene — definition — chromosome)COL18A1 — COLLAGEN, TYPE XVIII, ALPHA-1 — 21q22.3 Inheritance mode: AR References: 2007 Am J Med Genet A Case report Read on PubMed Login for more details.