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Galloway-Mowat syndrome
Relevant markers:
MicrocephalyOligohydramniosPachygyriaReduced sulcationPoor myelination (MRI)Beaked noseClenched hand/sArachnodactylyParents markers:Hypoplasia/atrophy of cerebellumIntrauterine growth retardation (IUGR/SGA/FGR)Microphthalmia
Involved genes:
(gene — definition — chromosome)WDR73 — WD REPEAT-CONTAINING PROTEIN 73 — 15q25.2 Inheritance mode: AR Other online databases: OMIM References: 2011 Taiwan J Obstet Gynecol Case report Read on PubMed Login for more details.