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Cerebro-oculo-facio-skeletal (COFS) syndrome
Relevant markers:
AnophtalmiaCataractMicrognathia/retrognathiaBilateral hypoplasia/atrophy of cerebellumParents markers:MicrocephalyAgenesis of corpus callosum (ACC)BrainMicrophthalmiaContractures/arthrogryposisScoliosis
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