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Microcephalic osteodysplastic primordial dwarfism (types I - III)
Relevant markers:
Short corpus callosumLissencephalyAgenesis of vermisBeaked noseMicrognathia/retrognathiaClinodactyly 5th fingerShort first metacarpalSmall iliac wingsParents markers:MicrocephalyAgenesis of corpus callosum (ACC)EarsShort limbsNeural tube defectPlatyspondylyIntrauterine growth retardation (IUGR/SGA/FGR)
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