Main clinical features
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developmental delay, intellectual disability, seizures, dysmorphic facial features, mesomelic dysplasia, horseshoe or hypoplastic kidney, and failure to thrive
often associated with microcephaly, global brain atrophy and/or ventriculomegaly, hypertrichosis
fibular hypoplasia, vertebral and bone mineralization defects, scoliosis, horseshoe or hypoplastic kidney, abnormalities of muscle tone, gastroesophageal reflux disease or other gastrointestinal symptoms, also respiratory difficulties/pulmonary involvements |