List of variants studied for Ear malformation; Failure to thrive; Hypotelorism; High palate; Pes planus; Hypernasal speech; Delayed speech and language development; Triangular face; Intellectual disability, mild; Generalized hypotonia; Leukopenia; Normocytic anemia; Clinodactyly; Attention deficit hyperactivity disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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