Female, age 8, with intractable seizures, large head size (macrocephaly), global developmental delay, and abnormal posturing due to involuntary muscle contractions (dystonia) caused by a variant in the PPFIA3 gene
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Female, age 5, with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia)
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Female, age 1, with low T-cell lymphocyte levels (T-cell lymphopenia) and immune system abnormalities (decreased IgG level in blood) caused by a change in the RPA1 gene.
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Female, age 5, with seizures, ataxia, brain abnormalities, small head size (postnatal microcephaly), and severe expressive and receptive language delay.
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Male, age 8, with global developmental day, autism, and uncoordinated walking (gait ataxia) caused by a change in the MTSS2 gene
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Male, age 24, with seizures, skeletal differences (Madelung deformity, scoliosis, pectus excavatum, club foot), and global developmental delay caused by a variant in RNF13.
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Female, age 3, with facial differences, heart abnormalities (hypoplastic left heart syndrome, mitral regurgitation, aortic insufficiency), kidney abnormalities (vesicoureteral reflux, hydronephrosis, medullary nephrocalcinosis) and global developmental delay.
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Male, age 15, with plastic bronchitis, recurrent pneumonia and ear infections (otitis media).
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Female, age 7, with respiratory failure, feeding difficulties and global developmental delay caused by changes in the TBCK gene
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