Male, age 27, with progressive mental deterioration, seizures, and brain abnormalities
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Female, age 9, with brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy), stiffness of the legs (spastic paraplegia) and muscle fiber disease (myopathy)
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Male, age 19, with short stature, heart abnormalities (vascular ring, right aortic arch), exercise intolerance, and abnormal location of the thymus (ectopic thymus tissue)
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Male, age 7, with episodic fevers, food intolerance, projectile vomiting, and chronic constipation
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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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Male, age 36, with distal myopathy 5 (OMIM 617030) caused by changes in the ADSSL1 gene
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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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