UDN

Solving Medical Mysteries
Through Team Science

Participant 165

 

Female, age 48, with itchy skin inflammation (atopic dermatitis) and allergies (allergic rhinitis) caused by a change in the FLG gene

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Participant 164

 

Female, age 25, with severe intellectual disability, seizures, and absent speech caused by a change in the CDK19 gene

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Participant 163

 

Male, age 27, with progressive mental deterioration, seizures, and brain abnormalities

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Participant 162

 

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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Participant 161

 

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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Participant 160

 

Male, age 7, with episodic fevers, food intolerance, projectile vomiting, and chronic constipation

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Participant 159

 

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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Participant 158

 

Female, age 5, with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia)

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Participant 157

 

Male, age 36, with distal myopathy 5 (OMIM 617030) caused by changes in the ADSSL1 gene

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Participant 156

 

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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