Male, age 1, with skeletal and brain anomalies, cloudy corneas, and adrenal insufficiency
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Male, age 4, with global developmental delay, brain abnormalities, seizures, and hearing and vision loss
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Male, age 12, with rapid progression of muscle weakness, problems with coordination (ataxia), difficulty speaking (dysarthria), and severe cerebellar atrophy on brain imaging
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Female, age 5, with severe failure to thrive, low muscle tone, absence seizures, global developmental delay, scoliosis, high pain tolerance, and areas of darker and lighter skin on her right leg caused by triploidy mosaicism
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Male, age 13, with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), & curvature of the spine (kyphosis, scoliosis)
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Female, age 3, with a skeletal disorder thought to be caused by two variants in the TRIP11 gene
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Male, age 56, with lower motor neuron disease, muscle weakness, and muscle twitching (fasciculations)
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Male, age 25, with seizures, curvature of the spine (scoliosis), weak and brittle bones (osteoporosis), joint pain, and nontraumatic spine and rib fractures
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Male, passed away at age 2, with symptoms characteristic of You-Hoover-Fong syndrome thought to be caused by genetic changes in the TELO2 and TTI2 genes
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Male, age 7, with global developmental delay, abnormal muscle contractions (dystonia), repetitive behaviors (stereotype), and decreased tear secretion and sweating
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