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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Male, age 5, with global developmental delay caused by a change in the MAPK8IP3 gene,
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Female, age 4, with seizures, global developmental delay, and underdeveloped optic nerve (optic nerve hypoplasia)
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Male, age 3, with global developmental delay, low muscle tone, and feeding difficulties
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