Female, age 20, with dopamine deficiency and damaged nerves in her hands and feet (peripheral neuropathy) caused by a change in the DNM1L gene.
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Female, age 9, with childhood-onset chronic constipation, loss of bladder and bowel control (urinary incontinence and encopresis), and mild global developmental delay.
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Male, passed away at 19 months, with poor growth, small head (severe progressive microcephaly), global developmental delay, vision and hearing impairment, autoimmune disease, and brain abnormalities thought to be caused by a complex duplication involving the genes ATAD3B and ATAD3A and ATAD3C.
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Male, age 10, with seizures, structural brain abnormalities, and global developmental delay.
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Male, age 9, with seizures, developmental delay, and enlarged ears (macrotia)
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Male, age 18, with global developmental delay, autism, severe eczema, and multiple congenital anomalies
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Undiagnosed male, age 3, with neurodevelopmental delay, previously refractory focal epilepsy that is now well controlled, brain MRI abnormalities, and other physical differences related to the eyes, ears, and nose.
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Female, age 5, with Noonan syndrome, systemic-onset juvenile idiopathic arthritis, and multiple congenital anomalies.
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Female, age 20, with musculoskeletal and orthopedic anomalies caused by a change in the KIF5B gene.
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Female, age 10 with musculoskeletal anomalies, congenital heart disease, dysmorphic facial features, and global developmental delay
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