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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Female, age 8 with multiple dysmorphic features, global developmental delay, and epileptic encephalopathy
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Female, age 15, with unsteady gait (gait ataxia), intellectual disability, absent speech, and seizures
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Female, age 3, with multiple congenital anomalies of the hands (bent fingers, 3-4 finger syndactyly, hypoplastic fingernails), feet (bilateral foot ectrodactyly, talipes equinovarus ), eyes (microphthalmia, multiple colobomas, malformed globes), and kidneys (bilateral renal dysplasia) caused by a change in the AXIN2 gene
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Male, age 68, with a decrease in blood pressure when moving from sitting to standing (orthostatic hypotension due to autonomic dysfunction), daytime drowsiness (narcolepsy), and cataracts caused by changes in the CHRNA3 gene.
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Female, age 29, with global developmental delay, intellectual disability, brain abnormality (Arnold-Chiari type I malformation), overactive thyroid (hyperthyroidism), and brittle bones (osteopenia) caused by a variant in the BCL11B gene.
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