Female, age 8, with sudden behavioral change, developmental regression, repetitive speech (echolalia), and brain abnormalities
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Male, age 62, with tall stature, a protruding area at the back of the head (occipital protuberance), atrial fibrillation, fragile and sagging skin, bowel diverticulitis, and chronic diarrhea
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Female, age 49, with a history of a splenic artery aneurysm and gallbladder inflammation (cholecystitis), joint and muscle pain and weakness, and memory impairment
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Female, age 10, with developmental delay, joint contractures, seizures, and multiple birth defects caused by a change in the ZC4H2 gene
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Male, age 4, with developmental delay, difficulty coordinating voluntary muscle movements (ataxia), autistic behaviors, and different facial features
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Male, age 20, with developmental regression, paralysis (spastic tetraplegia), and brain damage (cerebellar atrophy) caused by a change in the IRF2BPL gene
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Male, age 34, with multiple benign fatty tumors under the skin (adiposis dolorosa, angiolipomatosis)
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Male, age 17, with short stature, intellectual disability, heart disease, seizures, low testosterone, episodes of sporadic high and low blood pressure, hypogonadism, slow cognitive function, thrombocytopenia, kidney disease, osteoporosis, and spondyloarthritis caused by a change in the SPOP gene
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Male, age 11, with intellectual disability, absent speech, and very happy disposition caused by a change in the SMARCC2 gene.
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Male, age 40, with mucopolysaccharidosis type IIIC (Sanfilippo C) caused by genetic changes in the HGSNAT gene
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