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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Male, age 12, with overgrowth and developmental delay caused by a change in the GNAS gene
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Female, age 3 with pontocerebellar hypoplasia, type 2D caused by changes in the SEPSECS gene
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Male, age 4, with low muscle tone (hypotonia), seizures (epilepsy), and developmental delay
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Male, age 4, with absent speech, low muscle tone (hypotonia), developmental delay, small head size (microcephaly), and short stature
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Male, age 4, with a history of infantile spasms and an undiagnosed metabolic disorder (elevated alanine and lactate).
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