Male, age 25, with absent shoulder muscles (congenital bilateral absence of deltoid muscles), underdeveloped bicep tendons, developmental delay, joint hyper-mobility, and skeletal abnormalities caused by a change in the CDH2 gene
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Male, age 6, with global developmental delay, problems with coordination (ataxia) and repetitive, uncontrolled eye movements (downbeat nystagmus) caused by a change in the DAGLA gene
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Male, age 8, with muscle weakness, hypotonia, and elevated serum creatine kinase caused by a change in the LMNA gene
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Male, age 7, with global developmental delay, tight muscles in his legs (increased muscle tone and spasticity), decreased muscle tone in his shoulders and waist (central hypotonia), and regression caused by a change in the PRUNE1 gene
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Female, age 8, with a movement disorder, global developmental delay, low muscle tone (hypotonia), and brain abnormalities (hypomyelination, cerebellar atrophy) caused by a change in the TOMM70 gene
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Male, age 5, with multiple bowel atresias prior to birth (meconium peritonitis), blocked bile ducts (biliary atresia), stroke, hypertension, hypoglycemia, pancreatic insufficiency, hypotonia and global developmental delay
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Female, age 48, with itchy skin inflammation (atopic dermatitis) and allergies (allergic rhinitis) caused by a change in the FLG gene
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Female, age 25, with severe intellectual disability, seizures, and absent speech caused by a change in the CDK19 gene
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Male, age 27, with progressive mental deterioration, seizures, and brain abnormalities
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Female, age 9, with brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy), stiffness of the legs (spastic paraplegia) and muscle fiber disease (myopathy)
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