GENETIC ENCYCLOPEDIA
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disease: Coffin-Lowry syndrome

id823
nameCoffin-Lowry syndrome
descriptionCoffin-Lowry syndrome (CLS) is usually characterized by severe-to-profound intellectual disability in males; less severely impaired individuals have been reported. Neuropsychiatric concerns can include behavioral problems, loss of strength, progressive spasticity or paraplegia, sleep apnea, or stroke. Stimulus-induced drop attacks (SIDAs) in which unexpected tactile or auditory stimuli or excitement triggers a brief collapse but no loss of consciousness are present in approximately 20% of affected individuals. Typically SIDAs begin between mid-childhood and the teens. Characteristic facial features may be more apparent with age. Upper-extremity differences may be subtle and include short, soft, fleshy hands with tapered fingers as well as fleshy forearms. Progressive kyphoscoliosis is one of the most difficult aspects of long-term care. Affected females tend to have intellectual disability in the mild to moderate range and may also have the typical facial, hand, and skeletal findings noted in males.
variant-disease NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) AND Coffin-Lowry syndrome
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) AND Coffin-Lowry syndrome
RPS6KA3, IVS5, A-G, -11 AND Coffin-Lowry syndrome
RPS6KA3, 3-BP DEL, 1428TAT AND Coffin-Lowry syndrome
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter) AND Coffin-Lowry syndrome
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