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skos:definition |
JABL: This syndrome was originally reported as a nonspecific form of MXLR. The phenotype was later redefined to include large head, asthenic body build with diminished muscle bulk, marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, muscle hypotonia, and arachnodactyly), nasal speech, characteristic facies, scoliosis, thin fingers, and other anomalies.
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