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GENATLAS PHENOTYPE
last update : 27/07/2006
Symbol MLNS
Location Xq28
Name Melnick-Needles syndrome
Other name(s) Melnick-Needles osteodysplasty
Corresponding gene FLNA
Main clinical features
  • typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull
    • Genetic determination sex linked
    Function/system disorder osteo-articular
    connective tissue
    Type disease
    Gene product
    Name filamin A
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutation in exon 22