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GENATLAS PHENOTYPE
last update : 4/06/2008
Symbol ANDE
Location 7q32.1
Name alopecia, neurological defect and endocrinopathy syndrome
Corresponding gene RBM28
Main clinical features
  • alopecia or hypotrichosis, gynecomastia, hypodontia and tooth malpacement microcephaly, kyphoscoliosis, limb contractures, hypogonadism hypogonadotrophic, central adrenal insufficiency . associated to small stature and mental retardation
    • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function homozygous mutation