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GENATLAS PHENOTYPE
last update : 11-06-2019
Symbol BAMS
Location 18p11.32
Name Bosma arhinia microphthalmia syndrome
Corresponding gene SMCHD1
Main clinical features
  • characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence
  • impaired vision with cataracts and colobomata
  • MRI revealed absent olfactory bulbs
  • Genetic determination autosomal dominant
    Function/system disorder eye
    other
    sex-genitalia
    Type disease
    Remark(s)