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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

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