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GENATLAS PHENOTYPE

last update : 30-06-2012

Symbol	BOPS
Location	20q11.1
Name	Bohring-Opitz syndrome
Other name(s)	Opitz trigonocephaly -like syndrome
Corresponding gene	ASXL1
Main clinical features	severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, microcephaly, micro/retrognathia flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	osteo-articular
Type	disease

Remark(s)