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GENATLAS PHENOTYPE

last update : 11-12-2019

Symbol	MCCRP1
Location	22q13.33
Name	microcephaly and chorioretinopathy, autosomal recessive, 1
Corresponding gene	TUBGCP6
Main clinical features	developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature short stature (up to -3.45 SD), delayed psychomotor development, and cone-rod retinal dystrophy.
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
	mental retardation
Type	disease

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