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GENATLAS PHENOTYPE

last update : 20-12-2014

Symbol	HRTFDS
Location	8p11.2
Name	Hartsfield syndrome
Corresponding gene	FGFR1
Main clinical features	triad of holoprosencephaly, ectrodactyly, and cleft/lip palate with profound mental retardation arhinencephaly, a mild expression of the holoprosencephaly, vermian hypoplasia, semilobar or lobar holoprosencephaly and hypoplasia or agenesis of the corpus callosum, cleft lip and or palate with ectrodactyly
Genetic determination	autosomal dominant
Function/system disorder	neurology
	mental retardation
	osteo-articular
Type	disease

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