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GENATLAS PHENOTYPE

last update : 24-12-2012

Symbol	LJFS1
Location	Xq13.1
Name	Lujan-Fryns syndrome 1
Corresponding gene	MED12
Main clinical features	marfanoid habitus and similar craniofacial changes: long, narrow face, small mandible, high-arched palate, and hypernasal voice tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioural aberrations and dysgenesis of the corpus callosum
Genetic determination	sex linked
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)

dysregulated GLI3-dependent SHH signaling due to MED12 mutation contributes to phenotypes of individuals with FGS1 (PMID: 2309100)