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GENATLAS PHENOTYPE

last update : 20-03-2019

Symbol	LAMSHF
Location	12p12.1
Name	Lamb-Shaffer syndrome
Corresponding gene	SOX5
Main clinical features	neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, mild motor impairment, and mild dysmorphic facial features, behavior abnormalities speech delay and dysmorphisms such as strabismus, frontal bossing, ear abnormalities, and low nasal bridge
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	ear
Type	disease

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