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GENATLAS PHENOTYPE

last update : 07-04-2009

Symbol	MDS
Location	17p13.3
Name	Miller-Dieker lissencephaly syndrome
Corresponding gene	PAFAH1B1 , YWHAE
Other symbol(s)	DEL17P13, MDLS
Main clinical features	lissencephaly, severe to profound mental retardation characteristic facial appearance (bitemporal hollowing, frontal bossing, tall square forehead, flattened midface, short upturned nose, prominent upper lip) and other anomalies agenesis of corpus callosum
Genetic determination	chromosomal
Function/system disorder	multisystem/generalized
	neurology
	mental retardation
Type	MCA/MR

Gene product

Name	lissencephaly gene LIS1/PAFAH1B1 and other unidentified components

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion	haploinsufficiency	microdeletion of 17p13.3 including the LIS1/PAFAH1B1 gene, usually cryptic, terminal or interstitial detected by FISH
	translocation	haploinsufficiency	unbalanced form with der(17)of familial, often cryptic, reciprocal translocations
	ring	haploinsufficiency

Remark(s)

contiguous gene syndrome

Genotype/Phenotype correlations

patients with deletions involving YWHAE but not PAFAH1B1 present with growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment