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GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	AHDS
Location	Xq13.2
Name	Allan-Herndon-Dudley syndrome
Other name(s)	spastic paraplegia 22
Corresponding gene	SLC16A2
Other symbol(s)	AHS, SPG22
Main clinical features	congenital hypotonia that progresses to spasticity with severe psychomotor delays mental retardation, with spastic paraplegia, ataxia, absent speech, abnormal thyroid function, reduced muscle mass, and delay of developmental milestones, generalized weakness manifested by excessive drooling, forward positioning of the head and neck, muscle hypoplasia, generalized muscle weakness, and limited speech face tends to be elongated with bifrontal narrowing, and the ears are often simply formed or cupped, myopathic facies
Genetic determination	sex linked
Function/system disorder	congenital malformation
	mental retardation
Type	disease

Gene product

Name	solute carrier family 16 (monocarboxylic acid transporters), member 2

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		truncated protein	decreasing cellular hormone T3 uptake and intracellular T3 metabolism

Remark(s)