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GENATLAS PHENOTYPE

last update : 10-10-2022

Symbol	IDSSA
Location	7p22.1
Name	Intellectual developmental disorder with short stature and variable skeletal anomalies
Corresponding gene	WIPI2
Main clinical features	severely impaired intellectual development with low IQ, speech and language impairment, and delayed acquisition of fine and gross motor milestones brain imaging showed global brain volume loss; skeletal abnormalities included short stature, camptodactyly, fifth finger clinodactyly, thumb hypoplasia, overlapping toes, and kyphosis or lumbar vertebral abnormalities
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	mental retardation
	osteo-articular
Type	disease

Remark(s)