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GENATLAS PHENOTYPE

last update : 09-05-2023

Symbol	DDIDE
Location	11q24.2
Name	developmental delay, intellectual disability, epilepsy
Corresponding gene	ESAM
Main clinical features	profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications,also observed in the fetuses absent or severely delayed speech, epilepsy, spasticity (mainly consisting of spastic tetraparesis), hypotonia (which frequently occurred neonatally), and dilation of lateral ventricles dysmorphic facial features were noted in most individuals, mainly consisting of bitemporal narrowing, highly arched eyebrow and bulbous nasal tip.
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)