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GENATLAS PHENOTYPE

last update : 24-08-2020

Symbol	NEDHYMS
Location	21q22.3
Name	neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Corresponding gene	ADARB1
Main clinical features	global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language, also early-onset intractable seizures that prevent normal development; additional features include feeding difficulties with poor overall growth and microcephaly intractable early infantile-onset seizures, microcephaly, severe-to-profound intellectual disability, axial hypotonia and progressive appendicular spasticity (PMID: 32719099))
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)

. impairments in the RNA-editing ability of the resultant ADAR2 proteins, which are hypothesized to lead to increased Ca2+ permeability of AMPA receptors (PMID: 32220291))