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GENATLAS PHENOTYPE

last update : 16-07-2018

Symbol	IDMAN
Location	19q13.2
Name	Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy
Corresponding gene	SPTBN4
Main clinical features	severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy spectrinopathy that disrupts excitable domains in axons severe hypotonia and global developmental delays; feeding difficulties were common during infancy, leading to gastrostomy tube in all affected individuals; progressive neuropathy was implied by a loss of deep tendon reflexes by early childhood; severe hypotonia and global developmental delays; severe cognitive delays, with no language development, and central-vision impairment epilepsy was a prominent clinical feature
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	MCA/MR

Remark(s)

. variants in SPTBN4 cause profound neurological dysfunction, probably by reducing or disrupting the clustering of Na+ and KCNQ2- and KCNQ3-subunit-containing K+ channels (PMID: 29861105))