Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 17-11-2021

Symbol	NEDSPLB
Location	22q11.21
Name	neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities
Other name(s)	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Corresponding gene	PI4KA
Other symbol(s)	PMGYCHA
Main clinical features	spasticity, hypomyelinating leukodystrophy, and brain abnormalities global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)