Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 16-11-2021

Symbol	NICHD
Location	6q14
Name	neuro-ichthyotic disease
Other name(s)	Ichthyosis, spastic quadriplegia, and mental retardation
Corresponding gene	ELOVL4
Other symbol(s)	ISQMR
Main clinical features	ichthyosis, seizures, mental retardation, and spasticity generalized erythematous ichthyosis with fine scales over most of the body profound developmental delay had been evident since early infancy, recalcitrant seizures on MRI severely delayed myelination and evidence of brain atrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
	mental retardation
	dermatology
Type	disease

Remark(s)