Legius syndrome ( NF1-like syndrome Neurofibromatosis 1-like syndrome )

It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, Its prevalence is unknown.
Transmission: Autosomal dominant
It belongs to the Group of Congenital malformations, deformations and chromosomal abnormalities disorders.
The gene involved is sprouty-related, EVH1 domain containing 1 ("SPRED1")
Classified by:
ENSEMBL ("ENSG00000166068")
GENATLAS ("SPRED1")
HGNC ("20249")
OMIM ("609291")
UNIPROTKB/SWISSPROT ("Q7Z699")

Ultimo aggiornamento :
01-07-2014
Orphanumber :
137605
Credits: Orphanet

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