An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).
Sanal
O
O
Yel
L
L
Kucukali
T
T
Gilbert-Barnes
E
E
Tardieu
M
M
Texcan
I
I
Ersoy
F
F
Metin
A
A
de Saint Basile
G
G
D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics* / Q000503:physiopathology; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D020460:Melanosomes / Q000473:pathology*; D019957:Motor Skills Disorders / Q000235:genetics* / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000235:genetics* / Q000503:physiopathology; D009218:Myosins / Q000235:genetics; D013577:Syndrome
D018389:Codon, Nonsense; D009218:Myosins