Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia.
Zannolli
R
R
Inchingolo
G
G
Serracca
L
L
Miracco
C
C
De Santi
M M
MM
Malandrini
A
A
Biagioli
M
M
Perotti
R
R
Baldi
C
C
Nuti
D
D
Polito
E
E
Gonnelli
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D000273:Adipose Tissue / Q000473:pathology; D000505:Alopecia / Q000235:genetics; D001706:Biopsy; D001763:Blepharoptosis / Q000235:genetics; D001851:Bone Diseases, Metabolic / Q000235:genetics; D002524:Cerebellar Ataxia / Q000235:genetics; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005138:Eyebrows / Q000002:abnormalities*; D006801:Humans; D007592:Joint Diseases / Q000235:genetics; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D010641:Phenotype; D012867:Skin / Q000473:pathology; D013285:Strabismus / Q000235:genetics; D013577:Syndrome