A new syndrome with ptosis, coloboma and mental retardation.
Le Marec
B
B
Pédiatrie-Génétique Médicale, Rennes, France.
Odent
S
S
Urvoy
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D010641:Phenotype