[Blepharophimosis, ptosis and epicanthus inversus syndrome plus sensorineural deafness].
Pérez-Caballero Macarrón
C
C
Sección de Neuropediatría, Hospital Ramón y Cajal, Madrid.
Quintana Castilla
A
A
Aparicio Meix
J M
JM
D000328:Adult; D016569:Blepharophimosis / Q000150:complications* / Q000235:genetics; D001763:Blepharoptosis / Q000150:complications* / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities*; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D013577:Syndrome