Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype.
Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom.
Marion S
MS
Croft
Peter D
PD
Turnpenny
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D016569:Blepharophimosis / Q000235:genetics* / Q000473:pathology; D001763:Blepharoptosis / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D012080:Chronic Kidney Disease-Mineral and Bone Disorder / Q000235:genetics / Q000473:pathology; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics* / Q000473:pathology; D005532:Foot Deformities, Congenital / Q000235:genetics / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology; D006801:Humans; D010641:Phenotype