Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype.
Chitty
L S
LS
Department of Paediatric Genetics, Hospitals for Sick Children, London, England.
McCrimmon
R
R
Temple
I K
IK
Russell-Eggitt
I M
IM
Baraitser
M
M
D000015:Abnormalities, Multiple; D000867:Anterior Chamber / Q000002:abnormalities; D001842:Bone and Bones / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009801:Oculomotor Muscles / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome