Gene: [0Xp22/AIC] Aicardi syndrome (agenesis of corpus callosum/chorioretinal abnormality);

PAT

The usual clinical presentation is as follows: infantile flexion spasms, mental subnormality, specific chorioretinopathy, 'split brain,' heterotopia of the brain by pneumoencephalogram, vertebral anomalies."

REF

PAT,FOG "Aicardi J &: Arch Fr Pediatr, 26, 1103-1120, 1969
PAT,LOC,LIN,EXP "Ballabio A, Andria G: Hum Mol Genet, 1, 221-227, 1992
REV,PAT,EXP "Bertoni JM &: Ann Neurol, 5, 475-482, 1979
PAT,LOC,LIN "Nielsen KB &: Am J Med Genet, 38, 65-68, 1991
PAT,LOC,LIN "Ropers HH &: Hum Genet, 61, 364-368, 1982
REV,PAT,EXP "Schmidt M, Du Sart D: Am J Med Genet, 42, 161-169, 1992
REV,PAT,EXP "Yamamoto N &: Brain Develop, 7, 443-449, 1985

KEY

neu, eye

CLA

unknown, basic

LOC

0X p22

MIM

MIM: 304050