Gene: [0Xp22/AIC] Aicardi syndrome (agenesis of corpus callosum/chorioretinal abnormality);
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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." |
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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 |
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KEY |
neu, eye |
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CLA |
unknown, basic |
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LOC |
0X p22 |
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MIM |
MIM: 304050 |
