HHH syndrome associated with callosal agenesis and disordered neuronal migration.
Gallagher
A C
AC
Pike
M
M
Standing
S
S
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D001998:Bronchopulmonary Sequestration / Q000175:diagnosis* / Q000235:genetics; D002956:Citrulline / Q000031:analogs & derivatives / Q000652:urine*; D003241:Consanguinity; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009952:Ornithine / Q000097:blood*; D010641:Phenotype; D013577:Syndrome
C001352:homocitrulline; D002956:Citrulline; D009952:Ornithine