HHH syndrome associated with callosal agenesis and disordered neuronal migration

MeSH terms

• Abnormalities, Multiple / diagnosis*
• Abnormalities, Multiple / genetics
• Agenesis of Corpus Callosum*
• Bronchopulmonary Sequestration / diagnosis*
• Bronchopulmonary Sequestration / genetics
• Citrulline / analogs & derivatives
• Citrulline / urine*
• Consanguinity
• Female
• Humans
• Hyperammonemia / diagnosis*
• Hyperammonemia / genetics
• Hyperammonemia / metabolism
• Infant
• Metabolism, Inborn Errors / diagnosis*
• Metabolism, Inborn Errors / genetics
• Metabolism, Inborn Errors / metabolism
• Ornithine / blood*
• Phenotype
• Syndrome