Prolonged bleeding after the cleft palate repair at age 15 months was noted, prompting further investigations, which revealed that the INR was 5.4 and activated partial thromboplastin time was 88 seconds. [journals.lww.com]

The clinical manifestations and the age at onset of the syndrome are highly variable, ranging from protein-rich food intolerance, vomiting, and neurological signs such as lethargy, coma, seizures, progressive spastic paraparesis, and mental retardation [journals.lww.com]

Adults with the disorder present with vomiting, lack of energy, coordination difficulties, confusion, and blurred vision after eating high-protein meals or during stressful times. [sema4genomics.com]

One patient had cerebellar ataxia, myoclonus, convulsive seizure, and muscular weakness in both legs. [ncbi.nlm.nih.gov]

[…] disorders (Urea cycle disorders) [DS: H01398 ] Description Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder, characterized by mental retardation, progressive spastic paraparesis, seizures, and myoclonus [genome.jp]

At 12 months of age, she was referred to our center with a diagnosis of febrile seizures after a 2-day history of fever and cough. She was given antibiotics for the treatment of right lower lobe pneumonia. [journals.lww.com]

This is termed as tunnel vision Near vision or shortsightedness (myopia) Some individuals may have neuropathy affecting the peripheral nerves, resulting in symptoms such as numbness, tingling sensation, needle prick pain in the hands/feet Some individuals [dovemed.com]

The liver biopsy in our second patient did not show any signs of hepatic necrosis. [journals.lww.com]