Cardiomyopathy, hepatic dysfunction, eye anomalies, microcephaly, deafness, dysmorphism, neonatal hypoglycaemia, thrombocytopaenia and lactic acidosis have also been reported
[orpha.net]
[…] sepsis Frontotemporal cerebral atrophy Recurrent infection of the gastrointestinal tract Generalized neonatal hypotonia Intermittent diarrhea Thick hair Diffuse cerebral
[mendelian.co]
On physical examination, the infant was small but well-appearing, with a high-pitched cry when examined.
[healio.com]