[…] disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may
[orpha.net]
Homepage Rare diseases Search Search for a rare disease Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Disease definition A rare neurometabolic
[orpha.net]
[…] be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed
[orpha.net]