X-linked neurodegenerative syndrome, Hamel type
An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0024237
inherited neurodegenerative disorder
is_a