X-linked neurodegenerative syndrome, Hamel type https://www.malacards.org/card/x_linked_neurodegenerative_syndrome_hamel_type MEDGEN:930804 UMLS:C4305135 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. GARD:0019062 MONDO:0019429 Orphanet:85336 SCTID:718847005 X-linked syndromic intellectual disability inherited neurodegenerative disorder