multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.
MONDO:0002242
coagulation protein disease
is_a
MONDO:0002243
hemorrhagic disease
is_a
MONDO:0002254
syndromic disease
is_a