Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Definition
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.
Also known as Dykes-Markes-Harper syndrome, Dykes-Marks-Harper syndrome — per MONDO