Version: 8.0.0
Date: Tue Jan 28 2025
3 results
Disease Genes: rpc-2 (Cel)

Charcot-Marie-Tooth disease

Disease
Source: DOID:10595
Definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
Genes: rpc-2 (Cel)

hypomyelinating leukodystrophy

Disease
Source: DOID:0060786
Definition: A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging.
Genes: rpc-2 (Cel)

hypomyelinating leukodystrophy 8

Disease
Source: DOID:0060797
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.
Genes: rpc-2 (Cel)