| Metadata | |
|---|---|
| ID | DOID:0061251 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061251 Copy |
| Name | Charcot-Marie-Tooth disease type 2KK |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that has_material_basis_in homozygous mutation in the ARHGAP19 gene on chromosome 10q24. https://pubmed.ncbi.nlm.nih.gov/41086021/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |