Diseases of the nervous system
Polyneuropathies and other disorders of the peripheral nervous system
11q13.3
Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 604320.5 | Lebanon | Unknown | Yes |  | NM_002180.3:c.1540G>A | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 | ||
| 616155.G | Lebanon | Unknown | Yes | | NM_002180.2:c.62G>T | Homozygous | Autosomal, Recessive | Megarbane et al. 2022 | 4 patients from 2 fa... |