Diseases of the nervous system
Polyneuropathies and other disorders of the peripheral nervous system
Autosomal recessive
8q24.22
Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601455.1 | Saudi Arabia | Male | No | Yes | Weakness of facial musculature; Lower li... Weakness of facial musculature; Lower limb muscle weakness; Pes cavus; Impaired proprioception; Sensory ataxia; Hearing impairment  | NM_006096.4:c.761del | Homozygous | Autosomal, Recessive | Monies et al. 2017 |