Charcot-Marie-Tooth Disease Type 4H(FGD4 Charcot-Marie-Tooth disease type 4)
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | FGD4/121512 | FYVE, RhoGEF and PH domain containing 4 | 12p11.21 | Chr12, NC_000012.12 (32399558..32646050) |
246493 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities