Congenital Hypotrichosis With Juvenile Macular Dystrophy(Hypotrichosis with cone-rod dystrophy) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Hair disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Hair 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 | CDH3/1001 | cadherin 3 | 16q22.1 | Chr16, NC_000016.10 (68645310..68733771) |
88462 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities