Yunis-Varon Syndrome(Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone 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 | FIG4/9896 | FIG4 phosphoinositide 5-phosphatase | 6q21 | Chr6, NC_000006.12 (109691296..109825426) |
134131 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | VAC14/55697 | VAC14 component of PIKFYVE complex | 16q22.1 | Chr16, NC_000016.10 (70687439..70801158, complement) |
113720 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MalaCards NORD |
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Clinical Symptoms & Disabilities