Wiedemann-Steiner Syndrome(Growth deficiency and mental retardation with facial dysmorphism) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Multisystemic 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 | KMT2A/4297 | lysine methyltransferase 2A | 11q23.3 | Chr11, NC_000011.10 (118436492..118526832) |
90341 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SMC1A/8243 | structural maintenance of chromosomes 1A | Xp11.22 | ChrX, NC_000023.11 (53374149..53422728, complement) |
48580 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | ARID1B/57492 | AT-rich interaction domain 1B | 6q25.3 | Chr6, NC_000006.12 (156776026..157210779) |
434754 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CHD7/55636 | chromodomain helicase DNA binding protein 7 | 8q12.2 | Chr8, NC_000008.11 (60678740..60868028) |
189289 nt | 42 | 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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