Trigonocephaly-short Stature-developmental Delay Syndrome(Say-Meyer syndrome)
An X-linked recessive mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Neurodevelopmental 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 | HUWE1/10075 | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Xp11.22 | ChrX, NC_000023.11 (53532096..53686719, complement) |
154624 nt | 87 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities