Encephalocraniocutaneous Lipomatosis(Haberland syndrome) Explore Disorder's Alias
An Somatic mosaicism mode(s) within the Neuronal disorders category
Candidate Gene Information
An Somatic mosaicism mode(s) within the Neuronal 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 | FGFR1/2260 | fibroblast growth factor receptor 1 | 8p11.23 | Chr8, NC_000008.11 (38411143..38468635, complement) |
57493 nt | 24 | 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 |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |