Walker-Warburg Congenital Muscular Dystrophy(HARD (hydrocephalus, agyria, retinal dysplasia) syndrome)
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neuromuscular 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 | FKRP/79147 | fukutin related protein | 19q13.32 | Chr19, NC_000019.10 (46744760..46758575) |
13816 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | FKTN/2218 | fukutin | 9q31.2 | Chr9, NC_000009.12 (105558130..105641118) |
82989 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | POMT1/10585 | protein O-mannosyltransferase 1 | 9q34.13 | Chr9, NC_000009.12 (131502918..131523799) |
20882 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CELSR1/9620 | cadherin EGF LAG seven-pass G-type receptor 1 | 22q13.31 | Chr22, NC_000022.11 (46361174..46537620, complement) |
176447 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities