SR-related CTD associated factor 4
OMIM: 616023, Gene2Phenotype
Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAF4 in White matter disorders and cerebral calcification - narrow panel
|
review | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SCAF4 in DDG2P
|
review | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SCAF4 in Early onset or syndromic epilepsy
Level 3: Inherited Epilepsy Syndromes
|
review | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SCAF4 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
|
review | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
|