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| Cobblestone Malformations v0.9 | DAG1 | Zornitza Stark Marked gene: DAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cobblestone Malformations v0.9 | DAG1 | Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cobblestone Malformations v0.9 | DAG1 | Zornitza Stark Classified gene: DAG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cobblestone Malformations v0.9 | DAG1 | Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cobblestone Malformations v0.8 | DAG1 |
Ain Roesley gene: DAG1 was added gene: DAG1 was added to Cobblestone Malformations. Sources: Literature Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAG1 were set to 29337005 Phenotypes for gene: DAG1 were set to Walker-Warburg syndrome associated with tectocerebellar dysraphia; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538) Penetrance for gene: DAG1 were set to unknown Review for gene: DAG1 was set to RED Added comment: PMID: 29337005; - 1x consanguineous Israeli-Arab kindred with Walker-Warburg syndrome - The imaging studies demonstrated: cobblestone cortex, hydrocephalus, z-shaped brainstem, and in addition occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia). - homozygous frameshift Sources: Literature |
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