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| Cerebellar and Pontocerebellar Hypoplasia v0.64 | SMPD4 | Zornitza Stark Marked gene: SMPD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.64 | SMPD4 | Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.64 | SMPD4 | Zornitza Stark Classified gene: SMPD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.64 | SMPD4 | Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.53 | SMPD4 |
Crystle Lee gene: SMPD4 was added gene: SMPD4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to 31495489 Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622) Review for gene: SMPD4 was set to GREEN Added comment: Cerebellar hypoplasia is a feature of the associated OMIM phenotype. Magini 2019: Reported 23 patients from 12 unrelated families. Cerebellar hypoplasia was one of the main features. Sources: Expert Review |
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