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| Arthrogryposis v0.37 | SMPD4 | Alison Yeung Marked gene: SMPD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.37 | SMPD4 | Alison Yeung Gene: smpd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.37 | SMPD4 | Alison Yeung Classified gene: SMPD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.37 | SMPD4 | Alison Yeung Gene: smpd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.36 | SMPD4 |
Alison Yeung gene: SMPD4 was added gene: SMPD4 was added to Arthrogryposis. Sources: Literature 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 Microcephaly; congenital arthrogryposis, intellectual disability Review for gene: SMPD4 was set to GREEN gene: SMPD4 was marked as current diagnostic Added comment: Expansion of phenotype in known neurodevelopment disease gene 12 unrelated families reported. Arthrogryposis is a feature in 85% Sources: Literature |
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