Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder, autosomal recessive 77 | |
| | CEP104, LOC126805586 (L634fs) | Duplication (frameshift variant) | Intellectual developmental disorder, autosomal recessive 77 | |
| | | Insertion (frameshift variant) | Intellectual developmental disorder, autosomal recessive 77 | |
| | | Deletion (frameshift variant) | Joubert syndrome and related disorders +1 more | GPathogenic/Likely pathogenic |
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