Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | |
| | | Single nucleotide variant (missense variant) | Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | |
| | | Single nucleotide variant (missense variant) | Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | |
| | | Duplication (inframe_insertion) | Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies +1 more | |
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