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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37425-Gain | Arina Puzriakova commented on Region: ISCA-37425-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37425-Gain |
Arina Puzriakova GRCh38 position for ISCA-37425-Gain was changed from 176301975-177586960 to 176301976-177620792. Required Overlap Percentage for ISCA-37425-Gain was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.398 | ISCA-37425-Gain |
Louise Daugherty Region: ISCA-37425-Gain was added Region: ISCA-37425-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694 Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated. |
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