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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-46290-Gain | Ivone Leong commented on Region: ISCA-46290-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-46290-Gain |
Arina Puzriakova GRCh38 position for ISCA-46290-Gain was changed from 48447780-52444265 to 48447780-52444264. Required Overlap Percentage for ISCA-46290-Gain was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.443 | ISCA-46290-Gain |
Louise Daugherty Region: ISCA-46290-Gain was added Region: ISCA-46290-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46290-Gain were set to 25425167; 19716111; 21418194 Phenotypes for Region: ISCA-46290-Gain were set to Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep; 300801 |
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