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| Common deletion and duplication syndromes v0.126 | ISCA-37434-Loss | Zornitza Stark Marked Region: ISCA-37434-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.126 | ISCA-37434-Loss | Zornitza Stark Region: isca-37434-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.126 | ISCA-37434-Loss | Zornitza Stark Phenotypes for Region: ISCA-37434-Loss were changed from Chromosome 1p36 deletion syndrome MIM#607872 to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.125 | ISCA-37434-Loss | Zornitza Stark Classified Region: ISCA-37434-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.125 | ISCA-37434-Loss | Zornitza Stark Region: isca-37434-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.119 | ISCA-37434-Loss |
Elena Savva Region: ISCA-37434-Loss was added Region: ISCA-37434-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432 Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872 Review for Region: ISCA-37434-Loss was set to GREEN Added comment: Established CNV The majority of deletions occur on the maternal chromosome. Features include: Microbrachycephaly (65%), epicanthus (50%), large, late-closing anterior fontanel (77%), and posteriorly rotated, low-set, abnormal ears (40%), skeletal anomalies (41%), abnormal genitalia (25%), renal abnormalities (22%), hypotonia (95%), seizures (44%), sensorineural deafness (28%) Sources: Expert list |
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