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| Monogenic short stature v0.167 | ISCA-37420-Loss | Arina Puzriakova Entity copied from Growth failure in early childhood v3.87 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.167 | ISCA-37420-Loss |
Arina Puzriakova Region: ISCA-37420-Loss was added Region: ISCA-37420-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315 Phenotypes for Region: ISCA-37420-Loss were set to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature |
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