From: Towards identification of molecular mechanisms of short stature
Criteria | |
---|---|
● | Severe short stature, height < -3 SDS for CNV, <-4 SDS for whole exome sequencing; |
● | Disproportionate short stature within family, height < -2 SDS from midparental target height; |
● | Height < -2 SDS AND major congenital abnormalities or neurocognitive disorder; |
● | Short stature segregating within the family in a dominant pattern; |
● | History of consanguinity |