Categories: Skeleton phene (incl. short stature & teeth) , Limbs / fins / digit / tail phene

Possible human homologues (MIM numbers): 618021 (trait) , 610575 (gene) , 618022 (trait)

Links to relevant human diseases in MONDO:

• MONDO:0060732: tetraamelia syndrome 2

Cross-species summary: Renamed from 'Tetradysmelia' to 'Amelia, RSPO2-related' [15/04/2025]
This phene includes entries relating to tetradysmelia (severe reduction of all limb parts distal of the scapula and the pelvic girdle) and bilateral anterior amelia (BAA) (congenital absence of thoracic limbs) due to variants in the RSPO2 gene. This phene may be similar to 'limbless' in chicken (OMIA 000602-9031).

Species in which this phene is found:
dog (Canis lupus familiaris)
taurine cattle (Bos taurus)