From: Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients
Participant | III-1 | III-2 | II-4 |
---|---|---|---|
Hypospadias | Proximal penile shaft | Proximal penile shaft | Penoscrotal |
Birth weight | 3.3 | 3.4 | 1.75 |
Current age | 6.5 | 3.5 | 35 |
Current weight (kg) | 22 (45th percentile) | 14(16th percentile) | 70 |
Current height (kg) | 120 (48th percentile) | 100(49th percentile) | 165 |
Congenital Heart Disease | NEG | NEG | NEG |
Neurologic disorder | NEG | NEG | NEG |
Cutaneous abnormality | NEG | Hyperpigmented patch on the back(~ 20 cm) | Partial curly hair |
Craniofacial dysmorphism | NEG | Mild constricted ear | NEG |