Lower limb malformation-hypospadias syndrome
ORPHA:2487Androgen insensitivity syndrome
ORPHA:754Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
ORPHA:1969Focal dermal hypoplasia
ORPHA:2092Fried syndrome
ORPHA:85335Galactosialidosis
ORPHA:351Goldberg-Shprintzen megacolon syndrome
ORPHA:66629Goldenhar syndrome
ORPHA:374Growth deficiency-brachydactyly-dysmorphism syndrome
ORPHA:2055NPHP3-related Meckel-like syndrome
ORPHA:3032Odontochondrodysplasia
ORPHA:166272Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
ORPHA:2928Shprintzen-Goldberg syndrome
ORPHA:2462