Spastic ataxia-corneal dystrophy syndrome
ORPHA:2572Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
ORPHA:314002Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
ORPHA:2229NAME syndrome
ORPHA:623Nodulosis-arthropathy-osteolysis syndrome
ORPHA:85196Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
ORPHA:2773