recessive disorder
39 results
1 - 39recessive disorder
porphyria
sulfite oxidase deficiency
parahemophilia
Meier-Gorlin syndrome
pyridoxine dependency
Seckel syndrome
faciocardiomelic syndrome
Gitelman syndrome
glycogen storage disease
lethal multiple pterygium syndrome
aciduria
nanism
Sanjad-Sakati syndrome
hereditary aceruloplasminemia
Joubert syndrome
sitosterolemia
deficiency
Usher syndrome
Antley-Bixler syndrome
hyperekplexia, hyperexplexia
neuroacanthosis
Papillon-Lefèvre syndrome
cystinosis
Bernard-Soulier syndrome
juvenile hemochromatosis
Chédiak-Higashi syndrome
Smith-Lemli-Opitz syndrome
hypophosphatasia
atrophy
fever
Batten disease
galactosemia
severe combined immunodeficiency disease
adult polyglucosan body disease
polycystic kidney disease
anemia