recessive disorder
71 results
1 - 71
recessive disorder- porphyria
Newborn Screening- sulfite oxidase deficiency
- parahemophilia
- Meier-Gorlin syndrome
- pyridoxine dependency
- Seckel syndrome
- faciocardiomelic syndrome
- Gitelman syndrome
- glycogen storage disease
- lethal multiple pterygium syndrome
- aciduria
- nanism
Pernicious Anemia- Sanjad-Sakati syndrome
- hereditary aceruloplasminemia
- Joubert syndrome
- sitosterolemia
- deficiency
- Mononucleosis, Infectious
- Usher syndrome
- Hyponatremia
- Hypoglycemia
- Antley-Bixler syndrome
- hyperekplexia, hyperexplexia
- neuroacanthosis
- Hemophilia
- Papillon-Lefèvre syndrome
- cystinosis
- Hyperlipoproteinemia
- Bernard-Soulier syndrome
- juvenile hemochromatosis
- Chédiak-Higashi syndrome
- Smith-Lemli-Opitz syndrome
- Osteomyelitis
- hypophosphatasia
- atrophy
- fever
- Platelet Count and Tests of Platelet Function
- Batten disease
- Liver Failure
- Myasthenia Gravis
- Porphyrins, Blood and Urine
- Hypochloremia
- Ceruloplasmin
- Biopsy, Chorionic Villus
- Copper
- galactosemia
- Bilirubin and Bilirubin Fractions
- Sickle Cell Disease
- Cerebral Aneurysm
- severe combined immunodeficiency disease
- Glucose-6-Phosphate Dehydrogenase
- Polycystic Kidney Disease
- adult polyglucosan body disease
- Color Perception Test
- Genetic Testing
- polycystic kidney disease
- Phosphorus, Blood and Urine
- anemia
- Hemoglobin Electrophoresis and Abnormal Hemoglobins
- Coagulation Factors