autosomal recessive
199 results
102 - 199- ochronosis
- hyperplasia
- fetal akinesia deformation sequence
- immotile cilia syndrome
- Papillon-Lefèvre syndrome
- cystinosis
- Cystic Fibrosis
- Pyruvate Kinase
- Laurence-Moon-Biedl syndrome
- Bernard-Soulier syndrome
- juvenile hemochromatosis
- deficiency
- Hyperthyroidism
- Liver Failure
- ataxia-telangiectasia
- Chédiak-Higashi syndrome
- Glanzmann thrombasthenia
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Pulmonary Hypertension
- Smith-Lemli-Opitz syndrome
- Bietti crystalline dystrophy
- xeroderma
- Amyloidosis
- Adrenal Insufficiency (Addison Disease)
- neuronal ceroid lipofuscinosis
- Zellweger syndrome
- Platelet Count and Tests of Platelet Function
- Parkinson Disease
- Refsum disease
- Adrenal Crisis, Acute
- Charcot-Marie-Tooth disease
- Crigler-Najjar syndrome
- epidermodysplasia verruciformis
- Esophageal Cancer
- Glaucoma
- Iron Deficiency Anemia
- Hypothyroidism
- pyknodysostosis
- hypophosphatasia
- atrophy
- fever
- Polycystic Kidney Disease
- Bilirubin and Bilirubin Fractions
- Porphyrins, Blood and Urine
- Cerebral Aneurysm
- Batten disease
- Laron, Zvi
- Abdominal Aortic Aneurysm
- Myasthenia Gravis
- Ventricular Dysrhythmias
- Niemann-Pick disease
- osteopetrosis
- blue diaper syndrome
- Atrial Dysrhythmias
- Bone Cancer
- Hypochloremia
- Multiple Sclerosis
- Plasminogen and Tissue Plasminogen Activator Antigen
- ichthyosis
- Muscular Dystrophy
- Sickle Cell Disease
- Oguchi disease
- galactosemia
- Ceruloplasmin
- chronic granulomatous disease
- Copper
- hemoglobin C disease
- severe combined immunodeficiency disease
- hyperlipoproteinemia
- Biopsy, Chorionic Villus
- tachycardia
- polycystic kidney disease
- osteogenesis, osteogeny
- maple syrup urine disease
- adult polyglucosan body disease
- Genetic Testing
- McArdle disease
- Alpha₁-Antitrypsin and Alpha₁-Antitrypsin Phenotyping
- Apolipoproteins: A, B, and E
- Wilson disease
- Cholinesterases: Acetylcholinesterase, Pseudocholinesterase and Dibucaine Number
- Phosphorus, Blood and Urine
- phenylketonuria
- Hemoglobin Electrophoresis and Abnormal Hemoglobins
- fibrosis
- Chloride, Sweat
- Hexosaminidase Testing
- anemia
- Coagulation Factors
- Newborn Screening