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Pages in category "Autosomal recessive disorders"
The following 135 pages are in this category, out of 135 total.
A
- Abderhalden-Kaufmann-Lignac syndrome
- Abderhalden-Kaufmann-Lignac syndrome historical perspective
- Abderhalden-Kaufmann-Lignac syndrome history and symptoms
- Abderhalden-Kaufmann-Lignac syndrome overview
- Ablepharon macrostomia syndrome
- Aceruloplasminemia
- Achalasia-addisonian syndrome
- Acheiropodia
- Acrocallosal syndrome
- Adenylosuccinate lyase deficiency
- Aicardi-Goutieres syndrome
- ALOX12B
- Alpha-mannosidosis
- Antley-Bixler syndrome
C
G
H
- Hemophagocytic lymphohistiocytosis case study one
- Hemophagocytic lymphohistiocytosis cost-effectiveness of therapy
- Hemophagocytic lymphohistiocytosis future or investigational therapies
- Homocystinuria (patient information)
- Hyperlysinemia
- Hypermethioninemia
- Hyperprolinemia
- Hypertryptophanemia
- Hypervalinemia
I
- ICF syndrome
- Idiopathic infantile arterial calcification
- Idiopathic infantile arterial calcification history and symptoms
- Idiopathic infantile arterial calcification medical therapy
- Idiopathic infantile arterial calcification natural history, complications and prognosis
- Idiopathic infantile arterial calcification other imaging findings
- Idiopathic infantile arterial calcification overview
- Idiopathic infantile arterial calcification pathophysiology
- Idiopathic infantile arterial calcification primary prevention
- Infantile free sialic acid storage disease
- Infantile neuroaxonal dystrophy
- Isobutyryl-coenzyme A dehydrogenase deficiency
M
O
R
S
- Sabinas brittle hair syndrome
- Salla disease
- Sarcosinemia
- Short-chain acyl-coenzyme A dehydrogenase deficiency
- Shwachman-Diamond syndrome
- Shwachman-Diamond syndrome (patient information)
- Shwachman-Diamond syndrome case study one
- Shwachman-Diamond syndrome causes
- Shwachman-Diamond syndrome classification
- Shwachman-Diamond syndrome cost-effectiveness of therapy
- Shwachman-Diamond syndrome CT
- Shwachman-Diamond syndrome differential diagnosis
- Shwachman-Diamond syndrome echocardiography or ultrasound
- Shwachman-Diamond syndrome epidemiology and demographics
- Shwachman-Diamond syndrome future or investigational therapies
- Shwachman-Diamond syndrome historical perspective
- Shwachman-Diamond syndrome history and symptoms
- Shwachman-Diamond syndrome laboratory findings
- Shwachman-Diamond syndrome medical therapy
- Shwachman-Diamond syndrome MRI
- Shwachman-Diamond syndrome natural history, complications and prognosis
- Shwachman-Diamond syndrome other diagnostic studies
- Shwachman-Diamond syndrome other imaging findings
- Shwachman-Diamond syndrome overview
- Shwachman-Diamond syndrome pathophysiology
- Shwachman-Diamond syndrome physical examination
- Shwachman-Diamond syndrome risk factors
- Shwachman-Diamond syndrome surgery
- Smith–Lemli–Opitz syndrome
- Succinic semialdehyde dehydrogenase deficiency