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Search Results
Searched for "Arthrogryposis".
19
results
found
on Genetics Home Reference.
- distal arthrogryposis type 1 condition summary
Found in name or synonym: arthrogryposis, distal, type 1
- Freeman-Sheldon syndrome condition summary
Found in name or synonym: distal arthrogryposis, type 2A
- arthrogryposis definition
- multiple pterygium syndrome condition summary
Found: ...the movement of joints (arthrogryposis). As a result, multiple pterygium...
- TPM2 gene summary
Official name: tropomyosin 2 (beta)
Found: ...has been found to cause distal arthrogryposis type 1, a disorder characterized...
- congenital contractural arachnodactyly condition summary
Related classification: Arthrogryposis
- MYBPC1 gene summary
Official name: myosin binding protein C, slow type
Found: ...has been found to cause distal arthrogryposis type 1, a disorder characterized...
- multiminicore disease condition summary
Found: ...as the antenatal form with arthrogryposis, is characterized by stiff, rigid...
- VIPAS39 gene information
Official name: VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
Found: Arthrogryposis, renal dysfunction and cholestasis...
- TNNI2 gene information
Official name: troponin I type 2 (skeletal, fast)
Found: Arthrogryposis, distal, 2B (DA2B) [MIM:601680]:...
- TNNT3 gene information
Official name: troponin T type 3 (skeletal, fast)
Found: Arthrogryposis, distal, 2B (DA2B) [MIM:601680]:...
- VPS33B gene information
Official name: vacuolar protein sorting 33 homolog B (yeast)
Found: Arthrogryposis, renal dysfunction and cholestasis...
- CHRNA1 gene information
Official name: cholinergic receptor, nicotinic, alpha 1 (muscle)
Found: ...infrequently in children with arthrogryposis and in fetuses with fetal akinesia...
- CHRND gene information
Official name: cholinergic receptor, nicotinic, delta (muscle)
Found: ...infrequently in children with arthrogryposis and in fetuses with fetal akinesia...
- glycogen storage disease type IV condition summary
Found: ...can lead to joint stiffness (arthrogryposis) after birth. Infants with the...
- ERCC1 gene information
Official name: excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
Found: ...facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor...
- GLE1 gene information
Official name: GLE1 RNA export mediator homolog (yeast)
Found: ...joint contractures (arthrogryposis). The contractures can involve...
- ERBB3 gene information
Official name: v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
Found: ...joint contractures (arthrogryposis). The contractures can involve...
- PIP5K1C gene information
Official name: phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
Found: ...joint contractures (arthrogryposis). The contractures can involve...
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