Results 21 -
30
of
41
for
Complex V deficiency
- ... or during early embryonic development. AIS Androgen receptor deficiency Androgen resistance syndrome AR deficiency DHTR deficiency Dihydrotestosterone ...
- ... that cause GSD IV lead to a shortage (deficiency) of the glycogen branching enzyme. As a result, ... Andersen disease Andersen glycogenosis Andersen's disease Brancher deficiency Branching enzyme deficiency Glycogen branching enzyme deficiency Glycogen ...
- ... or ITGB3 gene mutations result in a shortage (deficiency) of functional integrin αIIbβ3. As a result, platelets ... not show signs and symptoms of the condition. Deficiency of glycoprotein complex IIb-IIIa Deficiency of platelet ...
- ... type VI GSD VI GSD6 Hepatic glycogen phosphorylase deficiency Hers disease Liver phosphorylase deficiency syndrome Genetic Testing Registry: Glycogen storage disease, type ...
- ... Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? J ... and Cause an Atypical Form of Vitamin D Deficiency. J Clin Endocrinol Metab. 2015 Jul;100(7): ...
- ... of the condition. Beta-D-mannosidosis Beta-mannosidase deficiency Lysosomal beta A mannosidosis Lysosomal beta-mannosidase deficiency Genetic Testing Registry: Beta-D-mannosidosis Beta-mannosidosis ...
- ... and symptoms of the condition. HLA class I deficiency Genetic Testing Registry: MHC class I deficiency National Organization for Rare Disorders (NORD) MHC CLASS ...
- ... and symptoms of the condition. Glucose-6-phosphate deficiency Glucose-6-phosphate transport defect GSD I GSD ... Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Genetic Testing Registry: Glycogen storage disease, ...
- ... the eyes (keratitis), kidney problems (nephritis), vitamin B12 deficiency, hair loss (alopecia), loss of skin color in ... APECED, such as CMC, hypoparathyroidism, or vitamin B12 deficiency, but do not have the full pattern of ...
- ... produced from the SMARCB1 or SMARCA4 gene. This deficiency likely impairs the tumor suppressor function of the ... tumor syndrome Familial rhabdoid tumor Hereditary SWI/SNF deficiency syndrome Rhabdoid predisposition syndrome RTPS Genetic Testing Registry: ...
