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Death in infancy
- ... disease leads to severe signs and symptoms and death in infancy.In the later-onset cases of CLN10 disease, CTSD gene mutations likely result in the production of a cathepsin D enzyme whose function ... CATD_HUMAN cathepsin ...
- ... lead to a severe loss of fluids and death in early infancy. Like the mutations that cause keratoderma with woolly ...
- ... lead to a severe loss of fluids and death in early infancy. The mutation found to cause LCEB, written as ...
- ... weakness that begins at birth or in early infancy. Weakness in the chest muscles that control breathing often causes death from respiratory failure in early childhood.UBA1 gene ...
- ... in regulating development before birth and controlling cell death. Researchers are working ... the body, beginning in infancy. Affected babies have recurrent episodes of fever, diarrhea, ...
- ... liver and muscle problems that usually begin in infancy and are caused by a ... and cell death. Polyglucosan bodies build up in cells throughout the ...
- ... a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience delayed ... that impaired oxidative phosphorylation can lead to cell death because of decreased energy available in the cell. ...
- ... which leads to neurological problems that begin in infancy, including muscle spasms and seizures. TRPM6 gene mutations ... worsen over time and may lead to early death. More About This Health Condition CHAK2 channel kinase ...
- ... a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience delayed ... that impaired oxidative phosphorylation can lead to cell death because of decreased energy available in the cell. ...
- ... with Fontaine syndrome typically do not survive past infancy.It is unclear how the same mutations can ...
