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Congenital abnormality
- ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
- ... N, Guicheney P. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. Eur J Med ...
- ... syndrome, a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing ...
- ... S, Ray PN, Vajsar J. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene ( ...
- ... skin problems, an absence of hair from birth (congenital alopecia), and nail abnormalities. The variant identified in people with this disorder leads to the production of an altered connexin 43 protein. The channels that are made ... connexin 43 CX43 Cx43α1 gap junction ...
- ... usually survive into childhood or adolescence. POMT1-related congenital muscular dystrophy causes muscle weakness, brain abnormalities, and intellectual disability, but usually does not affect ...
- ... described above). Such abnormalities are grouped together as congenital anomalies of the kidney and urinary tract (CAKUT). A common abnormality in people with FRAS1 gene mutations is the ...
- ... form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the brain and eyes. Because of the ...
- ... and symptoms of Fraser syndrome (described above). Such abnormalities are grouped together as congenital anomalies of the kidney and urinary tract (CAKUT). ...
- ... vary in severity and are grouped together as congenital anomalies of kidney and urinary tract (CAKUT). The most severe CAKUT abnormalities can cause kidney damage and life-threatening kidney ...
