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Congenital abnormalities
- ... 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 often nail abnormalities. The mutation identified in this disorder leads to ... in the features characteristic of palmoplantar keratoderma and congenital ... that abnormalities of heart function associated with GJA1 gene mutations ...
- ... usually survive into childhood or adolescence. POMT1-related congenital muscular dystrophy causes muscle weakness, brain abnormalities, and intellectual disability, but usually does not affect ...
- ... causes skeletal muscle weakness and brain and eye abnormalities. This form of congenital muscular dystrophy is seen almost exclusively in Japan. ... condition is found in populations worldwide. Like Fukuyama congenital muscular ... cobblestone lissencephaly. However, individuals with Walker-Warburg ...
- ... 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). ...
