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Mild short stature
- ... common features of distal 18q deletion syndrome include short stature (often due to growth hormone deficiency), weak muscle ... occur in this disorder. Some affected individuals have mild facial differences such as deep-set eyes, a ...
- ... mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, ... alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye ( ...
- ... Lowry syndrome. Additional features of this condition include short stature, an unusually small head (microcephaly), progressive abnormal curvature ...
- ... with mucolipidosis III gamma grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, ... III gamma often have heart valve abnormalities and mild clouding of the clear covering of the eye ( ...
- ... types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), ...
- ... to speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), and distinctive ... Wong V, Jaeken J. COG5-CDG with a Mild Neurohepatic Presentation. JIMD Rep. 2012;3:67-70. ...
- ... disease.Other features of Mowat-Wilson syndrome include short stature, seizures, heart defects, and abnormalities of the urinary ... M, Zackai EH. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the ...
- ... of fats and fat-soluble vitamins. Liver problems, short stature, and delayed puberty can also occur in affected ...
- ... of affected individuals have slow growth leading to short stature.Other features of Diamond-Blackfan anemia may include ... severe symptoms. For example, some affected individuals have mild anemia beginning later in childhood or in adulthood, ...
- ... problems.Heart problems, abnormalities of the thumbs, and short stature are other features that can occur in MFDM. ...