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Mild short stature
- ... affects development before and after birth, leading to short stature, ovarian malfunction, and other features.About half of ... only one copy of this gene likely causes short stature and skeletal abnormalities seen in individuals with Turner ...
- ... signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), obesity, and ... likely than people with a deletion to have short stature, hearing loss, and heart or kidney abnormalities. It ...
- ... and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. Intellectual disability and ... BIDS syndrome Brittle hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS TTD Genetic Testing Registry: Trichothiodystrophy ...
- ... toes. Additional features of this condition may include short stature, obesity, or sparse hair. Many people with 2q37 ... isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet A. 2015 Jan;167A( ...
- ... slow growth before and after birth resulting in short stature. In TRPS II, the ends (epiphyses) of one ... A, Grill F, Frisch H, Ludecke HJ. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome ...
- ... gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities. Hereditary spherocytosis ...
- ... 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 ( ...
- ... disabilities, developmental delays, characteristic facial features, hypotonia, and short stature. These changes include an extra piece of chromosome ...
- ... a deletion to have certain other features, including short stature, hearing loss, and heart or kidney abnormalities. It ...