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Congenital defects
- ... neurological and behavioral problems as well as other abnormalities.People with 7q11.23 duplication syndrome typically have ... such as crawling and walking. Speech problems and abnormalities in the way affected individuals walk and stand ...
- ... syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of ... the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits).Otopalatodigital syndrome ...
- ... overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long ... mineralization, which may also contribute to the bone abnormalities.A mutation in the GJA1 gene causes some ...
- Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members ...
- ... or MIR146A contributes to the megakaryocyte and platelet abnormalities and may promote the overgrowth of immature cells. ... Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelodysplastic syndrome with 5q deletion Myelodysplastic syndrome with ...
- ... by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and ... slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and ...
- ... rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the ... People with Hartsfield syndrome often have other brain abnormalities associated with holoprosencephaly. Affected individuals may have a ...
- ... is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other ... to a few words or phrases. Common brain abnormalities in desmosterolosis include malformation of the tissue that ...
- ... developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features). Early symptoms of the condition include ... features of HIVEP2-related intellectual disability include mild abnormalities in the structure of the brain and an ...
- ... type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many ... and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and ...
