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Truncal ataxia
Did you mean truncus ataxia?
- Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include ...
- Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year ...
- ... congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.Gillespie syndrome ... the other copy of the gene. Aniridia, cerebellar ataxia, and mental retardation Aniridia-cerebellar ataxia-intellectual disability ...
- ... Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.Ataxia describes difficulty ...
- ... individuals have problems with balance and coordination (cerebellar ataxia), often leading to difficulties with activities of daily ... RNF216 protein function causes hypogonadotropic hypogonadism or cerebellar ataxia.The PNPLA6 gene provides instructions for making a ...
- ... affected individuals have difficulty with coordination and balance (ataxia) but can walk without support, and many have ... impulses effectively, resulting in neurological problems such as ataxia and the other signs and symptoms of CLCN2- ...
- ... include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, ... carries an altered copy of the PRPS1 gene. Ataxia, fatal X-linked, with deafness and loss of ...
- ... not show signs and symptoms of the condition. Ataxia with lactic acidosis Intermittent ataxia with pyruvate dehydrogenase deficiency PDH deficiency PDHC deficiency ...
- ... not show signs and symptoms of the condition. Ataxia with lactic acidosis, type II Leigh necrotizing encephalopathy ... PC deficiency Pyruvate carboxylase deficiency disease Type II ataxia with lactic acidosis Genetic Testing Registry: Pyruvate carboxylase ...
- ... malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable ... The resulting problems with brain development lead to ataxia and the other major features of this condition. ...
