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1,007
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Brain disorder
- ... number of people with Leigh syndrome, a progressive brain disorder that typically appears in infancy or early childhood. ...
- Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is a neurological disorder that can also affect many other body systems. ... Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart ... NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF ...
- ... the FKRP gene are associated with muscle eye brain disease, which causes muscle weakness, eye problems, and intellectual disability. The signs and symptoms of muscle eye brain disease are less severe than those of Walker-Warburg ...
- CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or ...
- Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before ...
- ... severe forms of muscular dystrophy, including muscle-eye-brain disease and POMT2-related congenital muscular dystrophy (also known as MDDGB2). Muscle-eye-brain disease is similar to Walker-Warburg syndrome (described above), ...
- ... severe forms of muscular dystrophy, including muscle-eye-brain disease and POMT1-related congenital muscular dystrophy (also known as MDDGB1). Muscle-eye-brain disease is similar to Walker-Warburg syndrome (described above), ...
- ... expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010 Mar;133(Pt 3):655-70. doi: ...
- ... Rett syndrome, which is a similar disorder of brain development. Both disorders are characterized by impaired development, intellectual disability, and ...
- Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition is traditionally defined by three characteristic features: underdevelopment (hypoplasia) of the optic ...
