GRIN2B-related neurodevelopmental disorder
آخر تحديث 2 أغسطس 2023
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GRIN2B-related neurodevelopmental disorder is a condition that affects the nervous system. Neurodevelopmental disorders result from impaired growth and development of the central nervous system, which includes the brain and spinal cord, and the nerves connecting them. These disorders often affect learning ability, memory, and behaviour and can be associated with other neurological problems.
الوصف
GRIN2B-related neurodevelopmental disorder is a condition that affects the nervous system. Neurodevelopmental disorders result from impaired growth and development of the central nervous system, which includes the brain and spinal cord, and the nerves connecting them. These disorders often affect learning ability, memory, and behaviour and can be associated with other neurological problems.
Individuals with GRIN2B-related neurodevelopmental disorder have mild to profound intellectual disability and delayed development of speech and motor skills, such as sitting and walking. Some affected individuals never develop speech or the ability to walk on their own. Many people with this condition have weak muscle tone (hypotonia), which can contribute to the problems developing motor skills and lead to difficulty eating. Some affected individuals have abnormal muscle stiffness (spasticity), which can also cause problems with movement.
Recurrent seizures (epilepsy) occur in about half of people with GRIN2B-related neurodevelopmental disorder. About one-quarter of affected individuals have features of autism spectrum disorder, which is characterised by impaired communication and social interaction. Affected individuals may also be hyperactive, impulsive, or easily distractible, and some are described as being overly friendly. Sleeping difficulties can also occur in this condition.
Less common features of GRIN2B-related neurodevelopmental disorder include structural brain abnormalities, an unusually small head size (microcephaly), impaired vision, and involuntary muscle movements.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
EIEE27
Epileptic encephalopathy, early infantile, 27
GRIN2B encephalopathy
GRIN2B related syndrome
Related patient information and medicines
Patient information leaflet
اضطراب عصبي وظيفي
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عسر الحركة
اضطراب التنسيق النمائي (DCD), also known as dyspraxia, is a common condition which mainly affects motor co-ordination - the way the body organises and carries out movement-related tasks. It can also affect other activities, including speech. Dyspraxia occurs in children and adults. Dyspraxia means poor co-ordination, but the term.
Patient information leaflet
الاضطرابات الجسدية والوظيفية
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Patient information leaflet
الاضطرابات النفسية الجسدية
Psychosomatic means mind (psyche) and body (soma). ت psychosomatic disorder هو a disease which involves both mind and body. What are psychosomatic disorders. Psychosomatic disorders are conditions which cause troublesome, distressing physical symptoms, caused by the autonomic nervous system not functioning correctly. The autonomic nervous system.
Patient information leaflet
اضطرابات طيف التوحد
Autism spectrum disorder (ASD), commonly known as autism, affects the way that a person communicates with, and relates to, other people. The National Autistic Society defines autism as 'a lifelong developmental disability which affects how people communicate and interact with the world'. People with autism spectrum disorders usually need.
Patient information leaflet
متلازمة ديوجين
Diogenes syndrome is uncommon but يمكن أن be easily missed, especially in an elderly person living on their own. Diogenes syndrome, also known as senile squalor syndrome or hoarding disorder, is a disorder with extreme self-neglect, hoarding of garbage or animals, domestic squalor, social withdrawal, apathy, and a lack of insight into the problem and.
قراءة إضافية ومراجع
- GRIN2B-related neurodevelopmental disorder; MedlinePlus, National Library of Medicine.
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تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
2 أغسطس 2023 | أحدث إصدار
1 Sept 2018 | نُشر في الأصل
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