Andermann syndrome

An autosomal recessive condition characterised by motor and sensory neuropathy, agenesis of corpus callosum with neuropathy, areflexia, muscular hypotonia, muscle wasting, progressive weakness, tremors and regression of developmental milestones achieved by age 3–4, with scoliosis, gaze palsy and ptosis. Skeletal defects include ocular hypertelorism; widened, short skull (brachycephaly); high palatal arch; overriding great toe; syndactyly of second and third toes. Neuropsychiatric findings include mental retardation, seizures, depression and hallucinations.

Molecular pathology
Andermann syndrome is caused by mutation in SLC12A6, which co-transports potassium and chloride across cell membranes.

Andermann,

Frederick, Canadian physician. Andermann syndrome - recessive gene causing agenesis of the corpus callosum. Synonym(s): Charlevoix disease

单词	andermann syndrome
释义	Andermann syndrome Andermann syndrome An autosomal recessive condition characterised by motor and sensory neuropathy, agenesis of corpus callosum with neuropathy, areflexia, muscular hypotonia, muscle wasting, progressive weakness, tremors and regression of developmental milestones achieved by age 3–4, with scoliosis, gaze palsy and ptosis. Skeletal defects include ocular hypertelorism; widened, short skull (brachycephaly); high palatal arch; overriding great toe; syndactyly of second and third toes. Neuropsychiatric findings include mental retardation, seizures, depression and hallucinations. Molecular pathology Andermann syndrome is caused by mutation in SLC12A6, which co-transports potassium and chloride across cell membranes. Andermann, Frederick, Canadian physician. Andermann syndrome - recessive gene causing agenesis of the corpus callosum. Synonym(s): Charlevoix disease
随便看	deoxyribonucleoside deoxyribonucleoside triphosphate deoxyribonucleotide deoxyribonucleotides deoxyribonucleotide triphosphate deoxyribonukleová kyselina deoxyribose deoxyribose nucleic acid deoxyribosenucleic acid deoxyribose phosphate deoxyribosephosphate aldolase deoxyriboside deoxyribosyl deoxyribosyltransferases deoxyribotide deoxyribovirus deoxyribozyme deoxy sugar deoxysugar deoxy sugars deoxythymidine deoxythymidine diphosphate deoxythymidine monophospate deoxythymidine monophosphate deoxythymidine triphosphate