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Qu'est-ce (qui) est xerodermatic oligophrenia - définition
JOUBERT SYNDROME (JS) IS CHARACTERIZED BY CONGENITAL MALFORMATION OF THE BRAINSTEM AND AGENESIS OR HYPOPLASIA OF THE CEREBELLAR VERMIS LEADING TO AN ABNORMAL RESPIRATORY PATTERN, NYSTAGMUS, HYPOTONIA, ATAXIA, AND DELAY IN ACHIEVING MOTOR MILESTONES
Oligophreny; Oligophernia; Oligophrenia
COACH syndrome
A RARE AUTOSOMAL RECESSIVE DISORDER CHARACTERISED BY CEREBELLAR VERMIS HYPOPLASIA, OLIGOPHRENIA (DEVELOPMENTAL DELAY/MENTAL RETARDATION), ATAXIA, COLOBOMA, AND HEPATIC FIBROSIS.
User:Drpsdeb/sandbox; Draft:COACH Syndrome; COACH Syndrome; Joubert syndrome with hepatic defect
COACH syndrome, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis.
phenylketonuria
![Pathophysiology of phenylketonuria, which is due to the absence of functional phenylalanine hydroxylase (classical subtype) or functional enzymes for the recycling of [[tetrahydrobiopterin]] (new variant subtype) utilized in the first step of the metabolic pathway.](https://commons.wikimedia.org/wiki/Special:FilePath/Inborn errors of metabolism of phenylalanine and tyrosine.svg?width=200 "Pathophysiology of phenylketonuria, which is due to the absence of functional phenylalanine hydroxylase (classical subtype) or functional enzymes for the recycling of [[tetrahydrobiopterin]] (new variant subtype) utilized in the first step of the metabolic pathway.")
AMINO ACID METABOLIC DISORDER THAT IS CHARACTERIZED BY A MUTATION IN THE GENE FOR THE HEPATIC ENZYME PHENYLALANINE HYDROXYLASE (PAH), RENDERING IT NONFUNCTIONAL
PKU; Phenylketonurics; Phenylketonurias; Følling's disease; Phenylketonuric; Pheylketonuria; Phenylketonuria, maternal; Deficiency disease, Phenylalanine Hydroxylase; Classical Phenylketonuria; Folling's Disease; Folling disease; Phenylketuronics; PKU disease; Folling's disease; Phenylketurnia; Phenylpyruvic oligophrenia; Phenylketonuria - PKU; Folling's syndrome; Phenylketoturia; Phenylalanine hydroxylase deficiency; Phenylalaninemia; Phenylketonuria type II; Phenylketonuric embryopathy; Maternal phenylketonuria; Corn-free diet; Tetrahydrobiopterin-deficient hyperphenylalaninemia; Corn-Free Diet
[?fi:n??l?ki:t?(?)'nj??r??, ?f?n?l-]
¦ noun Medicine an inherited inability to metabolize phenylalanine which can result in brain and nerve damage.
Sjögren–Larsson syndrome
![T2-weighted MRI]] images of a 25-year-old male with Sjögren–Larsson syndrome revealing dysmyelination in the deep periventricular [[white matter]] and reduced brain volume in the [[frontal lobe]].](https://commons.wikimedia.org/wiki/Special:FilePath/Sjögren-Larsson T2-MRI.jpg?width=200 "T2-weighted MRI]] images of a 25-year-old male with Sjögren–Larsson syndrome revealing dysmyelination in the deep periventricular [[white matter]] and reduced brain volume in the [[frontal lobe]].")
AUTOSOMAL RECESSIVE FORM OF ICHTHYOSIS APPARENT AT BIRTH
Sjogren-Larsson syndrome; Sjogren-larsson syndrome; Sjoegren-Larsson syndrome; Sjögren-Larsson syndrome; Sjogren–Larsson syndrome; Sjogren Larsson syndrome
Sjögren–Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms.Freedberg, et al.
Wikipédia
Joubert syndrome
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in 1969 by pediatric neurologist Marie Joubert in Montreal, Quebec, Canada, while working at the Montreal Neurological Institute and McGill University.
