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Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 DEF

Any of several hereditary progressive degenerative diseases of the eye marked by night blindness in the early stages, atrophy and pigment changes in the retina, constriction of the visual field, and eventual blindness.  3, record 1, English, - retinitis%20pigmentosa

Record number: 1, Textual support number: 1 OBS

[Retinitis pigmentosa] may be transmitted as a dominant, recessive, or X-linked trait and is sometimes associated with other genetic defects.  4, record 1, English, - retinitis%20pigmentosa

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 DEF

Maladie dégénérative de la rétine, ayant un caractère familial, touchant les deux yeux, caractérisée par une atrophie de la pupille, une héméralopie, une pigmentation anormale de la rétine et une diminution progressive du champ visuel, atteignant d'abord la périphérie puis laissant une vision centrale pour aboutir à la cécité.  4, record 1, French, - r%C3%A9tinite%20pigmentaire

Record 1,  Textual support,  Spanish

Record 2,  Textual support,  English

Record number: 2, Textual support number: 1 CONT

Inherited maculopathies are a common cause for blindness in childhood.... these can be inherited in an autosomal dominant, autosomal recessive or X-linked mode.  3, record 2, English, - hereditary%20maculopathy

Record number: 2, Textual support number: 1 OBS

hereditary: Transmitted or capable of being transmitted genetically from parent to offspring.  4, record 2, English, - hereditary%20maculopathy

Record 2,  Textual support,  French

Record number: 2, Textual support number: 1 OBS

Les maculopathies héréditaires peuvent être à transmission autosomique dominante, autosomique récessive ou liée à X.  2, record 2, French, - maculopathie%20h%C3%A9r%C3%A9ditaire

Record number: 2, Textual support number: 2 OBS

héréditaire : Transmis par les gènes, d'un organisme à ses descendants.  3, record 2, French, - maculopathie%20h%C3%A9r%C3%A9ditaire

Record 2,  Textual support,  Spanish

Record 3,  Textual support,  English

Record number: 3, Textual support number: 1 CONT

X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision(visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula.  3, record 3, English, - X%2Dlinked%20juvenile%20retinoschisis

Record number: 3, Textual support number: 1 OBS

Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina.  3, record 3, English, - X%2Dlinked%20juvenile%20retinoschisis

Record number: 3, Textual support number: 2 OBS

retinoschisis: Degenerative splitting of the retina into separate layers.  4, record 3, English, - X%2Dlinked%20juvenile%20retinoschisis

Record 3,  Textual support,  French

Record number: 3, Textual support number: 1 CONT

Rétinoschisis juvénile lié à l'X. [...] Il s'agit d'une affection génétique rare qui atteint, très généralement, les garçons et les jeunes hommes, et qui entraîne une diminution progressive de l'acuité visuelle. [...] On voit apparaître des formations kystiques dans la rétine, ce qui va entraîner un clivage rétinien à l'origine des altérations anatomiques [...]  1, record 3, French, - r%C3%A9tinoschisis%20juv%C3%A9nile%20li%C3%A9%20%C3%A0%20l%27X

Record 3,  Textual support,  Spanish

Record 4,  Textual support,  English

Record number: 4, Textual support number: 1 CONT

McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in males.... This condition affects movement in many parts of the body. People with this condition also have abnormal star-shaped red blood cells(acanthocytosis).... McLeod neuroacanthocytosis syndrome is inherited in an X-linked recessive fashion and is caused by mutations in the XK gene.  4, record 4, English, - McLeod%20syndrome

Record 4,  Textual support,  French

Record number: 4, Textual support number: 1 CONT

Le syndrome de McLeod est une forme de neuro-acanthocytose (NA) liée à l'X, définie par une mutation du gène XK [...]  2, record 4, French, - syndrome%20de%20McLeod

Record 4,  Textual support,  Spanish

Record 5,  Textual support,  English

Record number: 5, Textual support number: 1 CONT

Monoamine oxidase A deficiency is a rare condition that is characterized by mild intellectual disability and behavioral difficulties(including aggressive and sometimes violent behaviors and autistic features).... Signs and symptoms generally develop in childhood and the condition is seen almost exclusively in males. Monoamine oxidase A deficiency is caused by changes(mutations) in the MAOA gene and is inherited in an X-linked recessive manner.  3, record 5, English, - monoamine%20oxidase%20A%20deficiency

Record 5,  Textual support,  French

Record number: 5, Textual support number: 1 CONT

[...] l'association entre un quotient intellectuel relativement faible (autour de 85), un comportement agressif soudain et peu motivé, un niveau anormal de sérotonine ainsi qu'une mutation spécifique du gène MAOA cristallisera dans le monde de la recherche génétique sur la déficience intellectuelle sous le nom de «syndrome de Brunner».  3, record 5, French, - syndrome%20de%20Brunner

Record 5,  Textual support,  Spanish

Record 6,  Textual support,  English

Record number: 6, Textual support number: 1 CONT

Dent disease is a chronic kidney disease that primarily affects males. While symptoms and severity vary, they usually begin in childhood and worsen over time. The most common feature of Dent disease is proteinuria(protein in the urine). Other common features include excess calcium in the urine(hypercalciuria) ;calcium deposits in the kidneys(nephrocalcinosis) ;and kidney stones.... There are two forms of Dent disease which are distinguished based on their genetic causes. Both forms are inherited in an X-linked recessive manner.  3, record 6, English, - Dent%20disease

Record 6,  Textual support,  French

Record number: 6, Textual support number: 1 DEF

Maladie héréditaire récessive, liée à l'X, caractérisée par une hypercalciurie et une protéinurie affectant des protéines de petite taille.  2, record 6, French, - maladie%20de%20Dent

Record 6,  Textual support,  Spanish

Record 7,  Textual support,  English

Record number: 7, Textual support number: 1 CONT

Mucopolysaccharidosis type II(MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline.  7, record 7, English, - Hunter%20syndrome

Record 7,  Textual support,  French

Record number: 7, Textual support number: 1 CONT

La mucopolysaccharidose de type II est une maladie évolutive, progressive [et] multisystémique. […] Il s'agit d'une maladie génétique transmise sur le mode récessif lié au chromosome X.  5, record 7, French, - maladie%20de%20Hunter

Record 7,  Textual support,  Spanish

Record 8,  Textual support,  English

Record number: 8, Textual support number: 1 DEF

[The] hereditary [condition] of primary choroidal degeneration, transmitted as an X-linked trait and beginning in the first decade of life.  3, record 8, English, - choroideremia

Record 8,  Textual support,  French

Record number: 8, Textual support number: 1 DEF

Dystrophie choroïdienne évolutive, liée au chromosome X [...]  3, record 8, French, - choro%C3%AFd%C3%A9r%C3%A9mie

Record 8,  Textual support,  Spanish

Record number: 8, Textual support number: 1 DEF

Distrofia coroidea bilateral y progresiva de herencia recesiva ligada al sexo que cursa con ceguera nocturna desde la infancia acompañada de constricción del campo visual y que suele conducir a la amaurosis prácticamente total.  1, record 8, Spanish, - coroideremia

Record number: 8, Textual support number: 1 OBS

Oftalmoscópicamente se aprecia esclerosis vascular y dispersión pigmentaria de la retina.  1, record 8, Spanish, - coroideremia

Record 9,  Textual support,  English

Record number: 9, Textual support number: 1 DEF

The color blindness in which the sensory mechanisms for blue and yellow are defective.  1, record 9, English, - tritanomaly

Record number: 9, Textual support number: 1 OBS

It occurs both as an autosomal dominant and a less severe X-linked trait.  1, record 9, English, - tritanomaly

Record 9,  Textual support,  French

Record number: 9, Textual support number: 1 DEF

Déficience de perception visuelle du bleu.  1, record 9, French, - tritanomalie

Record 9,  Textual support,  Spanish

Record number: 9, Textual support number: 1 DEF

Debilidad para el [color] azul-amarillo.  1, record 9, Spanish, - tritanomal%C3%ADa

Record 10,  Textual support,  English

Record number: 10, Textual support number: 1 DEF

An autosomal dominant or X-linked disorder in which there isfaulty development of the dental enamel owing to agenesis, hypoplasia, or hypocalcification of the enamel. It is marked by enamel that is very thin and friable and frequently stained in various shades of brown.  1, record 10, English, - amelogenesis%20imperfecta

Record 10,  Textual support,  French

Record number: 10, Textual support number: 1 CONT

Les dyschromies intrinsèques sur les dents pulpées peuvent avoir : des étiologies héréditaires (dentinogénèse ou amélogénèse imparfaites) [...]  1, record 10, French, - am%C3%A9log%C3%A9n%C3%A8se%20imparfaite

Record 10,  Textual support,  Spanish

Record 11,  Textual support,  English

Record number: 11, Textual support number: 1 DEF

An X-linked hereditary bleeding disease caused by a deficiency of factor 1X.  3, record 11, English, - hemophilia%20B

Record 11,  Textual support,  French

Record number: 11, Textual support number: 1 DEF

Affection hémorragique liée au sexe et due à un déficit congénital en facteur antihémophilique B (facteur 1X).  4, record 11, French, - h%C3%A9mophilie%20B

Record number: 11, Textual support number: 1 CONT

La maladie de Christmas, du nom de Steven Christmas, un Canadien, qui, en 1952, a été le premier homme à recevoir un diagnostic de ce type distinct d'hémophilie et hémophilie par déficit en facteur IX, parce que c'est le facteur 9 (écrit en chiffres romains, IX), qui est la protéine sanguine déficitaire et dont l'absence ralentit le processus normal de coagulation.  3, record 11, French, - h%C3%A9mophilie%20B

Record 11,  Textual support,  Spanish

Record 12,  Textual support,  English

Record number: 12, Textual support number: 1 DEF

[A form of diabetes insipidus that] is characterized by a decrease in the ability to concentrate urine due to a resistance to ADH [antidiuretic hormone] action in the kidney.  1, record 12, English, - nephrogenic%20diabetes%20insipidus

Record number: 12, Textual support number: 1 OBS

The rare hereditary form of nephrogenic DI is transmitted as an X-linked genetic defect of the V2 receptor gene. A rare autosomal variant is caused by mutation in the aqua porin gene AQP2, a water-channel exclusively expressed in the collecting ducts of the kidney.  1, record 12, English, - nephrogenic%20diabetes%20insipidus

Record 12,  Textual support,  French

Record number: 12, Textual support number: 1 DEF

[Diabète insipide qui] se caractérise par une diminution de la capacité de concentration urinaire résultant d'une résistance rénale à l'action de l'hormone antidiurétique.  1, record 12, French, - diab%C3%A8te%20insipide%20n%C3%A9phrog%C3%A9nique

Record 12,  Textual support,  Spanish

Record 13,  Textual support,  English

Record number: 13, Textual support number: 1 CONT

Exclusive paternal origin of new mutations in Apert syndrome.  2, record 13, English, - new%20mutation

Record number: 13, Textual support number: 2 CONT

Progressive muscular dystrophy(PMD) is a group of inherited diseases marked by wasting and progressive weakness of the skeletal muscles. The involvement of other organs such as cardiac insufficiency and dilation of stomach can also be demonstrated by a careful examination. The genetic cause may be inherited by three modes of inheritance pattern(dominant, recessive, X-linked), or the gene may also be defective due to a new mutation.  3, record 13, English, - new%20mutation

Record 13,  Textual support,  French

Record number: 13, Textual support number: 1 CONT

Comme l'achondroplasie, le syndrome d'Apert, maladie autosomique dominante, est rarement héritée d'un parent malade, mais survient le plus souvent de façon sporadique par néomutation chez un enfant issu de parents indemnes mais plus agés que la moyenne des couples.  1, record 13, French, - n%C3%A9omutation

Record 13,  Textual support,  Spanish

Record 14,  Textual support,  English

Record number: 14, Textual support number: 1 DEF

The determination of the sex of an embryo, typically by means of PCR [polymerase chain reaction] involving amplification from a small sample of embryonic tissue, using primers specific for a locus on the Y chromosome.  2, record 14, English, - embryo%20sexing

Record number: 14, Textual support number: 1 CONT

FISH [fluorescent in situ hybridisation] is used for the analysis of chromosomes and is the preferred method of embryo sexing for patients at risk of transmitting X-linked diseases.  3, record 14, English, - embryo%20sexing

Record number: 14, Textual support number: 2 CONT

It is now possible to detect some genetic diseases in very early embryos by a procedure known as preimplantation genetic diagnosis(PGD). [...] PGD has primarily been used to determine the sex of embryos for couples who carry a sex linked disease, such as haemophilia or muscular dystrophy,(which affect only boys). Embryo sexing is achieved by subjecting the biopsied cells to fluorescent in situ hybridisation(FISH) where the X-and Y-chromosomes in the cells are labelled red and green.  4, record 14, English, - embryo%20sexing

Record 14,  Textual support,  French

Record number: 14, Textual support number: 1 CONT

Sexage d'embryon. Détermination du sexe d'un embryon avant la naissance. Généralement accomplie par la réaction de polymérisation en chaîne de l'ADN extrait d'un échantillon de tissu embryonnaire. Elle dépend de la disponibilité de marqueurs fiables pour différencier les chromosomes sexuels.  2, record 14, French, - d%C3%A9termination%20du%20sexe%20de%20l%27embryon

Record number: 14, Textual support number: 2 CONT

La réalisation du caryotype foetal doit être proposée en cas de diagnostic prénatal de maladie génique récessive liée au sexe comme la myopathie de Duchenne ou l'hémophilie, la détermination du sexe de l'embryon est nécessaire pour évaluer un premier risque ; seul les garçons sont atteints (un sur deux).  3, record 14, French, - d%C3%A9termination%20du%20sexe%20de%20l%27embryon

Record 14,  Textual support,  Spanish

Record number: 14, Textual support number: 1 DEF

Localización de algunos factores que determinan el sexo biológico [del embrión], por ejemplo, los cromosomas sexuales presentes en las células del individuo.  3, record 14, Spanish, - determinaci%C3%B3n%20del%20sexo%20del%20embri%C3%B3n

Record number: 14, Textual support number: 1 CONT

Sexaje de embriones. Determinación del sexo del embrión antes del nacimiento. Generalmente se realiza aplicando la reacción en cadena de la polimerasa para amplificar el ADN extraído de una muestra del tejido embrionario. Depende de la disponibilidad de marcadores fiables para el cromosoma sexual diferencial.  4, record 14, Spanish, - determinaci%C3%B3n%20del%20sexo%20del%20embri%C3%B3n

Record 15,  Textual support,  English

Record number: 15, Textual support number: 1 DEF

[An] X-linked recessive syndrome is characterized clinically by the triad of eczema, thrombocytopenic purpura, and undue susceptibility to infection.  3, record 15, English, - Wiskott%2DAldrich%20syndrome

Record number: 15, Textual support number: 1 OBS

Often there is prolonged oozing from the circumcision site or bloody diarrhea during infancy. Atopic dermatitis and recurrent infections usually develop during the first year of life. Infections are caused by pneumococci and other bacteria with polysaccharide capsules, resulting in episodes of otitis media, pneumonia, meningitis, and sepsis. Later, infections with Pneumocystis carinii and the herpesviruses become more frequent.  3, record 15, English, - Wiskott%2DAldrich%20syndrome

Record 15,  Textual support,  French

Record number: 15, Textual support number: 1 DEF

Déficit immunitaire, héréditaire, de transmission récessive liée au chromosome X [...] caractérisé par l'association d'une thrombopénie, d'un eczéma, d'infections à répétition et éventuellement de manifestations auto-immunes et de lymphomes.  1, record 15, French, - syndrome%20de%20Wiskott%2DAldrich

Record 15,  Textual support,  Spanish

Record 16,  Textual support,  English

Record number: 16, Textual support number: 1 DEF

Deficiency in phagocytosis. This is an X-linked inherited disorder that results in chronic granulomatous lesions of lymph nodes, liver, bone, skin, and lung. Patients have marked lymphadenopathy and hepato-splenomegaly. The responsible organism usually are Staphylococcus aureus, Escherichia coli, or fungi.  1, record 16, English, - chronic%20granulomatous%20disease

Record 16,  Textual support,  French

Record number: 16, Textual support number: 1 DEF

Anomalie qualitative des granulocytes [...] affection transmise selon le mode récessif lié au sexe, ou plus rarement autosomique récessif.  2, record 16, French, - granulomatose%20septique%20chronique

Record number: 16, Textual support number: 2 DEF

Atteinte héréditaire de la fonction leucocytaire bactéricide caractérisée par des lésions granulomateuses disséminées de la peau, des poumons et des ganglions lymphatiques, une hypergammaglobulinémie, avec anémie et leucocytose, et un défaut de destruction de certaines bactéries et champignons.  3, record 16, French, - granulomatose%20septique%20chronique

Record 16,  Textual support,  Spanish

Record 17,  Textual support,  English

Record number: 17, Textual support number: 1 DEF

[Any of a] group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels.  1, record 17, English, - severe%20combined%20immunologic%20deficiency

Record number: 17, Textual support number: 1 OBS

It is inherited as an X-linked or autosomal recessive defect.  1, record 17, English, - severe%20combined%20immunologic%20deficiency

Record 17,  Textual support,  French

Record number: 17, Textual support number: 1 CONT

l'immunodéficience combinée sévère humaine (SCID-X1), [est] une maladie héréditaire pouvant être létale touchant le chromosome X.  1, record 17, French, - Immunod%C3%A9ficience%20combin%C3%A9e%20grave

Record number: 17, Textual support number: 2 CONT

L'immunodéficience combinée sévère (DICS X1) liée au chromosome X, maladie héréditaire rare [...] ne frappe que les garçons. Caractérisée par l'absence totale de cellules de défense, elle laisse le malade à la merci de la moindre infection, provoquant sa mort en l'absence de greffe de moelle osseuse ou de l'abri en chambre stérile.  2, record 17, French, - Immunod%C3%A9ficience%20combin%C3%A9e%20grave

Record 17,  Textual support,  Spanish

Record 18,  Textual support,  English

Record number: 18, Textual support number: 1 DEF

Congenital defect of copper metabolism manifested in short, sparse, poorly pigmented kinky hair; associated with failure to thrive, physical and mental retardation, and progressive severe deterioration of the brain; apparently a defect of copper transport; X-linked recessive inheritance.  1, record 18, English, - kinky%2Dhair%20disease

Record 18,  Textual support,  French

Record number: 18, Textual support number: 1 DEF

Maladie héréditaire intestinale du cuivre entraînant des lésions osseuses pseudoscorbiques, un aspect particulier des cheveux, une hypocuprémie avec diminution très importante du cuivre céruléoplamatique dans le sérum et du cuivre dans les tissus.  2, record 18, French, - maladie%20de%20Menkes

Record 18,  Textual support,  Spanish

Record number: 18, Textual support number: 1 DEF

Anomalía patológica hereditaria caracterizada por anomalías en el metabolismo del cobre.  1, record 18, Spanish, - enfermedad%20de%20Menkes

Record 19,  Textual support,  English

Record number: 19, Textual support number: 1 CONT

There is a form of the disease [spinal muscular atrophy(SMA]) known as X-linked spinal-bulbar muscular atrophy(SBMA), also known as Kennedy's disease, that arises from a defect in a gene called the androgen receptor gene on the X chromosome.  1, record 19, English, - spinal%2Dbulbar%20muscular%20atrophy

Record 19,  Textual support,  French

Record number: 19, Textual support number: 1 CONT

La maladie de Kennedy ou atrophie musculaire spinale et bulbaire résulte de la multiplication d'un codon : CAG dans le gène. Il y a de 11 à 33 copies de ce codon chez les personnes non atteintes et 40-62 chez les malades.  1, record 19, French, - maladie%20de%20Kennedy

Record 19,  Textual support,  Spanish

Record 20,  Textual support,  English

Record number: 20, Textual support number: 1 CONT

A Novel Mutation in the Sex Determining Region on Y(SRY) Gene as an Etiology of Familial Swyer Syndrome. Swyer Syndrome(SWY) is a failure of testicular differentiation that results in 46, XY sex reversed females. Unlike sporadic SWY, familial cases of SWY appear to be transmitted through 46, XX carrier females and maybe due to X-linked or autosomal genes downstream from SRY in the sexual differentiation cascade. Carriers of a mutation in SRY would be expected to be affected with SWY and be sterile. This report describes two siblings with SWY who have been previously found to have a normal SRY gene with polymerase chain reaction(PCR)  4, record 20, English, - sex%20determining%20region%20on%20Y

Record 20,  Textual support,  French

Record number: 20, Textual support number: 1 DEF

Gène du chromosome Y qui joue un rôle important dans la détermination du sexe.  4, record 20, French, - g%C3%A8ne%20SRY

Record 20,  Textual support,  Spanish

Record 21,  Textual support,  English

Record number: 21, Textual support number: 1 DEF

X-linked immunodeficiency with undue susceptibility to Epstein-Barr virus.  2, record 21, English, - X%2Dlinked%20lymphoproliferative%20disease

Record number: 21, Textual support number: 2 DEF

A rare disease of apparently immunologically normal males who, upon first infection with Epstein-Barr virus, develop fulminating infectious mononucleosis, agammaglobulinemia, or B-cell lymphoma, or bone-marrow aplasia. It shows the inheritance characteristic of X chromosome genetic defects.  2, record 21, English, - X%2Dlinked%20lymphoproliferative%20disease

Record 21,  Textual support,  French

Record number: 21, Textual support number: 1 CONT

Déficit immunitaire avec réponse anormale vis-à-vis du virus d'Epstein-Barr (...) Une susceptibilité familiale de transmission récessive liée au sexe a été décrite pour le virus EB responsable de mononucléose sévère, de sarcome ou d'hypogammaglobulinémie chez les garçons d'une même famille.  2, record 21, French, - syndrome%20lymphoprolif%C3%A9ratif%20reli%C3%A9%20au%20chromosome%20X

Record 21,  Textual support,  Spanish

Record 22,  Textual support,  English

Record number: 22, Textual support number: 1 CONT

Severe combined immunodeficiency.... Swiss-type agammaglobulinemia... In another form B cells are present at normal levels but antibody response is absent owing to lack of T cells; and the pattern of inheritance may be either autosomal recessive or X-linked.  1, record 22, English, - Swiss%2Dtype%20agammaglobulinemia

Record 22,  Textual support,  French

Record number: 22, Textual support number: 1 CONT

(On distingue deux types de) déficit immunitaire combiné sévère avec déficit complet en cellules T et présence de cellules B (reconnaissables par leurs marqueurs mais ne produisant pas d'Ig): 1. le déficit sélectif en précurseurs lymphoïdes T, affection génétique de transmission autosomique récessive ou liée au sexe avec absence totale de lymphocytes T et agammaglobulinémie malgré la présence d'un nombre élevé de cellules B; 2. le déficit primitif de l'épithélium thymique (avec en particulier déficit de la sécrétion des hormones thymiques).  1, record 22, French, - d%C3%A9ficit%20s%C3%A9lectif%20en%20pr%C3%A9curseurs%20lympho%C3%AFdes%20T

Record 22,  Textual support,  Spanish

Record 23,  Textual support,  English

Record number: 23, Textual support number: 1 DEF

Any of four forms of rickets, namely X-linked hypophosphatemia, familial hypophosphatemic osteomalacia, or either of two forms of inherited vitamin D-dependent rickets.  2, record 23, English, - hereditary%20hypophosphatemic%20rickets

Record 23,  Textual support,  French

Record number: 23, Textual support number: 1 OBS

Médecine/Sciences, vol. 2, no. 8, octobre 1986, page 429.  1, record 23, French, - rachitisme%20hypophosphat%C3%A9mique%20h%C3%A9r%C3%A9ditaire

Record 23,  Textual support,  Spanish

Record 24,  Textual support,  English

Record number: 24, Textual support number: 1 DEF

A syndrome, inherited as an X-linked recessive trait, that is characterized by mental retardation, macroorchidism, and mild abnormalities of connective tissue.  1, record 24, English, - fragile%20X%20syndrome

Record 24,  Textual support,  French

Record number: 24, Textual support number: 1 CONT

Parmi les encéphalopathies avec anomalies de gonosomes, une est importante à connaître en raison de sa fréquence chez les garçons, c'est le syndrome de l'X fragile (...)  1, record 24, French, - syndrome%20de%20l%27X%20fragile

Record 24,  Textual support,  Spanish