Diko : en:walker-warburg congenital muscular dystrophy

en:walker-warburg congenital muscular dystrophy

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Liens externes

›

umls:C0265221

Associations d'idées

[F]

›

en:walker-warburg syndrome

•

hard syndrome

•

syndrome de Walker-Warburg

•

syndrome de Chemke

•

syndrome de warburg

•

syndrome de Warburg

•

Warburg

•

en:congenital analbuminemia

•

en:hall riggs syndrome

•

en:palmoplantar keratoderma, 46,xx sex reversal, predisposition to squamous cell carcinoma syndrome

•

en:dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

•

en:cervical hypertrichosis and peripheral neuropathy syndrome

•

en:ehlers-danlos syndrome kyphoscoliotic and deafness type

•

en:kallman syndrome with heart disease

•

en:adducted thumbs and arthrogryposis syndrome christian type

•

en:aphalangy and syndactyly with microcephaly syndrome

•

en:generalized peeling skin syndrome

•

en:craniofacial ulnar renal syndrome

•

en:mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency

•

en:cooper jabs syndrome

•

en:primary immunodeficiency syndrome due to p14 deficiency

•

en:familial median cleft of upper and lower lip

•

en:najjar syndrome

•

en:pelviscapular dysplasia

•

en:acrorenal mandibular syndrome

•

en:manouvrier syndrome

•

en:congenital disorder of glycosylation type 2e

•

en:spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

•

en:lethal larsen-like syndrome

•

en:autosomal recessive spastic paraplegia type 39

•

en:moyamoya disease with early onset achalasia

•

en:x-linked intellectual disability with ataxia and apraxia syndrome

•

en:x-linked intellectual disability with acromegaly and hyperactivity syndrome

•

en:spondyloepiphyseal dysplasia tarda kohn type

•

en:autosomal dominant focal dystonia dyt25 type

•

en:x-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome

•

en:acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein

•

en:glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

•

en:robinow-like syndrome

•

en:congenital disorder of glycosylation type 1h

•

en:zellweger-like syndrome without peroxisomal anomaly

•

en:deafness and myopia syndrome

•

en:braddock syndrome

•

en:congenital cataract with ataxia and deafness syndrome

•

en:lissencephaly type 3 familial fetal akinesia sequence syndrome

•

en:oculocutaneous albinism type 6

•

en:juvenile amyotrophic lateral sclerosis

•

en:cutaneous photosensitivity and lethal colitis syndrome

•

en:hypomandibular faciocranial dysostosis

•

en:ectodermal dysplasia with blindness syndrome

•

en:diaphanospondylodysostosis

•

en:yemenite deaf-blind hypopigmentation syndrome

•

en:microcephaly albinism digital anomalies syndrome

•

en:pomt1, 1-bp dup, 2167g

•

en:split-hand/foot malformation 3

•

en:bestrophinopathy, autosomal recessive

•

en:pomt1, 3-bp del, 1260cct

•

en:pomt1, gln303ter

•

en:muscular dystrophy, congenital, with central nervous system involvement

•

en:pomt1, 1-bp ins, 2110g

•

en:pomt1, 3-bp del, 418atg

•

en:pomt1, 2-bp del, 2179tc

•

en:pomt1, gly76arg

•

en:brain calcification rajab type

•

en:cod (cerebroocular dysgenesis)

•

en:walker-warburg syndrome, fktn-related

•

en:polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

•

en:duchenne or becker muscular dystrophy

•

en:insulin growth factor i deficiency

•

en:Triple a syndrome

•

Walker-Warburg (syndrome de)

•

en:type a 14

•

en:muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)

•

en:congenital disorder of glycosylation, type if

•

en:anauxetic dysplasia

•

en:renal dysplasia - limb defects syndrome

•

en:maternal diabetes and deafness syndrome

•

en:heart defects limb shortening

•

en:fountain syndrome

•

en:bamforth syndrome

•

en:halal syndrome

•

en:cortical dysplasia-focal epilepsy syndrome

•

en:insulin receptor mutation - associated insulin resistance syndromes

•

en:single central incisor syndrome

•

en:10p13-p14 deletion syndrome

•

en:autoimmune polyglandular syndrome

•

en:multiple vascular disruption syndrome

•

en:bethlem myopathy 1

•

en:chromosome 16p12.1 deletion syndrome

•

en:miyoshi myopathy

•

en:muscular dystrophy, limb-girdle, type 2i

•

en:kenny-caffey syndrome type 2

•

en:mullerian-renal-cervical spine syndrome

•

en:wilms tumor 1 gene syndromes

•

en:triple a syndrome

•

en:late-onset junctional epidermolysis bullosa

•

en:pili torti onychodysplasia syndrome

•

en:leukoencephalopathy with metaphyseal chondrodysplasia syndrome

◀

‹

102

syndrome de warburg

•

en:Triple a syndrome

•

en:pelviscapular dysplasia

•

en:spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

•

en:dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

•

en:congenital disorder of glycosylation, type if

•

syndrome de Walker-Warburg

•

syndrome de Warburg

•

en:walker-warburg syndrome

•

en:ehlers-danlos syndrome kyphoscoliotic and deafness type

•

en:triple a syndrome

•

Walker-Warburg (syndrome de)

•

en:cooper jabs syndrome

•

en:polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome

•

en:microcephaly albinism digital anomalies syndrome

•

en:congenital disorder of glycosylation type 1h

•

en:aphalangy and syndactyly with microcephaly syndrome

•

en:lethal larsen-like syndrome

•

en:oculocutaneous albinism type 6

•

en:leukoencephalopathy with metaphyseal chondrodysplasia syndrome

•

en:manouvrier syndrome

•

en:pomt1, gly76arg

•

en:maternal diabetes and deafness syndrome

•

en:halal syndrome

•

en:heart defects limb shortening

•

en:diaphanospondylodysostosis

•

en:cutaneous photosensitivity and lethal colitis syndrome

•

en:generalized peeling skin syndrome

•

en:mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency

•

en:zellweger-like syndrome without peroxisomal anomaly

•

en:lissencephaly type 3 familial fetal akinesia sequence syndrome

•

en:deafness and myopia syndrome

•

en:autosomal recessive spastic paraplegia type 39

•

en:autosomal dominant focal dystonia dyt25 type

•

en:pomt1, 2-bp del, 2179tc

•

en:pomt1, 1-bp ins, 2110g

•

en:pomt1, gln303ter

•

en:late-onset junctional epidermolysis bullosa

•

en:chromosome 16p12.1 deletion syndrome

•

en:autoimmune polyglandular syndrome

•

en:10p13-p14 deletion syndrome

•

en:bamforth syndrome

•

en:congenital analbuminemia

•

en:braddock syndrome

•

en:miyoshi myopathy

•

en:muscular dystrophy, limb-girdle, type 2i

•

en:insulin growth factor i deficiency

•

en:brain calcification rajab type

•

en:anauxetic dysplasia

•

en:mullerian-renal-cervical spine syndrome

•

en:single central incisor syndrome

•

en:adducted thumbs and arthrogryposis syndrome christian type

•

en:cervical hypertrichosis and peripheral neuropathy syndrome

•

en:x-linked intellectual disability with ataxia and apraxia syndrome

•

en:craniofacial ulnar renal syndrome

•

en:pomt1, 3-bp del, 1260cct

•

en:muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)

•

en:pomt1, 3-bp del, 418atg

•

en:bethlem myopathy 1

•

en:kenny-caffey syndrome type 2

•

en:juvenile amyotrophic lateral sclerosis

•

en:x-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome

•

syndrome de Chemke

•

en:split-hand/foot malformation 3

•

en:duchenne or becker muscular dystrophy

•

en:walker-warburg syndrome, fktn-related

•

en:cod (cerebroocular dysgenesis)

•

en:muscular dystrophy, congenital, with central nervous system involvement

•

en:glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

•

en:pili torti onychodysplasia syndrome

•

en:wilms tumor 1 gene syndromes

•

en:hypomandibular faciocranial dysostosis

•

en:familial median cleft of upper and lower lip

•

en:moyamoya disease with early onset achalasia

•

en:insulin receptor mutation - associated insulin resistance syndromes

•

en:type a 14

•

hard syndrome

•

en:multiple vascular disruption syndrome

•

en:ectodermal dysplasia with blindness syndrome

•

en:cortical dysplasia-focal epilepsy syndrome

•

en:fountain syndrome

•

en:yemenite deaf-blind hypopigmentation syndrome

•

en:congenital cataract with ataxia and deafness syndrome

•

en:acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein

•

Warburg

•

en:pomt1, 1-bp dup, 2167g

•

en:bestrophinopathy, autosomal recessive

•

en:renal dysplasia - limb defects syndrome

•

en:acrorenal mandibular syndrome

•

en:najjar syndrome

•

en:palmoplantar keratoderma, 46,xx sex reversal, predisposition to squamous cell carcinoma syndrome

•

en:kallman syndrome with heart disease

•

en:hall riggs syndrome

•

en:congenital disorder of glycosylation type 2e

•

en:primary immunodeficiency syndrome due to p14 deficiency

•

en:robinow-like syndrome

•

en:spondyloepiphyseal dysplasia tarda kohn type

•

en:x-linked intellectual disability with acromegaly and hyperactivity syndrome

•

en:Chemke's syndrome

•

Syndrome de Walker-Warburg

•

Chemke (syndrome de)

•

syndromes du gène 1 de la tumeur de Wilms

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9102619 • caches: c1=6 c2=104 c3=103

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]

A propos

Champs masqués