Diko : en:1p21.3 microdeletion syndrome

en:1p21.3 microdeletion syndrome

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:CL516291

Associations d'idées

[F]

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208

en:oculopalatocerebral syndrome

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en:huntington disease

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en:12q14 microdeletion syndrome

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en:shprintzen-goldberg syndrome

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en:x-linked intellectual disability with cubitus valgus and dysmorphism syndrome

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en:aldred syndrome

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en:kosztolanyi syndrome

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en:atkin syndrome

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en:scholte syndrome

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en:microcephaly deafness syndrome

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en:neuronal ceroid-lipofuscinoses

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en:intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome

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en:x-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

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en:temtamy syndrome

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en:classical phenylketonuria

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en:fragile x syndrome

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en:histidinemia

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en:alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

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en:fine-lubinsky syndrome

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en:orofaciodigital syndrome 5

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en:sesame syndrome

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en:aniridia and intellectual disability syndrome

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en:x-linked intellectual disability shrimpton type

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en:volcke soekarman syndrome

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en:alopecia contractures dwarfism mental retardation

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en:x-linked intellectual disability cilliers type

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en:x-linked intellectual disability stevenson type

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en:scott bryant graham syndrome

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en:microphthalmia, syndromic 4 (disorder)

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en:de sanctis-cacchione syndrome

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en:waisman syndrome

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en:alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

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en:cerebrofaciothoracic dysplasia

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en:de barsy syndrome

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en:gurrieri sammito bellussi syndrome

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en:marfanoid mental retardation syndrome

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en:masa syndrome (disorder)

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en:mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity (disorder)

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en:ossification anomaly with psychomotor developmental delay syndrome

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en:severe mental retardation (i.q. 20-34)

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en:congenital qualifier

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en:partington x-linked mental retardation syndrome

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en:prader-willi syndrome

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en:tranebjaerg svejgaard syndrome

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en:spondyloepiphyseal dysplasia tarda kohn type

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en:x-linked intellectual disability seemanova type

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en:lubani al saleh teebi syndrome

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en:juberg-marsidi syndrome

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en:high-functioning autism

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en:cahmr syndrome

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en:autistic disorder, current or active state

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en:lubs x-linked mental retardation syndrome

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en:smith-magenis syndrome

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en:unspecified mental retardation; significant impairment of behaviour requiring attention or treatment

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en:unspecified mental retardation; with the statement of no, or minimal, impairment of behaviour

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en:brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation

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en:congenital hypoplasia of ulna and intellectual disability syndrome

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

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en:digitorenocerebral syndrome

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en:hypospadias-mental retardation syndrome

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en:intellectual disability with cataract and kyphosis syndrome

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en:active infantile autism

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en:mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait

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en:maple syrup urine disease

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en:trisomy xq28 syndrome

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en:deafness and intellectual disability martin probst type syndrome

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en:cooper jabs syndrome

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en:orofaciodigital syndrome x

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en:x-linked intellectual disability turner type

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en:x-linked intellectual disability abidi type

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en:uveal coloboma with cleft lip and palate and intellectual disability syndrome

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en:trisomy 10p

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en:spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome

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en:prader-willi habitus, osteopenia, and camptodactyly

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en:autism and facial port-wine stain syndrome

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en:coffin-siris syndrome

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en:dandy-walker malformation with mental retardation, basal ganglia disease, and seizures

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en:hernandez aguirre-negrete syndrome

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en:karandikar maria kamble syndrome

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en:x-linked intellectual disability stocco dos santos type

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en:oculocerebrorenal syndrome

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en:unspecified mental retardation; without mention of impairment of behaviour

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en:mental retardation, x-linked, syndromic 7

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en:ectodermal dysplasia with blindness syndrome

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en:orofaciodigital syndrome 11

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en:wieacker-wolff syndrome

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en:x-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome

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en:x-linked intellectual disability armfield type

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en:x-linked intellectual disability van esch type

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

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en:x-linked intellectual disability zorick type

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en:kaufman oculocerebrofacial syndrome

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en:x-linked intellectual disability schimke type

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en:corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia

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en:x-linked intellectual disability with cerebellar hypoplasia syndrome

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en:blepharophimosis syndrome ohdo type

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en:syndromic x-linked intellectual disability due to jarid1c mutation

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en:profound intellectual disabilities

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en:fried syndrome

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en:borjeson-forssman-lehmann syndrome

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en:unspecified mental retardation; other impairments of behaviour

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en:angelman syndrome

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en:female restricted epilepsy with intellectual disability syndrome

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en:schaap taylor baraitser syndrome

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en:kapur toriello syndrome

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

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en:winship viljoen leary syndrome

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en:zunich neuroectodermal syndrome

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en:rett syndrome

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en:orofaciodigital syndrome 8

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en:mental retardation smith fineman myers type

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en:martsolf syndrome

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en:morm syndrome

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en:moderate mental retardation (i.q. 35-49)

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en:other mental retardation

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en:17q11.2 microduplication syndrome

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en:al gazali sabrinathan nair syndrome

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en:chromosome 19q13.11 deletion syndrome

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en:erythrokeratodermia variabilis 3 (disorder)

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en:goniodysgenesis-mental retardation-short stature syndrome

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en:leukoencephalopathy, cystic, without megalencephaly

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en:severe x-linked intellectual disability gustavson type

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en:siderius x-linked mental retardation syndrome

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en:wilson turner syndrome

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en:achalasia microcephaly

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en:al gazali aziz salem syndrome

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en:cerebrooculonasal syndrome

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en:congenital cataract with ataxia and deafness syndrome

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en:der kaloustian mcintosh silver syndrome

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en:fitzsimmons-mclachlan-gilbert syndrome

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en:hair defect with photosensitivity and mental retardation

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en:harrod doman keele syndrome

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en:x-linked intellectual disability, macrocephaly, macroorchidism syndrome

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en:nutritional mental retardation

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en:viljoen kallis voges syndrome

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en:pallister w syndrome

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en:opitz trigonocephaly syndrome

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en:residual infantile autism

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en:mental retardation syndrome, belgian type

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en:hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation

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en:fountain syndrome

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en:brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear-eye anomalies, cleft palate-cryptorchidism, and kidney dysplasia-hypoplasia

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en:x-linked intellectual disability cantagrel type

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en:x-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome

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en:cantalamessa baldini ambrosi syndrome

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en:x-linked intellectual disability miles carpenter type

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en:hyperphosphatasia with mental retardation

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en:partial monosomy

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en:sohval soffer syndrome

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en:microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome

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en:lujan fryns syndrome

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en:verloes gillerot fryns syndrome

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en:goldberg-shprintzen megacolon syndrome

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en:down syndrome

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en:brachioskeletogenital syndrome

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en:klinefelter syndrome

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en:gaucher disease

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en:cleft palate with short stature and vertebral anomaly syndrome

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en:tuberous sclerosis

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en:homocystinuria

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en:x-linked intellectual disability wilson type

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en:pfeiffer kapferer syndrome

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en:kabuki make-up syndrome

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en:lowry maclean syndrome

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en:ladda zonana ramer syndrome

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en:bardet-biedl syndrome

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en:orotic aciduria

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en:ataxia with deafness and intellectual disability syndrome

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en:adams oliver syndrome

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en:mental retardation, x-linked, snyder-robinson type

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en:biemond syndrome type 2

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en:syndromic x-linked intellectual disability type 11

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en:brachymorphism-onychodysplasia-dysphalangism syndrome

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en:deletion of short arm

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en:x-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome

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en:x-linked intellectual disability stoll type

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syndrome

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en:plagiocephaly and x-linked mental retardation

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en:mowat-wilson syndrome

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en:lipodystrophy, intellectual disability, deafness syndrome

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en:laurence-moon syndrome

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en:cask related intellectual disability

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en:savant syndrome

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en:lesch-nyhan syndrome

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en:mild mental retardation

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en:agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

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en:arachnodactyly and intellectual disability with facial dysmorphism syndrome

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en:corpus callosum, agenesis of, with facial anomalies and robin sequence

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en:hall riggs syndrome

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en:kohlschutter tonz syndrome

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en:orofaciodigital syndrome 9

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en:pashayan syndrome

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en:growth retardation, alopecia, pseudoanodontia and optic atrophy

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en:wolf-hirschhorn syndrome

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en:x-linked intellectual disability with precocious puberty and obesity syndrome

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en:borderline mental retardation (i.q. 70-85)

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en:fraxe intellectual disability syndrome

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en:mcdonough syndrome

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en:mental retardation, skeletal dysplasia, and abducens palsy

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en:osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome

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en:perniola krajewska carnevale syndrome

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en:prieto badia mulas syndrome

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en:renpenning syndrome 1

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en:x-linked intellectual disability pai type

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en:deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

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en:mental retardation spasticity ectrodactyly

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en:piussan lenaerts mathieu syndrome

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