About: Severe mental retardation

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Attributes	Values
rdf:type	Item
ICD-10	wds:Q12373588-1990e0c4-485c-f20f-6623-51607cedc4ca
ICD-10	F72
rdfs:label	Raske vaimne alaareng (et) Severe mental retardation (en) déficience intellectuelle sévère (fr) grava intelekta malkapablo (eo) huda intelektualna oviranost (sl)
skos:prefLabel	Raske vaimne alaareng (et) Severe mental retardation (en) déficience intellectuelle sévère (fr) grava intelekta malkapablo (eo) huda intelektualna oviranost (sl)
name	Raske vaimne alaareng (et) Severe mental retardation (en) déficience intellectuelle sévère (fr) grava intelekta malkapablo (eo) huda intelektualna oviranost (sl)
follows	wds:Q12373588-836a244f-49ab-aeb3-cea2-a569ed554b37
has characteristic	wds:Q12373588-2d95a7f4-428b-33d6-25e5-f2586c04cb5e wds:Q12373588-b436ab40-4132-4274-8300-ce8400da994a
followed by	wds:Q12373588-3d707585-488b-addb-0560-39e332ee80f6
follows	profound intellectual disability
has characteristic	severe intelligence quotient
followed by	moderate mental retardation
subclass of	wds:Q12373588-c8c0531e-4a13-50e7-e024-cfcf55c230c0
subclass of	idiot
Medical Dictionary...ory Activities ID	wds:Q12373588-46B27340-0E17-4404-B88A-DC70E0806EC1
Medical Dictionary...ory Activities ID	http://purl.bioontology.org/ontology/MDRFRE/10040443
Medical Dictionary...ory Activities ID	10040443
UMLS CUI	wds:Q12373588-3edb50f7-42cc-1138-475e-3a1aae9dbd1b
ICD-11 ID (MMS)	wds:Q12373588-dd863098-a7b3-4bb2-b2f9-b8ea65f72622
ICD-11 (foundation)	wds:Q12373588-3716682e-453e-c4e8-2ac9-16684355f989
UMLS CUI	C0036857
ICD-11 ID (MMS)	6A00.2
ICD-11 (foundation)	1508286189
DSM-IV classification	wds:Q12373588-197c8a93-4a14-b19c-8603-14b27c24db30
DSM-IV classification	318.1
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q12373588 https://et.wikipedia.org/wiki/Raske_vaimne_alaareng
is follows of	moderate mental retardation
is followed by of	profound intellectual disability
is follows of	wds:Q12370769-f15d1035-40ed-1003-5d40-764eb886d90e
is followed by of	wds:Q11791661-838d10c0-4596-2b43-617a-27766477e743
is main subject of	MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28. Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation Intensive behavioral treatment for preschoolers with severe mental retardation and pervasive developmental disorder Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Severe Mental Retardation in a Swedish County – II. Etiologic and Pathogenetic Aspects of Children Born 1959–1970 Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24 Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly Threshold for radiation-related severe mental retardation in prenatally exposed A-bomb survivors: a re-analysis. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation Severe mental retardation and macroorchidism without mutation in the FMR1 gene Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. Embryonic testicular regression syndrome and severe mental retardation in sibs. Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy. A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype. Severe mental retardation after large prenatal exposures to bomb radiation. Reduction in oxygen transport to fetal brain: a possible abscopal mechanism CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. Outcome after corpus callosotomy in children with injurious drop attacks and severe mental retardation Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy. Discussion: severe mental retardation and cancer among atomic bomb survivors exposed in utero Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers Severe Mental Retardation in Turner’s Syndrome and an Additional Mosaic with a Centric Chromosome Fragment Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX Bilateral aniridia, multiple webs and severe mental retardation in a 47,XXY-48,XXXY mosaic. Generalized language learning by children with severe mental retardation: effects of peers' expressive modeling Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers. Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities Aetiology of severe mental retardation and further genetic analysis by high-resolution microarray in a population-based series of 6- to 17-year-old children. Severe mental retardation and absent nails of Hallux and Pollex Severe mental retardation in children: incidence, prevalence, etiology and multihandicap Transition for young adults with severe mental retardation: school preparation, parent expectations, and family involvement. Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuria X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. Epidemiological and preventive aspects of cerebral palsy and severe mental retardation in Sweden

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