ORPHA:611314
Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome | |
| fr | Déficience intellectuelle syndromique rare sans anomalies congénitales multiples/syndrome dysmorphique | |
| de | Seltene syndromale Intelligenzminderung ohne multiple kongenitale Anomalien/Dysmorphien | |
| es | Discapacidad intelectual sindrómica rara sin anomalías congénitas múltiples/síndrome dismórfico | |
| it | Sindrome disabilità intellettiva sindromica rara senza anomalie/dismorfismi congeniti multipli | |
| nl | Zeldzame syndromale intellectuele achterstand zonder multipele congenitale anomalieën/dysmorfie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual sindromática rara sem anomalias congénitas múltiplas/dismorfia | |
| pl | Rzadki zespół syndomicznej niepełnosprawności intelektualnej bez licznych wad wrodzonych/zespołu dysmorficznego | |
| cs | Vzácná syndromická mentální retardace bez mnohočetných vrozených vad/dysmorfie | |
| uk | Рідкісна синдромальна інтелектуальна недостатність без множинних вроджених аномалій/дисморфічного синдрому |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681520 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183763Rare genetic syndromic intellectual disability
rare genetic diseases - ORPHA:102369Rare syndromic intellectual disability
rare neurological diseases
Children (428):
- ORPHA:2939481p21.3 microdeletion syndrome
- ORPHA:6998502p25.3 microduplication syndrome
- ORPHA:670463-methylglutaconic aciduria type 1
- ORPHA:5052083-methylglutaconic aciduria type 8
- ORPHA:5052163-methylglutaconic aciduria type 9
- ORPHA:4450383-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- ORPHA:5311519q21.13 microdeletion syndrome
- ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- ORPHA:250977AICA-ribosiduria
- ORPHA:79327ALG1-CDG
- ORPHA:280071ALG11-CDG
- ORPHA:79324ALG12-CDG
- ORPHA:324422ALG13-CDG
- ORPHA:79326ALG2-CDG
- ORPHA:79321ALG3-CDG
- ORPHA:79320ALG6-CDG
- ORPHA:79325ALG8-CDG
- ORPHA:79328ALG9-CDG
- ORPHA:157954ANE syndrome
- ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndrome
- ORPHA:2500Acrogeria
- ORPHA:674653Actinomyopathy-associated syndromic thrombocytopenia
- ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ORPHA:46Adenylosuccinate lyase deficiency
- ORPHA:773Adult Refsum disease
- ORPHA:589830Adult-onset Steinert myotonic dystrophy
- ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia
- ORPHA:50Aicardi syndrome
- ORPHA:51Aicardi-Goutières syndrome
- ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:59Allan-Herndon-Dudley syndrome
- ORPHA:1008Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- ORPHA:2850Alopecia-intellectual disability syndrome
- ORPHA:726Alpers-Huttenlocher syndrome
- ORPHA:3137Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- ORPHA:61Alpha-mannosidosis
- ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:64Alström syndrome
- ORPHA:1946Amelocerebrohypohidrotic syndrome
- ORPHA:137754Aminoacylase 1 deficiency
- ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome
- ORPHA:611216Aplastic anemia-intellectual disability-dwarfism syndrome
- ORPHA:23Argininosuccinic aciduria
- ORPHA:93Aspartylglucosaminuria
- ORPHA:1188Ataxia-deafness-intellectual disability syndrome
- ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- ORPHA:100Ataxia-telangiectasia
- ORPHA:251347Ataxia-telangiectasia-like disorder
- ORPHA:3095Atypical Rett syndrome
- ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- ORPHA:98808Autosomal dominant dopa-responsive dystonia
- ORPHA:100991Autosomal dominant spastic paraplegia type 10
- ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency
- ORPHA:88644Autosomal recessive ataxia, Beauce type
- ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:404481Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
- ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3
- ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
- ORPHA:357058Autosomal recessive cutis laxa type 2A
- ORPHA:101150Autosomal recessive dopa-responsive dystonia
- ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- ORPHA:621Autosomal recessive methemoglobinemia
- ORPHA:93607Autosomal recessive proximal renal tubular acidosis
- ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathy
- ORPHA:2822Autosomal recessive spastic paraplegia type 11
- ORPHA:101000Autosomal recessive spastic paraplegia type 20
- ORPHA:101006Autosomal recessive spastic paraplegia type 26
- ORPHA:320396Autosomal recessive spastic paraplegia type 45
- ORPHA:320391Autosomal recessive spastic paraplegia type 46
- ORPHA:319199Autosomal recessive spastic paraplegia type 53
- ORPHA:320380Autosomal recessive spastic paraplegia type 54
- ORPHA:320411Autosomal recessive spastic paraplegia type 56
- ORPHA:401810Autosomal recessive spastic paraplegia type 64
- ORPHA:459056Autosomal recessive spastic paraplegia type 75
- ORPHA:447760Autosomal recessive spastic paraplegia type 9B
- ORPHA:209951Autosomal spastic paraplegia type 18
- ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:134Beta-ketothiolase deficiency
- ORPHA:118Beta-mannosidosis
- ORPHA:329284Beta-propeller protein-associated neurodegeneration
- ORPHA:1980Bilateral striopallidodentate calcinosis
- ORPHA:166108Birk-Barel syndrome
- ORPHA:123Björnstad syndrome
- ORPHA:125Bloom syndrome
- ORPHA:352649Brain dopamine-serotonin vesicular transport disease
- ORPHA:209905Brain-lung-thyroid syndrome
- ORPHA:497623C12ORF65-related combined oxidative phosphorylation defect
- ORPHA:505652CDKL5-deficiency disorder
- ORPHA:66631CEDNIK syndrome
- ORPHA:1451CINCA syndrome
- ORPHA:251383CK syndrome
- ORPHA:485350CLCN4-related X-linked intellectual disability syndrome
- ORPHA:610573CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
- ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy
- ORPHA:397725COASY protein-associated neurodegeneration
- ORPHA:263501COG4-CDG
- ORPHA:263487COG5-CDG
- ORPHA:95428COG8-CDG
- ORPHA:159Carnitine-acylcarnitine translocase deficiency
- ORPHA:1375Cataract-hypertrichosis-intellectual disability syndrome
- ORPHA:94122Cerebellar ataxia, Cayman type
- ORPHA:909Cerebrotendinous xanthomatosis
- ORPHA:90103Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- ORPHA:589824Childhood-onset Steinert myotonic dystrophy
- ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- ORPHA:77293Chronic visceral acid sphingomyelinase deficiency
- ORPHA:79239Classic galactosemia
- ORPHA:289504Combined malonic and methylmalonic acidemia
- ORPHA:444013Combined oxidative phosphorylation defect type 23
- ORPHA:477774Combined oxidative phosphorylation defect type 27
- ORPHA:565624Combined oxidative phosphorylation defect type 39
- ORPHA:71278Congenital brain dysgenesis due to glutamine synthetase deficiency
- ORPHA:300313Congenital cataract-hearing loss-severe developmental delay syndrome
- ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
- ORPHA:352333Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
- ORPHA:453510Congenital insensitivity to pain with severe intellectual disability
- ORPHA:370959Congenital muscular dystrophy with cerebellar involvement
- ORPHA:370968Congenital muscular dystrophy with intellectual disability
- ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:662184Congenital muscular dystrophy-cataract-intellectual disability syndrome
- ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:589821Congenital-onset Steinert myotonic dystrophy
- ORPHA:300536DDOST-CDG
- ORPHA:86309DPAGT1-CDG
- ORPHA:79322DPM1-CDG
- ORPHA:263494DPM3-CDG
- ORPHA:34587Danon disease
- ORPHA:660017Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
- ORPHA:652487Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
- ORPHA:717795Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome
- ORPHA:124Diamond-Blackfan anemia
- ORPHA:66634Dilated cardiomyopathy with ataxia
- ORPHA:293939Distal Xq28 microduplication syndrome
- ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiency
- ORPHA:33069Dravet syndrome
- ORPHA:98896Duchenne muscular dystrophy
- ORPHA:1766Dysequilibrium syndrome
- ORPHA:589618Dystonia 28
- ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome
- ORPHA:199343EAST syndrome
- ORPHA:695783EDEM3-CDG
- ORPHA:1934Early infantile developmental and epileptic encephalopathy
- ORPHA:98890Early-onset X-linked optic atrophy
- ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ORPHA:99704Early-onset obesity-hyperphagia-severe developmental delay syndrome
- ORPHA:2379Early-onset parkinsonism-intellectual disability syndrome
- ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- ORPHA:3240Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
- ORPHA:664511Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
- ORPHA:261Emery-Dreifuss muscular dystrophy
- ORPHA:527276Encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:833Encephalopathy due to sulfite oxidase deficiency
- ORPHA:1942Epilepsy with myoclonic-atonic seizures
- ORPHA:51188Ethylmalonic encephalopathy
- ORPHA:561854FOXG1 syndrome
- ORPHA:100973FRAXE intellectual disability
- ORPHA:100974FRAXF syndrome
- ORPHA:88619Familial acute necrotizing encephalopathy
- ORPHA:238722Familial congenital mirror movements
- ORPHA:361Familial glucocorticoid deficiency
- ORPHA:95716Familial thyroid dyshormonogenesis
- ORPHA:333Farber disease
- ORPHA:1561Fatal infantile cytochrome C oxidase deficiency
- ORPHA:168566Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- ORPHA:438178Fatty acyl-CoA reductase 1 deficiency
- ORPHA:834Free sialic acid storage disease
- ORPHA:349Fucosidosis
- ORPHA:354GM1 gangliosidosis
- ORPHA:370933GM3 synthase deficiency
- ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:592564GNAO1-related developmental delay-seizures-movement disorder spectrum
- ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndrome
- ORPHA:589547GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ORPHA:643Giant axonal neuropathy
- ORPHA:714399Global developmental delay-dental enamel defects-ataxia syndrome
- ORPHA:714385Global developmental delay-high pain tolerance-intellectual disability syndrome
- ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- ORPHA:32Glutathione synthetase deficiency
- ORPHA:407Glycine encephalopathy
- ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ORPHA:381Griscelli syndrome
- ORPHA:73273Growth delay due to insulin-like growth factor I resistance
- ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
- ORPHA:382Guanidinoacetate methyltransferase deficiency
- ORPHA:391417HSD10 disease
- ORPHA:643549Hao-Fountain syndrome
- ORPHA:2116Hartnup disease
- ORPHA:1867Hereditary bullous dystrophy, macular type
- ORPHA:168577Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:90045Hereditary folate malabsorption
- ORPHA:3197Hereditary hyperekplexia
- ORPHA:30Hereditary orotic aciduria
… and 228 more in the JSON record.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/611314
- This record as JSON: /data/d/611314.json