Disease #00211 (ENC (encephalopathy (ENC)))

Official abbreviation ENC
Name encephalopathy (ENC)
OMIM ID -
Inheritance -
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 0 genes -
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12 entries on 1 page. Showing entries 1 - 12.
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00079420 - PubMed: Ma 11 years old - - China - - 0 - - ENC primary bladder PGL SDHA SDHA 2 1 Jean-Pierre Bayley
00183254 29265453-FamA PubMed: Kurahashi 2018 4-generation family, 6 affected (5F, M) F;M no Japan - - 0 - - ENC encephalopathy, reversible myelin vacuolization; see paper ... C11orf9 C11orf9 1 6 Johan den Dunnen
00183255 29265453-FamB PubMed: Kurahashi 2018 2-generation family, 3 affected (3F), unaffected carrier mother F - Japan - - 0 - - ENC see paper; ..., encephalitis/encephalopathy, reversible splenial lesion C11orf9 C11orf9 1 3 Johan den Dunnen
00225648 Patient 3 PubMed: Metodiev 2014 2 affected M yes Algeria - 00y02m? 0 - - ENC Central apnoea (HP:0000961); Cyanosis (HP:0002871); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Metabolic acidosis (HP:0001942); Hyperglycemia (HP:0003074); Coma (HP:0001259); Bilateral oedema of optic disks ACO2 ACO2 1 1 Thomas Foulonneau
00235329 Pat1 PubMed: Helbig 2019, Journal: Helbig 2019 - F no - Europe - 0 - - ENC see paper; …, global developmental delay; 1y9m-onset seizures, atypical absence, myoclonic atonic, absence with eyelid myoclonia, drug-responsive; moderate intellectual disability; no autism spectrum disorder; truncal and gait ataxia; hypotonia; MRI parieto-occipital white matter abnormalities; EEG generalized polyspike-wave discharges AP2M1 AP2M1 1 1 Johan den Dunnen
00235330 Pat2 PubMed: Helbig 2019, Journal: Helbig 2019 - F no - Europe - 0 - - ENC see paper; …, global developmental delay; 1y3m-onset seizures, atonic, atypical absence, absence with eyelid myoclonia, drug-resistant; moderate intellectual disability; no autism spectrum disorder, aggressive and self-harming behavior; absent ataxia; hypotonia; MRI normal; EEG 3–4 Hz generalized spike-wave discharges AP2M1 AP2M1 1 1 Johan den Dunnen
00235331 Pat3 PubMed: Helbig 2019, Journal: Helbig 2019 - F no Mexico - - 0 - - ENC see paper; …, global developmental delay; 3y-onset seizures, atonic, bilateral tonic-clonic, drug-resistant; severe intellectual disability; autism spectrum disorder; gait ataxia only; hypotonia; chorea and myoclonus; prominent maxilla, thin upper lip; MRI normal; EEG generalized spike-wave discharges AP2M1 AP2M1 1 1 Johan den Dunnen
00235332 Pat4 PubMed: Helbig 2019, Journal: Helbig 2019 - F no Germany;United Kingdom (Great Britain) jewish - 0 - - ENC see paper; …, global developmental delay; 4y-onset seizures, focal impaired-awareness seizures, partially drug-responsive; severe intellectual disability; autism spectrum disorder; truncal and gait ataxia; hypotonia; tremor; long, thin hands and feet; MRI normal; EEG multifocal epileptiform activity AP2M1 AP2M1 1 1 Johan den Dunnen
00240389 FamAPatIII3 PubMed: Fichtman 2019, Journal: Fichtman 2019 3-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives F yes Palestine - - 0 - - ENC developmental delay; developmental regression; febrile-induced regression 21m; epilepsy; progressive microcephaly; no hypotonia; appendicular spasticity; ataxia; no myoclonic jerks; cerebellar atrophy; basal ganglia involvement; hyponatremia upon acute presentation NUP214 FARP2, NUP214 2 2 Johan den Dunnen
00240390 FamAPatIII12 PubMed: Fichtman 2019, Journal: Fichtman 2019 PatIII12 F yes Palestine - - 0 - - ENC developmental delay; developmental regression; febrile-induced regression 5m15d; no epilepsy; progressive microcephaly; hypotonia; myoclonic jerks; cerebellar atrophy; no basal ganglia involvement; hyponatremia upon acute presentation NUP214 FARP2, NUP214 2 1 Johan den Dunnen
00240391 FamBPatII1 PubMed: Fichtman 2019, Journal: Fichtman 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no - Europe, north (non-Finland) - 0 - - ENC developmental delay; developmental regression; febrile-induced regression 15m; epilepsy; progressive microcephaly; hypotonia; ataxia; myoclonic jerks; cerebellar atrophy; no basal ganglia involvement; hyponatremia upon acute presentation NUP214 NUP214 2 2 Johan den Dunnen
00240392 FamBPatII2 PubMed: Fichtman 2019, Journal: Fichtman 2019 sister PatII2 F no - Europe, north (non-Finland) - 0 - - ENC developmental delay; developmental regression; febrile-induced regression 30m; epilepsy; progressive microcephaly; hypotonia; ataxia; myoclonic jerks; cerebellar atrophy; no basal ganglia involvement; hyponatremia upon acute presentation NUP214 NUP214 2 1 Johan den Dunnen
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