Phenotypes for disease #00211 (ENC (encephalopathy (ENC)))

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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20 entries on 1 page. Showing entries 1 - 20.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000059143	primary bladder PGL	-	-	Unknown	-	-	-	-	-	Jean-Pierre Bayley	00079420
0000143984	encephalopathy, reversible myelin vacuolization; see paper ...	-	MMERV	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00183254
0000143985	see paper; ..., encephalitis/encephalopathy, reversible splenial lesion	-	MMERV	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00183255
0000170751	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	-	-	Familial, autosomal recessive	-	-	00y00m	-	-	Thomas Foulonneau	00225648
0000175591	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	encephalopathy	-	Isolated (sporadic)	07y	-	-	-	-	Johan den Dunnen	00235329
0000175592	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	encephalopathy	-	Isolated (sporadic)	15y	-	-	-	-	Johan den Dunnen	00235330
0000175593	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	encephalopathy	-	Isolated (sporadic)	04y	-	-	-	-	Johan den Dunnen	00235331
0000175594	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	encephalopathy	-	Isolated (sporadic)	08y	-	-	-	-	Johan den Dunnen	00235332
0000180454	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	epilepsy	-	Familial, autosomal recessive	11y	-	-	-	-	Johan den Dunnen	00240389
0000180455	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	epilepsy	-	Familial, autosomal recessive	7m15d	-	-	-	-	Johan den Dunnen	00240390
0000180456	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	epilepsy	-	Familial, autosomal recessive	6y7m	-	-	-	-	Johan den Dunnen	00240391
0000180457	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	epilepsy	-	Familial, autosomal recessive	3y3m	-	-	-	-	Johan den Dunnen	00240392
0000292404	see paper; ..., herpes simplex encephalitis	herpes simplex encephalitis	-	Unknown	15y	-	-	-	-	Johan den Dunnen	00399287
0000292405	see paper; ..., herpes simplex encephalitis, EEG normal	herpes simplex encephalitis	-	Unknown	34y	-	-	-	-	Johan den Dunnen	00399288
0000292906	see paper; ...	mitochondrial encephalopathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00399866
0000292907	see paper; ...	mitochondrial encephalopathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00399867
0000292908	see paper; ...	mitochondrial encephalopathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00399868
0000292909	see paper; ...	mitochondrial encephalopathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00399869
0000292910	see paper; ...	mitochondrial encephalopathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00399870
0000292911	see paper; ...	mitochondrial encephalopathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00399871

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Global Variome shared LOVD