Phenotypes for disease #06906 (DEE (encephalopathy, developmental and epileptic))

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Diagnosis/Initial: initial diagnosis, before molecular testing

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

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

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

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

261 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000304359	developmental and epileptic encephalopathy	-	see paper; ..., no microcephaly; developmental delay; infantile spasms, did not respond to vigabatrin, corticosteroids or adrenocorticotrophic hormone; hypotonia; norml vision; no GI dysmotility/feeding problems; intrauterine growth restriction; MRI brain normal; Hypsarrhythmia	Isolated (sporadic)	00y10m	-	-	-	Johan den Dunnen	00412354
0000304361	developmental and epileptic encephalopathy	-	see paper; ..., intellectual disability; developmental delay; epilepsy	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00412356
0000304948	Ohtahara syndrome	DEE17	4d-tonic seizure; 4d-suppression-burst pattern; 5y-tonic seizure; EEG-1y4m-multifocal sharp waves, 5y6m-suppression-burst pattern; no involuntary movement; seizure control intractable (2-3 times per day); no head control; not sitting; no speech; MRI 1m-normal, 5y6m-cerebral atrophy	Isolated (sporadic)	13y	-	-	-	Johan den Dunnen	00412962
0000304949	Ohtahara syndrome	DEE17	29d-series of tonic seizures (tonic upgaze, head nodding, extension of all extremities); 29d-suppression-burst pattern; 9m-series of tonic seizures; EEG 3m-hypsarrhythmia, 1y7m-diffuse spike-and-slow-wave complex, 3y9m-sharp waves at frontal lobe; no involuntary movement; seizure control intractable (0-2 times per day); head control; not sitting; no speech; MRI 10m-delayed myelination, thin corpus callosum	Isolated (sporadic)	4y1m	-	-	-	Johan den Dunnen	00412963
0000304950	Ohtahara syndrome	DEE17	2w-series of tonic seizures (resemble spasms); 2w-suppression-burst pattern; 10m-tonic seizure; EEG 4m-hypsarrhythmia; dystonia; seizure control intractable; no head control; not sitting; no speech; MRI 3m-normal	Isolated (sporadic)	11m	-	-	-	Johan den Dunnen	00412964
0000304951	epileptic encephalopathy	DEE17	7m-opisthotonic posture, developmental delay; 5y-diffuse irregular spike-and-slow-wave complex; 5y-focal seizure (tonic upgaze), tonic seizure; severe chorea, athetosis; seizure control intractabl (several times per day); no head control; not sitting; no speech; MRI 1y3m-delayed myelination, 4y8m-reduced cerebral white matter, thin corpus callosum	Isolated (sporadic)	8y	-	-	-	Johan den Dunnen	00412965
0000305187	-	-	-	Isolated (sporadic)	-	05y	-	-	Ke Xu	00413206
0000305188	intractable epilepsy	DEE	-	Isolated (sporadic)	-	09y	-	-	Ke Xu	00413207
0000317213	developmental and epileptic encephalopathy	-	2m-onset seizures, generalized epilepsy, epileptic spasms, myoclonic seizures, subclinical seizures, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia, multifocal SW, poorly organized background; MRI brain markedly decreased cerebral volume, deficiency of white matter, small brainstem and corpus callosum	Isolated (sporadic)	2y	-	-	-	Johan den Dunnen	00426049
0000317214	developmental and epileptic encephalopathy	-	2m-onset seizures, combined epilepsy, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, significant irritability; EEG history hypsarrhythmia, multifocal SW, poorly organized background, excessive discontinuity; MRI brain 1y-normal	Isolated (sporadic)	2y	-	-	-	Johan den Dunnen	00426050
0000317215	developmental and epileptic encephalopathy	-	2m15d-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; ; ; profound hypotonia, cortical visual impairment	Isolated (sporadic)	3y	-	-	-	Johan den Dunnen	00426051
0000317216	developmental and epileptic encephalopathy	-	6m-onset seizures, epileptic spasms, focal epilepsy, refractory initially, now seizure free; severe developmental delay, GMFCS V, CFCS IV; profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia; MRI brain hypoplasia of corpus callosum and enlarged ventricles	Isolated (sporadic)	7y	-	-	-	Johan den Dunnen	00426052
0000317217	developmental and epileptic encephalopathy	-	2m-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus, pupils nonreactive; EEG history hypsarrhythmia, multifocal discharges; MRI brain 6m-normal	Isolated (sporadic)	2y	-	-	-	Johan den Dunnen	00426053
0000317218	developmental and epileptic encephalopathy	-	2m-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus, pupils nonreactive; EEG history hypsarrhythmia, multifocal discharges; MRI brain 6m-normal	Isolated (sporadic)	2y	-	-	-	Johan den Dunnen	00426054
0000317219	developmental and epileptic encephalopathy	-	2m-onset seizures, myoclonic seizures, refractory; profound developmental delay, GMFCS V, CFCS V; profound hypotonia with peripheral spasticity; ; MRI brain normal	Isolated (sporadic)	3y	-	-	-	Johan den Dunnen	00426055
0000317220	developmental and epileptic encephalopathy	-	32m-deceased; 3m-onset seizures, myoclonic seizures, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG asynchrony, electroclinical myoclonic seizures; MRI brain diffuse cerebral atrophy	Isolated (sporadic)	2y8m	-	-	-	Johan den Dunnen	00426056
0000317221	developmental and epileptic encephalopathy	-	6m-onset seizures, no clinical seizures; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus; EEG history hypsarrhythmia, mild background slowing, focal spikes and polyspikes; MRI brain abnormal diffusion restriction attributed to vigabatrin toxicity, delayed myelination, mild enlargement of ventricles, small corpus callosum	Isolated (sporadic)	3y	-	-	-	Johan den Dunnen	00426057
0000317222	developmental and epileptic encephalopathy	-	10m-deceased; 3m-onset seizures, epileptic spasms, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; hyperkinetic dystonic movement disorder, profound hypotonia, cortical visual impairment; ; EEG hypsarrhythmia	Isolated (sporadic)	10m	-	-	-	Johan den Dunnen	00426058
0000317223	developmental and epileptic encephalopathy	-	no seizures; mild developmental delay, GMFCS I, CFCS I, MACS II; mild hypotonia, behavioral problems; EEG moderate increase in beta frequencies; MRI brain 5y-normal	Isolated (sporadic)	5y	-	-	-	Johan den Dunnen	00426059
0000319212	developmental and epileptic encephalopathy	-	delayed speech and language development, Global developmental delay	Unknown	02y	-	-	-	Andreas Laner	00428280
0000324087	-	-	intellectual disability, speech delay, hyperactivity, EEG abnormality	Familial, autosomal dominant	-	-	-	-	Marketa Wayhelova	00433664
0000324088	-	-	mild intellectual disability, autism, speech delay, hyperactivity	Familial, autosomal dominant	-	-	-	-	Marketa Wayhelova	00433665
0000325560	developmental and epileptic encephalopathy	DEE35	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00435366
0000325561	developmental and epileptic encephalopathy	DEE35	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00435367
0000325562	developmental and epileptic encephalopathy	DEE35	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00435368
0000325563	developmental and epileptic encephalopathy	DEE35	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00435369
0000325564	developmental and epileptic encephalopathy	DEE35	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00435370
0000325565	developmental and epileptic encephalopathy	DEE35	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00435371
0000325566	developmental and epileptic encephalopathy	DEE35	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00435372
0000325567	developmental and epileptic encephalopathy	DEE35	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00435373
0000325568	developmental and epileptic encephalopathy	DEE35	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00435374
0000325823	developmental and epileptic encephalopathy	-	see paper, ..., 9y-deceased (pneumonia); 6m-mild anaemia, mildly increased platelets count, stable on yearly full blood count; osmotic fragility test; negative; 6m-/infantile spasms; spasms, myoclonic seizures, focal seizures with impaired awareness (daily); EEG 6m–8y slow background, bilateral independent discharges, epileptic spasms and myoclonic seizures; MRI brain 5m, 4y thin corpus callosum, colpocephaly, abnormal myelination, dysmorphic lateral ventricles, enlarged extracerebral spaces, progressive mild cerebellar atrophy, and watershed areas white matter abnormality; threatened preterm labor at 35w, global profound developmental delay, generalized hypotonia, plagiocephaly, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 17m), dyskinesias; mild anemia	Isolated (sporadic)	8y	-	-	-	Johan den Dunnen	00435639
0000325824	developmental and epileptic encephalopathy	-	see paper; ..., 1d-focal seizures; bilateral independent focal motor seizures with impaired awareness, focal to bilateral tonic-clonic (weekly); EEG 7−10y slow background, multifocal discharges, focal seizures recorded; MRI brain 6y, 10y thin corpus callosum, multifocal white matter abnormalities, ventricular asymmetry, progressive cerebellar atrophy; global profound developmental delay, ataxic gait, lower limb hypertonia, nystagmus; mild abnormalities of red blood cells, mean corpuscular hemoglobin, mean corpuscular volume	Isolated (sporadic)	10y	-	-	-	Johan den Dunnen	00435640
0000325825	developmental and epileptic encephalopathy	-	see paper; ..., 2m-focal motor seizures with asymmetric posturing; focal seizures with impaired awareness and asymmetric posturing, focal to bilateral tonic-clonic (weekly); EEG 15y slow background, focal epileptiform discharges; MRI brain 4y thin corpus callosum, posterior predominant multifocal white matter abnormalities, dysmorphic asymmetric lateral ventricles, enlarged cortical sulci; global profound developmental delay, spastic asymmetric quadriparesis, severe cortical visual impairment	Isolated (sporadic)	15y	-	-	-	Johan den Dunnen	00435641
0000325826	developmental and epileptic encephalopathy	-	see paper, ..., 12y6m-deceased (pneumonia); 4m-focal seizures; focal seizures with impaired awareness; 9 months on: spasms and focal to bilateral tonic-clonic (daily); 14m-single episode of status epilepticus; EEG 8m–10y slow background, bilateral independent or multifocal discharges, epileptic spasms recorded; MRI brain 5m, 7y thin corpus callosum, multifocal white matter abnormalities, dysmorphic enlarged lateral ventricles, mild cortical and cerebellar atrophy, progressive trabecular bone thickening; global profound developmental delay, wheelchair bound, cortical visual impairment, by 10y knee fixed flexion contractures, dysphagia (percutaneous endoscopic gastrostomy 5y); severe macrocytic anemia transfusion dependent	Isolated (sporadic)	12y	-	-	-	Johan den Dunnen	00435642
0000325827	developmental and epileptic encephalopathy	-	see paper; ..., 1d-jaundice; laryngomalacia (1y-supraglottoplasty) ; 2d-apnoeic seizures; 4m-epileptic spasms, 7y-focal hyperkinetic motor seizures with impaired awareness (seizure-free); EEG 7y slow background, bilateral independent or multifocal discharges, focal seizures recorded; MRI brain 1 week, 7m, 2y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive posteriorly predominant white matter abnormality, and cerebellar atrophy; global profound developmental delay, severe cortical visual impairment, nystagmus, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 2y); jaundice at birth	Isolated (sporadic)	8y	-	-	-	Johan den Dunnen	00435643
0000325828	developmental and epileptic encephalopathy	-	see paper; ..., 10d-apnoeic seizures; focal seizures onset with impaired awareness, focal to bilateral tonic-clonic, epileptic spasms (daily); EEG 2m–23m slow background, multifocal or generalized discharges with burst suppression, focal seizures recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, diffusely abnormal myelination; global profound developmental delay, quadriparesis with generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 16m); macrocytic anemia, transfusion dependent	Isolated (sporadic)	1y11m	-	-	-	Johan den Dunnen	00435644
0000325829	developmental and epileptic encephalopathy	-	see paper; ..., 12m scleralicterus; 1d-apnoeic seizures; 14d-stiffening episodes, 9m-epileptic spasms (seizure-free); EEG birth–20m normal background, then hypsarrhythmia, slow background, focal discharges; MRI brain 1 week, 5m, 11m thin corpus callosum, widespread white matter abnormalities, enlarged dysmorphic lateral ventricles, mild progressive cerebellar atrophy; global profound developmental delay, asymmetric quadriparesis, generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (no percutaneous endoscopic gastrostomy yet); scleralicterus	Isolated (sporadic)	1y8m	-	-	-	Johan den Dunnen	00435645
0000325830	developmental and epileptic encephalopathy	-	see paper; ..., 2y-severe anaemia, occasional transfusions, episode of haemolysis triggered by infection8y-BM showed myelodysplastic syndrome with aplastic anaemia, haematopoiesis, chronic haemolysi; 4m-infantile spasms; 1y-generalized tonic seizures, focal motor with impaired awareness (daily); EEG 4m–12y hypsarrhythmia, then slow background, multifocal epileptiform discharges; MRI brain 4m, 2y, 10y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive widespread white matter abnormality, ventricular dilatation, cerebellar atrophy, and trabecular bone thickening; global profound developmental delay, quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe anemia requiring occasional transfusions	Isolated (sporadic)	17y	-	-	-	Johan den Dunnen	00435646
0000325831	developmental and epileptic encephalopathy	-	see paper; ..., 2y-mild stable anaemia (no previous measurement available); retinal dystrophy; 2y6m-focal seizures; 3y-epileptic spasms in small clusters (weekly); EEG slow background, no epileptiform discharges in 4 EEG recordings; MRI brain 4m thin corpus callosum with absent splenium and delayed myelination, 6y 7m increased signal of white matter in watershed areas, generalized decrease of white matter volume; global profound developmental delay, wheelchair bound, quadriparesis, pseudobulbar signs, jerky involuntary movements, stereotypical movements and behavior, dysphagia (percutaneous endoscopic gastrostomy 3y), cortical visual impairment, nystagmus; mild anemia	Isolated (sporadic)	15y	-	-	-	Johan den Dunnen	00435647
0000325832	developmental and epileptic encephalopathy	-	see paper; ..., 14d-focal seizures; bilateral independent focal seizures, epileptic spasms (daily); EEG 2–9m slow background, hypsarrhythmia, multifocal discharges, focal seizures and epileptic spasms recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, abnormal myelination more pronounced posteriorly, Rathke cleft cyst; global profound developmental delay, quadriparesis, generalized hypotonia, cortical blindness with roving eye movements, dysphagia; mild macrocytic anemia	Isolated (sporadic)	3y	-	-	-	Johan den Dunnen	00435648
0000325833	developmental and epileptic encephalopathy	-	see paper; ..., 2y-focal seizures; occasional focal seizures with impaired awareness during fever; EEG 4–6y normal background, bilateral independent discharges; MRI brain 6y multifocal, posteriorly predominant white matter abnormality; global severe developmental delay, motor impairment, generalized hypotonia	Isolated (sporadic)	7y	-	-	-	Johan den Dunnen	00435649
0000325834	developmental and epileptic encephalopathy	-	see paper; ..., 7d-myoclonic jerks; 14m-intractable focal seizures; EEG 14m: normal background, generalized and focal discharges; MRI brain 14m mild prominence of ventricular system and extra-axial CSF spaces; global developmental delay, dysphagia	Isolated (sporadic)	1y11m	-	-	-	Johan den Dunnen	00435650
0000325835	developmental and epileptic encephalopathy	-	see paper; ...,f rom birth severe haemolytic anaemia with macrocytosis, thrombocytopenia, hepatosplenomegaly, transfusion dependent, hyperbilirubinemia, left vesicoureteral reflux (13y-surgical correction), chronic urinary retention; 6m-infantile spasms; tonic seizures daily; generalized tonic-clonic seizures (monthly); EEG 4m–16y hypsarrhythmia, then slow background, bilateral independent or multifocal discharges, epileptic spasms and tonic seizures recorded; MRI brain 7m, 2y, 4y, 8y thin corpus callosum, multifocal white matter abnormalities, asymmetric dysmorphic lateral ventricles, progressive trabecular bone thickening; global profound developmental delay, generalized hypotonia, microcephaly, visual impairment, nystagmus, squint, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe hemolytic anemia, transfusion dependent	Isolated (sporadic)	16y	-	-	-	Johan den Dunnen	00435651
0000325836	developmental and epileptic encephalopathy	-	see paper; ..., 10m-focal seizures; generalized tonic-clonic seizures occasional during fever; EEG 2y slow background, focal discharges; MRI brain 1 year 7m thin corpus callosum, widespread white matter abnormality, especially periventricular, asymmetric dysmorphic lateral ventricles, mild cerebellar atrophy; global profound developmental delay, spastic quadriparesis, axial hypotonia, upper limb dystonia, visual impairment, dysphagia (percutaneous endoscopic gastrostomy 3y)	Isolated (sporadic)	5y	-	-	-	Johan den Dunnen	00435652
0000325837	developmental and epileptic encephalopathy	-	see paper; ..., 3y-focal seizures; focal seizures with impaired awareness, generalized tonic-clonic seizures (yearly; EEG 15y slow background, focal discharges, focal seizures recorded; MRI brain 15y, 21y, 24y, 27y, 28y thin corpus callosum, widespread white matter abnormality, especially periventricular/posterior, progressive cerebellar atrophy, and trabecular bone thickening; global moderate developmental delay, cerebellar ataxia, tremor, dysarthria, limited mobility, bipolar disorder; mild hyperbilirubinemia	Isolated (sporadic)	30y	-	-	-	Johan den Dunnen	00435653
0000325838	developmental and epileptic encephalopathy	-	see paper; ..., 1d-mild jaundice, macrocytic anaemia, out-turned feet; 11m-focal seizures; focal seizures with posturing and impaired awareness, recurrent status epilepticus (yearly); EEG 17m–22y background mildly abnormal, diffuse beta activity, multifocal discharges, focal seizures recorded; MRI brain 1 year, 2y, 10y thin corpus callosum, multifocal white matter abnormality; global moderate developmental delay, spastic quadriparesis, autism spectrum disorder; macrocytic anemia	Isolated (sporadic)	25y	-	-	-	Johan den Dunnen	00435654
0000325839	developmental and epileptic encephalopathy	-	see paper; ..., 11m-focal seizures; focal seizures with eye deviation; jerking, generalized tonic-clonic seizures, recurrent status epilepticus (seizure-free) at last FU; EEG 5–17m normal background, focal discharges; MRI brain 1 year, 12y thin corpus callosum, abnormal myelination, colpocephaly, dysmorphic lateral ventricles, increased white matter signal with posterior/periventricular predominance; global, severe developmental delay, toe walking, autism spectrum disorder	Isolated (sporadic)	15y	-	-	-	Johan den Dunnen	00435655
0000328467	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438564
0000328468	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438565
0000328469	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438566
0000328470	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438567
0000328471	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438568
0000328472	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438569
0000328473	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438570
0000328474	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438571
0000328475	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438572
0000328476	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438573
0000328477	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438574
0000328478	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438575
0000328479	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438576
0000328480	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438577
0000328481	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438578
0000328482	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438579
0000328483	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438580
0000328484	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438581
0000328485	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438582
0000328486	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438583
0000328487	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438584
0000328488	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438585
0000328489	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438586
0000328490	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438587
0000328491	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438588
0000328492	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438589
0000328493	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438590
0000328494	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438591
0000328495	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438592
0000328496	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438593
0000328497	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438594
0000328498	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438595
0000328499	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438596
0000328500	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438597
0000328501	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438598
0000328502	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438599
0000328503	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438600
0000328504	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438601
0000328505	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438602
0000328506	developmental and epileptic encephalopathy	MRD56	see paper; ..., global developmental delay, moderate intellectual disability; 5m-seizure; EEG generalized spike-wave, poly-spike and wave; MRI brain delayed myelination, 20y-normal; neonatal hypotonia, scoliosis, intractable seizures until puberty, no seizures under LEV and LTG	Isolated (sporadic)	23y	-	-	-	Johan den Dunnen	00438603
0000328507	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438604
0000328508	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438605
0000328509	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438606
0000328510	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438607
0000328511	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438608
0000328512	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438609
0000328513	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438610
0000328514	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438611
0000328515	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438612
0000328516	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438613
0000328517	developmental and epileptic encephalopathy	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00438614
0000328518	developmental and epileptic encephalopathy	-	-	Unknown	-	-	-	-	Johan den Dunnen	00438615

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Global Variome shared LOVD

PDE3B (phosphodiesterase 3B, cGMP-inhibited)