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Phenotypes for disease #00067 (DEE2 (encephalopathy, developmental and epileptic, type 2), OMIM:300672)
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
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
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
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
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Protein
: result from protein staining
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Date
2020
all entries matching the year 2020
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Date
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Date
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Date
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Date
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Numeric
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all entries exactly matching 23 or 24
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Numeric
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all entries containing 'South Asian', but not containing 'South East Asian'
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56 entries on 1 page. Showing entries 1 - 56.
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How to query
Phenotype ID
Diagnosis/Initial
Inheritance
Age/Examination
Diagnosis/Definite
Age/Diagnosis
Age/Onset
Phenotype/Onset
Phenotype details
Protein
Owner
Individual ID
0000060632
-
Isolated (sporadic)
-
-
-
-
-
Epileptic encephalopathy, early infantile, 2 (OMIM:300672)
-
Daniel Trujillano
00081063
0000060654
-
Isolated (sporadic)
-
-
-
-
-
Epileptic encephalopathy, early infantile, 2 (OMIM:300672)
-
Daniel Trujillano
00081085
0000090361
-
Unknown
-
-
-
-
-
severe mental retardation, microcephaly, diffuse hypotonia, hyperreflexia, no language, numerous refractory seizures, stereotypical movement hands; 5y-precocious puberty; EIEE2
-
Emmelien Aten
00114904
0000090363
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114906
0000090364
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114908
0000090366
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114880
0000090367
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114888
0000090368
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114897
0000090369
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114900
0000090370
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114901
0000090371
-
Unknown
-
-
-
-
-
EIEE2
-
Emmelien Aten
00114902
0000090372
-
Unknown
-
-
-
-
-
EIEE2
-
Emmelien Aten
00114903
0000090373
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114907
0000090374
-
Unknown
-
-
-
-
-
infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2
-
Emmelien Aten
00114909
0000090375
-
Unknown
-
-
-
-
-
infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2
-
Emmelien Aten
00114910
0000090376
-
Unknown
-
-
-
-
-
Rett syndrome (variant), infantile seizures, acquired microcephaly, hand apraxia, generalized hypotonia, stereotypic hand motions; EIEE2
-
Emmelien Aten
00114911
0000090377
-
Unknown
-
-
-
-
-
Rett syndrome, variant, infantile spasms; EIEE2
-
Emmelien Aten
00114912
0000090378
-
Unknown
-
-
-
-
-
refractory epilepsy; encephalopathy
-
Emmelien Aten
00114913
0000090382
-
Unknown
-
-
-
-
-
EIEE2
-
Emmelien Aten
00114918
0000090383
-
Unknown
-
-
-
-
-
8m-psychomotor regression, coincided with onset seizures; loss of speech, ataxia, progression of refractory seizures; EIEE2
-
Emmelien Aten
00114916
0000090385
-
Unknown
-
-
-
-
-
encephalopathy
-
Emmelien Aten
00114926
0000090389
-
Unknown
-
-
-
-
-
2m-onset seizures; mild dysmorphic features incl. high sloping forehead, hypotelorism, epicanthus, broad nasal bridge, high palate, large anteverted ears; profound mental retardation, refractory epilepsy; EIEE2
-
Emmelien Aten
00114925
0000090390
-
Unknown
-
-
-
-
-
refractory epilepsy; encephalopathy
-
Emmelien Aten
00114930
0000090391
-
Unknown
-
-
-
-
-
early epilepsy; encephalopathy
-
Emmelien Aten
00114931
0000090394
-
Unknown
-
-
-
-
-
refractory epilepsy; encephalopathy
-
Emmelien Aten
00114935
0000090396
-
Unknown
-
-
-
-
-
early epilepsy; encephalopathy
-
Emmelien Aten
00114937
0000090397
-
Unknown
-
-
-
-
-
early epilepsy; EIEE2
-
Emmelien Aten
00114939
0000090398
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114941
0000090399
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114932
0000090400
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114942
0000090402
-
Unknown
-
-
-
-
-
encephalopathy
-
Emmelien Aten
00114944
0000090403
-
Unknown
-
-
-
-
-
early epilepsy; encephalopathy
-
Emmelien Aten
00114945
0000090410
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114938
0000090413
-
Unknown
-
-
-
-
-
early epilepsy; encephalopathy
-
Emmelien Aten
00114955
0000090415
-
Unknown
-
-
-
-
-
refractory epilepsy; encephalopathy
-
Emmelien Aten
00114958
0000090416
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114959
0000090420
-
Unknown
-
-
-
-
-
early epilepsy; encephalopathy
-
Emmelien Aten
00114963
0000090421
-
Unknown
-
-
-
-
-
Rett syndrome, atypical; EIEE2
-
Emmelien Aten
00114947
0000090422
-
Unknown
-
-
-
-
-
early epilepsy; encephalopathy
-
Emmelien Aten
00114964
0000090423
-
Unknown
-
-
-
-
-
early epilepsy; encephalopathy
-
Emmelien Aten
00114966
0000090425
-
Unknown
-
-
-
-
-
early epilepsy; encephalopathy
-
Emmelien Aten
00114968
0000090428
-
Unknown
-
-
-
-
-
early epilepsy; encephalopathy
-
Emmelien Aten
00114972
0000090430
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114957
0000090432
-
Unknown
-
-
-
-
-
EIEE2
-
Emmelien Aten
00114884
0000090434
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114886
0000090435
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114965
0000090436
-
Unknown
-
-
-
-
-
epilepsy; EIEE2
-
Emmelien Aten
00114893
0000090449
-
Unknown
-
-
-
-
-
Epiletic encephalopathy, Infantile Spasms; CDKL5 related encephalopathy
-
Erica Ermel
00114940
0000235210
Epileptic spasms
Unknown
00y02m
-
-
00y02m
Epileptic spasms
-
-
Andrea Soltysova
00309892
0000235211
Epileptic spasms
Isolated (sporadic)
-
CDKL5 disorder
01y
00y02m
Epileptic spasms
-
-
Andrea Soltysova
00309893
0000235212
Generalised motoric mainly tonic-clonic and myoclonic seizures
Isolated (sporadic)
00y00m14d
CDKL5 disorder
01y
00y00m14d
Epileptic spasms
-
-
Andrea Soltysova
00309894
0000235213
West syndrome
Isolated (sporadic)
00y03m
CDKL5 disorder
01y
00y03m
Epileptic spasms
-
-
Andrea Soltysova
00309895
0000235214
West syndrome
Isolated (sporadic)
00y02m
CDKL5 disorder
01y
00y02m
Epileptic spasms
-
-
Andrea Soltysova
00309896
0000235215
West syndrome
Isolated (sporadic)
00y08m
CDKL5 disorder
01y
00y08m
Epileptic spasms
-
-
Andrea Soltysova
00309897
0000238102
Epileptic encephalopathy
Isolated (sporadic)
24y
CDKL5-related atypical Rett syndrome
25y
00y02m
HP:0001250(Seizure)
HP:0011344(Severe global developmental delay) HP:0010864 (Intellectual disability, severe) HP:0000252 (Microcephaly) HP:0000733 (Stereotypy) HP:0001251 (Ataxia) HP:0002883 (Hyperventilation) HP:0000490 (Deep set eyes) HP:0000426 (Prominent nasal bridge) HP:0000154 (Wide mouth) HP:0012471 (Thick vermilion border) HP:0000347 (Micrognathia) HP:0000687 (Widely spaced teeth)
-
Giuseppe Marangi
00313780
0000295760
-
Isolated (sporadic)
16y
-
-
-
-
Seizure, Intellectual disability, Scoliosis, Neurodevelopmental abnormality
-
Andreas Laner
00403013
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