Phenotypes for disease #00067 (DEE2 (encephalopathy, developmental and epileptic, type 2), OMIM:300672)

56 entries on 1 page. Showing entries 1 - 56.
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AscendingPhenotype ID     

Diagnosis/Initial     

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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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