Disease #00067 (EIEE2 (encephalopathy, epileptic, early infantile, type 2 (EIEE2)), OMIM:300672)

Official abbreviation EIEE2
Name encephalopathy, epileptic, early infantile, type 2 (EIEE2)
OMIM ID 300672
Human Phenotype Ontology Project (HPO) HPO
Inheritance XLD
Individuals reported having this disease 61
Phenotype entries for this disease 55
Associated with 1 gene CDKL5
Associated tissues -
Disease features -
Remarks -


Individuals

61 entries on 1 page. Showing entries 1 - 61.
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00000239 - PubMed: Van der Aa 2011 Not Rett synd. - early-onset encephalopathy F - - - - 0 - - EIEE2 - FOXG1 FOXG1 1 1 RettBASE
00081063 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - EIEE2 Epileptic encephalopathy, early infantile, 2 (OMIM:300672) CDKL5 CDKL5 1 1 Daniel Trujillano
00081085 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - EIEE2 Epileptic encephalopathy, early infantile, 2 (OMIM:300672) CDKL5 CDKL5 1 1 Daniel Trujillano
00114880 19377264-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114884 19377267-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 EIEE2 CDKL5 CDKL5 1 8 Lucy Raymond
00114886 19377269-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114888 19377270-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114893 19377273-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 2 1 Lucy Raymond
00114897 19377276-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114900 19377277-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114901 19377278-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114902 19377279-Pat? PubMed: Tarpey 2009 unrelated girls F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114903 19377280-Pat? PubMed: Tarpey 2009 unrelated girls F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114904 19377281-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 severe mental retardation, microcephaly, diffuse hypotonia, hyperreflexia, no language, numerous refractory seizures, stereotypical movement hands; 5y-precocious puberty; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114906 19377283-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114907 19377284-Pat? PubMed: Tarpey 2009 family, affected twin girls and an affected brother M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114908 19377285-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114909 19377286-Pat? PubMed: Tarpey 2009 monozygotic twins F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114910 19377287-Pat? PubMed: Tarpey 2009 monozygotic twins F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114911 19377288-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 Rett syndrome (variant), infantile seizures, acquired microcephaly, hand apraxia, generalized hypotonia, stereotypic hand motions; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114912 19377289-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 Rett syndrome, variant, infantile spasms; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114913 19377290-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 refractory epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114916 19377293-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 8m-psychomotor regression, coincided with onset seizures; loss of speech, ataxia, progression of refractory seizures; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114918 19377295-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 EIEE2 CDKL5 CDKL5 3 3 Lucy Raymond
00114925 19377297-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 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 CDKL5 CDKL5 1 1 Lucy Raymond
00114926 19377298-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114930 19377302-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 refractory epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114931 19377303-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114932 19377304-Pat? PubMed: Tarpey 2009 family, affected twin girls and an affected brother F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114935 19377307-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 refractory epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114937 19377309-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114938 19377310-Pat? PubMed: Tarpey 2009 family, affected twin girls and an affected brother F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114939 19377311-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114940 - - hypotonia, development delay F - Brazil - - 0 - - EIEE2 Epiletic encephalopathy, Infantile Spasms; CDKL5 related encephalopathy CDKL5 CDKL5 1 1 Erica Ermel
00114941 19377312-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114942 19377313-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114944 19377315-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114945 19377316-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114947 19377318-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 Rett syndrome, atypical; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114950 19377321-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 - CDKL5 - 0 1 Lucy Raymond
00114951 19377322-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 - CDKL5 - 0 1 Lucy Raymond
00114952 19377323-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 - CDKL5 - 0 1 Lucy Raymond
00114953 19377324-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 - CDKL5 - 0 1 Lucy Raymond
00114954 19377325-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 - CDKL5 - 0 1 Lucy Raymond
00114955 19377326-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114957 19377328-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114958 19377329-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 refractory epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114959 19377330-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114963 19377334-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114964 19377335-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114965 19377336-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 CDKL5 CDKL5 1 1 Lucy Raymond
00114966 19377337-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114968 19377339-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00114972 19377343-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy CDKL5 CDKL5 1 1 Lucy Raymond
00309892 - - - F no Slovakia (Slovak Republic) - - - - - EIEE2 - CDKL5 CDKL5 1 1 Andrea Soltysova
00309893 - - - F no Slovakia (Slovak Republic) - - - - - EIEE2 - CDKL5 CDKL5 1 1 Andrea Soltysova
00309894 - - - F no Slovakia (Slovak Republic) - - - - - EIEE2 - CDKL5 CDKL5 1 1 Andrea Soltysova
00309895 - - - M no Slovakia (Slovak Republic) - - - - - EIEE2 - CDKL5 CDKL5 1 1 Andrea Soltysova
00309896 - - - M no Slovakia (Slovak Republic) - - - - - EIEE2 - CDKL5 CDKL5 1 1 Andrea Soltysova
00309897 - - - M no Slovakia (Slovak Republic) - - - - - EIEE2 - CDKL5 CDKL5 1 1 Andrea Soltysova
00313780 - - - F no Italy - - 0 - - EIEE2 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) ATRX, CDKL5, CNTNAP2, FOXG1, MECP2, MEF2C, NRXN1, SLC9A6, TCF4, UBE3A, ZEB2 CDKL5 1 1 Giuseppe Marangi
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