Disease #02142

Official abbreviation EIEE-9
Name encephalopathy, epileptic, early infantile, type 9 (EIEE-9)
OMIM ID 300088
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 42
Phenotype entries for this disease 8
Associated with 1 gene PCDH19
Associated tissues -
Disease features early infantile epileptic encephalopathy, also known as epilepsy and mental retardation restricted to females (EFMR)
Remarks -


Individuals

42 entries on 1 page. Showing entries 1 - 42.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00163939 27527380-Pat1 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163940 27527380-Pat2 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163941 27527380-Pat3 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163943 27527380-Pat4 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163944 27527380-Pat5 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163945 27527380-Pat6 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163946 27527380-Pat7 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163947 27527380-Pat8 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163948 27527380-Pat9 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163949 27527380-Pat10 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163950 27527380-Pat11 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163951 27527380-Pat12 PubMed: Liu 2017 - F - China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163952 27527380-Pat13 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163953 27527380-Pat14 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163954 27527380-Pat15 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163955 27527380-Pat16 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163956 27527380-Pat17 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163957 27527380-Pat18 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163958 27527380-Pat19 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163959 27527380-Pat20 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163960 27527380-Pat21 PubMed: Liu 2017 - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163961 patient 22 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163962 patient 23 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163963 patient 24 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163964 patient 25 - - M no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163965 patient 26 - - M no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163966 patient 27 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163967 patient 28 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163968 patient 29 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163969 patient 30 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163970 patient 31 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163971 patient 32 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163972 patient 33 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163973 patient 34 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163974 patient 35 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163975 patient 36 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163976 patient 37 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 2 1 Xiaoxu Yang
00163977 patient 38 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163978 patient 39 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163979 patient 40 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163980 patient 41 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
00163981 patient 42 - - F no China - - 0 - - EIEE-9 - PCDH19 PCDH19 1 1 Xiaoxu Yang
Legend