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Term:
early infantile epileptic encephalopathy 36 (DOID:0080470)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
alpha thalassemia-X-linked intellectual disability syndrome  
amelogenesis imperfecta type 1E  
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
Christianson syndrome  
Coffin-Lowry syndrome  
congenital disorder of glycosylation type IIm  
Cornelia de Lange syndrome 2  
Cornelia de Lange syndrome 5  
craniofrontonasal syndrome  
Danon disease  
Dravet syndrome  
early infantile epileptic encephalopathy 1  
early infantile epileptic encephalopathy 11  
early infantile epileptic encephalopathy 12  
early infantile epileptic encephalopathy 13  
early infantile epileptic encephalopathy 14  
early infantile epileptic encephalopathy 15  
early infantile epileptic encephalopathy 16  
early infantile epileptic encephalopathy 17  
early infantile epileptic encephalopathy 18  
early infantile epileptic encephalopathy 19  
early infantile epileptic encephalopathy 2  
early infantile epileptic encephalopathy 21  
early infantile epileptic encephalopathy 23  
early infantile epileptic encephalopathy 24  
early infantile epileptic encephalopathy 25  
early infantile epileptic encephalopathy 26  
early infantile epileptic encephalopathy 27  
early infantile epileptic encephalopathy 28  
early infantile epileptic encephalopathy 29  
early infantile epileptic encephalopathy 3  
early infantile epileptic encephalopathy 30  
early infantile epileptic encephalopathy 31  
early infantile epileptic encephalopathy 32  
early infantile epileptic encephalopathy 33  
early infantile epileptic encephalopathy 34  
early infantile epileptic encephalopathy 35  
early infantile epileptic encephalopathy 36  
An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. (DO)
early infantile epileptic encephalopathy 37  
early infantile epileptic encephalopathy 38  
early infantile epileptic encephalopathy 39  
early infantile epileptic encephalopathy 4  
early infantile epileptic encephalopathy 40  
early infantile epileptic encephalopathy 41  
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early infantile epileptic encephalopathy 49  
early infantile epileptic encephalopathy 5  
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early infantile epileptic encephalopathy 7  
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Infantile Epileptic Encephalopathy, 64  
Early Infantile Epileptic Encephalopathy, 67  
Early Infantile Epileptic Encephalopathy, 68  
Early Infantile Epileptic Encephalopathy, 69  
Early Infantile Epileptic Encephalopathy, 70  
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Early Infantile Epileptic Encephalopathy, 75  
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Early Infantile Epileptic Encephalopathy, 79  
Early Infantile Epileptic Encephalopathy, 80  
focal dermal hypoplasia +   
fragile X syndrome +   
microcephaly, seizures, and developmental delay  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Nance-Horan syndrome  
neurodegeneration with brain iron accumulation 5  
Ogden syndrome  
orofaciodigital syndrome I  
X-linked Alport syndrome  
X-linked chondrodysplasia punctata 2  
X-linked dominant hypophosphatemic rickets  

Synonyms
Exact Synonyms: EIEE36
Narrow Synonyms: CDG Is ;   CDG1S ;   CDGIs ;   CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is
Primary IDs: OMIM:300884
Alternate IDs: RDO:9000249
Xrefs: GARD:12401 ;   ORDO:324422
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23033978, https://www.ncbi.nlm.nih.gov/pubmed/26138355

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.