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Term:
congenital disorder of glycosylation type IIm (DOID:0070265)
Annotations: Rat: (18) Mouse: (18) Human: (18) Chinchilla: (18) Bonobo: (18) Dog: (18) Squirrel: (18) Pig: (18)
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 IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIm  
A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. (DO)
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
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  
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  
early infantile epileptic encephalopathy 42  
early infantile epileptic encephalopathy 43  
early infantile epileptic encephalopathy 44  
early infantile epileptic encephalopathy 45  
early infantile epileptic encephalopathy 46  
early infantile epileptic encephalopathy 47  
early infantile epileptic encephalopathy 48  
early infantile epileptic encephalopathy 49  
early infantile epileptic encephalopathy 5  
early infantile epileptic encephalopathy 50  
early infantile epileptic encephalopathy 51  
early infantile epileptic encephalopathy 52  
early infantile epileptic encephalopathy 53  
early infantile epileptic encephalopathy 54  
early infantile epileptic encephalopathy 55  
early infantile epileptic encephalopathy 56  
early infantile epileptic encephalopathy 57  
early infantile epileptic encephalopathy 58  
early infantile epileptic encephalopathy 59  
early infantile epileptic encephalopathy 60  
early infantile epileptic encephalopathy 61  
early infantile epileptic encephalopathy 62  
early infantile epileptic encephalopathy 63  
early infantile epileptic encephalopathy 65  
early infantile epileptic encephalopathy 66  
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  
Early Infantile Epileptic Encephalopathy, 71  
Early Infantile Epileptic Encephalopathy, 72  
Early Infantile Epileptic Encephalopathy, 73  
Early Infantile Epileptic Encephalopathy, 74  
Early Infantile Epileptic Encephalopathy, 75  
Early Infantile Epileptic Encephalopathy, 76  
Early Infantile Epileptic Encephalopathy, 77  
Early Infantile Epileptic Encephalopathy, 78  
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: CDG IIm ;   CDG syndrome type IIm ;   CDG2M ;   CDGIIm ;   EIEE22 ;   SLC35A2-CDG ;   congenital disorder of glycosylation type 2M ;   early infantile epileptic encephalopathy 22
Primary IDs: OMIM:300896
Alternate IDs: DOID:0080469 ;   RDO:9000860
Xrefs: GARD:12403 ;   ORDO:356961
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23561849

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