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Term:
early infantile epileptic encephalopathy 8 (DOID:0080215)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
Achromatopsia Incomplete, X-Linked 
Agammaglobulinemia, X-Linked, Type 2  
Aicardi syndrome 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alzheimer's disease 16 
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Arthrogryposis, X-Linked, Type V 
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
Bornholm Eye Disease 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
cataract 40  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Choroideremia +   
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Palate with Ankyloglossia  
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty 
Congenital Alopecia X-Linked 
congenital disorder of glycosylation type IIm  
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Idiopathic Intestinal Pseudoobstruction  
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
Craniofacioskeletal Syndrome 
Deafness, High-Frequency Sensorineural, X-Linked 
deafness-intellectual disability, Martin-Probst type syndrome  
Dilated Cardiomyopathy 3A  
Dravet syndrome  
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An early infantile epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. (DO)
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Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
Erythropoietic Protoporphyria, X-Linked Dominant  
External Ophthalmoplegia and Myopia 
Fabry disease +   
favism  
Fetal Akinesia Syndrome, X-Linked 
glycogen storage disease VIII 
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
Hypertrichosis Congenital Generalized X-Linked 
Hypogammaglobulinemia, X-Linked  
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Idiopathic Short Stature, X-Linked  
Intracranial Berry Aneurysm 5 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Leigh Syndrome, X-Linked  
Linear Skin Defects with Multiple Congenital Anomalies 3  
Macular Dystrophy, X-Linked +   
major affective disorder 2 
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
MEND Syndrome  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephaly Microcornea Syndrome Seemanova Type 
microcephaly, seizures, and developmental delay  
Midline Defects, X-Linked 
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Multiple Pterygium Syndrome, X-Linked 
Myopathy, Reducing Body, X-Linked, Childhood-Onset  
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe  
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
NEMO Mutation with Immunodeficiency 
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neural Tube Defects X-Linked 
Nystagmus 5, Infantile Periodic Alternating 
Ogden syndrome  
Opitz GBBB Syndrome, Type I  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
ovarian dysgenesis 2  
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Phosphoglycerate Kinase 1 Deficiency  
Premature Ovarian Failure 2a  
Progressive Muscular Dystrophy, Pectorodorsal 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proud Syndrome  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
Selective Tooth Agenesis, X-Linked, 1  
Severe Congenital Neutropenia, X-Linked  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Spina Bifida, X-Linked 
split hand-foot malformation 2 
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondylometaphyseal Dysplasia, X-Linked 
Stiff-Person syndrome  
Surfactant Metabolism Dysfunction, Pulmonary, 4  
syndromic microphthalmia 1  
syndromic microphthalmia 13  
TARP syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
Thrombocytopenia 1  
Thrombocytosis, Familial X-Linked 
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Vasquez Hurst Sotos Syndrome 
Von Willebrand Disease, X-Linked Form 
Wells Jankovic Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
X-Linked Anemia without Thrombocytopenia 
X-linked cardiac valvular dysplasia  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked exudative vitreoretinopathy 2  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-linked hypoparathyroidism 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-linked panhypopituitarism  
X-linked recessive disease +   
X-linked reticulate pigmentary disorder  
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-Linked Thrombophilia, due to Factor IX Defect  
X-Linked Vesicoureteral Reflux 

Synonyms
Exact Synonyms: EIEE8 ;   Hyperekplexia and Epilepsy
Primary IDs: MESH:C564474
Alternate IDs: OMIM:300607 ;   RDO:0013422
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15215304, https://www.ncbi.nlm.nih.gov/pubmed/21633362

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