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Diseases
Genes (2874)
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GRIN2B
Epileptic Encephalopathy, Early Infantile, 27
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Intellectual Disability
CDKL5
Epileptic Encephalopathy, Early Infantile, 27
Intellectual Disability
Angelman Syndrome
MECP2
Epileptic Encephalopathy, Early Infantile, 27
Intellectual Disability
Angelman Syndrome
Torticollis
IDS
Mucopolysaccharidosis, Type Ii
Intellectual Disability
SLC46A1
Hereditary Folate Malabsorption
Intellectual Disability
Folate Deficiency
UBE3A
Intellectual Disability
Angelman Syndrome
BCL11A
Intellectual Disability
Bcl11a-Related Intellectual Disability
ADNP
Intellectual Disability
Adnp-Related Intellectual Disability And Autism Spectrum Disorder
TCOF1
Epileptic Encephalopathy, Early Infantile, 27
Intellectual Disability
Treacher Collins Syndrome
ST3GAL3
Epileptic Encephalopathy, Early Infantile, 27
Intellectual Disability
SMS
Intellectual Disability
Snyder-Robinson Syndrome
SPTLC1
Hereditary Sensory And Autonomic Neuropathy Type I
FMR1
Mucopolysaccharidosis, Type Ii
Intellectual Disability
Angelman Syndrome
Primary Ovarian Insufficiency
PHACTR1
Epileptic Encephalopathy, Early Infantile, 27
Intellectual Disability
ARX
Epileptic Encephalopathy, Early Infantile, 27
Intellectual Disability
TBCD
Epileptic Encephalopathy, Early Infantile, 27
Intellectual Disability
TSC2
Epileptic Encephalopathy, Early Infantile, 27
Intellectual Disability
Pancreatic Neuroendocrine Tumor
SSX1
Synovial Sarcoma
SSX2
Synovial Sarcoma
STXBP1
Epileptic Encephalopathy, Early Infantile, 27
Intellectual Disability