Additional Disease Briefs

developmental and epileptic encephalopathy, 90

Also known as: DEE90, developmental and epileptic encephalopathy 90, developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant

developmental and speech delay due to SOX5 deficiency

developmental delay and seizures with or without movement abnormalities

Also known as: DEDSM, developmental delay and seizures with or without movement abnormalities

developmental delay with autism spectrum disorder and gait instability

Also known as: MRT38, developmental delay with ASD and gait instability, intellectual developmental disorder, autosomal recessive 38, intellectual disability, autosomal recessive 38, intellectual disability, autosomal recessive type 38, mental retardation, autosomal recessive 38, mental retardation, autosomal recessive type 38

Developmental delay with variable intellectual disability and dysmorphic facies

Also known as: DIDDF

developmental delay with variable intellectual disability and dysmorphic facies

Also known as: DIDDF

developmental delay with variable intellectual impairment and behavioral abnormalities

Also known as: TCF20-related disorder, TCF20-related syndrome, DDVIBA

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Also known as: Impaired intellectual development and distinctive facial features with or without cardiac defects, MED13L Syndrome, MED13L Haploinsufficiency Syndrome, MED13L-Related Intellectual Disability, Asadollahi-Rauch syndrome, MED13L-related syndrome, MED13L-related intellectual disability, MRFACD syndrome

developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation