Additional Disease Briefs

developmental and epileptic encephalopathy, 9

Also known as: DEE9, EFMR, EIEE9, Juberg Hellman syndrome, Juberg-Hellman syndrome, PCDH19 early infantile epileptic encephalopathy, PCDH19-related FLE, PCDH19-related female-limited epilepsy, PCDH19-related infantile epileptic encephalopathy, developmental and epileptic encephalopathy 9, developmental and epileptic encephalopathy, 9, early infantile epileptic encephalopathy 9, early infantile epileptic encephalopathy caused by mutation in PCDH19, early infantile epileptic encephalopathy type 9, early infantile female-limited epilecptic encephalopathy, epilepsy and intellectual disability limited to females, epilepsy and mental retardation limited to females, epilepsy, female restricted, with intellectual disability, epilepsy, female restricted, with mental retardation, epilepsy, female-restricted, with intellectual disability, epilepsy, female-restricted, with mental retardation, epileptic encephalopathy, early infantile, 9, epileptic encephalopathy, early infantile, type 9, familial epilepsy and intellectual disability limited to females, familial epilepsy and mental retardation limited to females, female restricted epilepsy with intellectual deficit, female restricted epilepsy with intellectual disability, female restricted epilepsy with mental retardation

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-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

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

developmental delay, epilepsy, and neonatal diabetes 1

Also known as: DEND1

developmental delay, epilepsy, and neonatal diabetes 2

Also known as: DEND2