Also known as: Birk-Flusser syndrome, CCAFCA, corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia, corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia
Also known as: GAND syndrome, GATAD2B-associated neurodevelopmental disorder, MRD18, autosomal dominant intellectual disability 18, autosomal dominant mental retardation 18, autosomal dominant non-syndromic intellectual disability 18, intellectual disability, autosomal dominant 18, intellectual disability, autosomal dominant type 18, mental retardation, autosomal dominant 18, mental retardation, autosomal dominant type 18, severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Also known as: MRT39, intellectual disability, autosomal recessive 39, intellectual disability, autosomal recessive type 39, mental retardation, autosomal recessive 39, mental retardation, autosomal recessive type 39
Also known as: BD syndrome, intellectual disability - athetosis - microphthalmia, intellectual disability-athetosis-microphthalmia syndrome, severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
Also known as: 5q31.3 microdeletion syndrome, Del(5)(q31.3), monosomy 5q31.3
Also known as: encephalopathy, neonatal severe, X-linked recessive, encephalopathy, neonatal severe, due to MECP2 mutations, severe congenital encephalopathy due to MECP2 mutation, severe neonatal encephalopathy due to MECP2 mutations
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