Neurology / Neuropediatrics
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Infantile epileptic encephalopathy 13 (EIEE13) (sequence analysis of SCN8A gene)
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Infantile hypotonia with psychomotor retardation and characteristic facies 2 (sequence analysis of UNC80 gene)
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Inherited congenital spastic tetraplegia (sequence analysis of KANK1 gene)
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Intellectual deficit, X-linked, Raymond type (sequence analysis of ZDHHC9 gene)
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Intellectual developmental disorder autosomal recessive 69 (sequence analysis of ZBTB11 gene)
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Intellectual developmental disorder with cardiac arrhythmia | Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (deleciones/duplicaciones en el gen GNB5)
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Intellectual developmental disorder with cardiac defects and dysmorphic facies (deletion/duplication analysis of TMEM94 gene)
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Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (sequence analysis of OTUD6B gene)
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Intellectual developmental disorder with neuropsychiatric features (sequence analysis of SLC45A1 gene)
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Intermittent acute porphyrias (sequence analysis of HMBS gene)
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Intrinsic factor deficiency (sequence analysis of GIF gene)
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