Neurology / Neuropediatrics

• Inborn errors of metabolism (WES based NGS panel of 834 genes, including CNV analysis) + info
   
• Infantile epileptic encephalopathy 13 (EIEE13) (sequence analysis of SCN8A gene) + info
   
• Infantile hypotonia with psychomotor retardation and characteristic facies 2 (sequence analysis of UNC80 gene) + info
   
• Inherited congenital spastic tetraplegia (sequence analysis of KANK1 gene) + info
   
• Intellectual deficit, X-linked, Raymond type (sequence analysis of ZDHHC9 gene) + info
   
• Intellectual development disorder, autosomal recessive 65 (deletion / duplication analysis on KDM5B gene) + info
   
• Intellectual developmental disorder autosomal recessive 69 (sequence analysis of ZBTB11 gene) + info
   
• Intellectual developmental disorder with cardiac arrhythmia | Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (deleciones/duplicaciones en el gen GNB5) + info
   
• Intellectual developmental disorder with cardiac defects and dysmorphic facies (deletion/duplication analysis of TMEM94 gene) + info
   
• Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (sequence analysis of OTUD6B gene) + info
   
• Intellectual developmental disorder with neuropsychiatric features (sequence analysis of SLC45A1 gene) + info
   
• Intermittent acute porphyrias (sequence analysis of HMBS gene) + info
   
• Intrinsic factor deficiency (sequence analysis of GIF gene) + info