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Infantile hypotonia with psychomotor retardation and characteristic facies 2 (sequence analysis of UNC80 gene)
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Infertility (sequence analysis of ETV5 gene)
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Inflammatory bowel and skin disease, neonatal (sequencing of the ADAM17 gene)
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Inflammatory bowel disease 25, early onset, autosomal recessive (deletion/duplication analysis of IL10RB gene)
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Inherited congenital spastic tetraplegia (sequence analysis of KANK1 gene)
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Insomnia, fatal familial (sequence analysis of PRNP 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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Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (deletion/duplication analysis of PIGT gene)
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Interleukin 28B genotyping (g. 39738787C>T variant of IFNL3 gene)
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Interleukin-2 receptor deficiency, alpha chain (sequence analysis of IL2RA 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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IPEX syndrome (sequence analysis of FOXP3 gene)
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Irinotecan toxicity (TA insertion on UGT1A1 gene)
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Iron-refractory iron deficiency anemia (deletion/duplication analysis on TMPRSS6 gene)
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