162200.11

Country

Iraq

HPO Terms

Neurofibromas

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001042492.2:c.7380del1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
162200.13IraqSpecific learning disability; Multiple cafe-au-lait spotsFemaleNoNode novo mutation
162200.15IraqSpecific learning disability; Attention deficit hyperactivity disorderMaleYesNoAffected father and siblings
162200.16IraqSpecific learning disability; Diminished ability to concentrate; Intellectual disabilityMaleNoYesde novo mutation
162200.17IraqSeizure; Global developmental delay; Hyperpigmentation of the skinMaleNoNode novo mutation
162200.18IraqMultiple cafe-au-lait spots; Myopia; Specific learning disabilityFemaleNoNoAffected father
162200.19IraqMultiple cafe-au-lait spots; Axillary frecklingMaleYesYesDe novo mutation
162200.21IraqMultiple cafe-au-lait spots; Axillary freckling; Relative Macrocephaly; Failure to thriveFemaleDe novo mutation; Patient's parents are from the same tribe.
162200.22IraqMultiple cafe-au-lait spots; Axillary freckling; MacrocephalyMaleYesDe novo mutation
162200.24IraqGlobal developmental delay; Multiple cafe-au-lait spots; Axillary freckling; Optic nerve gliomaMaleNoDe novo mutation
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