162200.21

Country

Saudi Arabia

HPO Terms

Multiple cafe-au-lait spots; Axillary freckling; Relative Macrocephaly; Failure to thrive

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001042492.3:c.6704+2T>G1NA

Remarks

De novo mutation; Patient's parents are from the same tribe.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
162200.11Saudi ArabiaNeurofibromasUnknown
162200.13Saudi ArabiaSpecific learning disability; Multiple cafe-au-lait spotsFemaleNoNode novo mutation
162200.15Saudi ArabiaSpecific learning disability; Attention deficit hyperactivity disorderMaleYesNoAffected father and siblings
162200.16Saudi ArabiaSpecific learning disability; Diminished ability to concentrate; Intellectual disabilityMaleNoYesde novo mutation
162200.17Saudi ArabiaSeizure; Global developmental delay; Hyperpigmentation of the skinMaleNoNode novo mutation
162200.18Saudi ArabiaMultiple cafe-au-lait spots; Myopia; Specific learning disabilityFemaleNoNoAffected father
162200.19Saudi ArabiaMultiple cafe-au-lait spots; Axillary frecklingMaleYesYesDe novo mutation
162200.22Saudi ArabiaMultiple cafe-au-lait spots; Axillary freckling; MacrocephalyMaleYesDe novo mutation
162200.24Saudi ArabiaGlobal developmental delay; Multiple cafe-au-lait spots; Axillary freckling; Optic nerve gliomaMaleNoDe novo mutation
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