100800.6

Country

Saudi Arabia

HPO Terms

Short stature; Macrocephaly
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Sex

Female

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000142.5:c.1138G>A1NA

Remarks

De novo mutation

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
100800.3Saudi ArabiaGlobal developmental delay; Short statureMaleNoYesde novo mutation
100800.4Saudi ArabiaDelayed speech and language development; Short stature; Relative macrocephalyMaleYesDe novo mutation
100800.5Saudi ArabiaShort stature; Frontal bossing; Trigonocephaly; Rhizomelia; Osteopenia; KyphosisMaleNoDe novo mutation
100800.7Saudi ArabiaDepressed nasal bridge; Relative macrocephaly; Frontal bossing; Midface retrusionFemaleMutation is de novo. Patient's parents are from the same tribe.
100800.8Saudi ArabiaMacrocephaly; Short stature; Global developmental delay; Midface retrusionFemaleYesDe novo mutation
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