273750.G.4

Country

Algeria

HPO Terms

Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology
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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_014780.5:c.4451_4452del

Remarks

Unknown number of patients from a family

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
273750.G.1 Algeria Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology Unknown Yes Unknown number of patients from four families
273750.G.2 Algeria Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology Unknown Yes Unknown number of patients from a family
273750.G.3 Algeria Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology Unknown Yes Unknown number of patients from a family
273750.G.5 Algeria Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology Unknown Yes Unknown number of patients from a family
273750.G.6 Algeria Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology Unknown No Unknown number of patients from a family
273750.G.7 Algeria Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology Unknown Yes Unknown number of patients from a family
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