273750.G.6 - CAGS

273750.G.6

Country

Tunisia

HPO Terms

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

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Sex

Unknown

Parental Consanguinity

No

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014780.5:c.923T>G			Three M Syndrome 1
NM_014780.5:c.3624_3639del			Three M Syndrome 1

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Remarks

Unknown number of patients from a family

References

Huber et al. 2005

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
273750.G.1	Tunisia	Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology	Unknown		Yes	Unknown number of patients from four families
273750.G.2	Tunisia	Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology	Unknown		Yes	Unknown number of patients from a family
273750.G.3	Tunisia	Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology	Unknown		Yes	Unknown number of patients from a family
273750.G.4	Tunisia	Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology	Unknown		Yes	Unknown number of patients from a family
273750.G.5	Tunisia	Frontal bossing; Pointed chin; Anteverted nares; Thick vermilion border; Abnormal skeletal morphology	Unknown		Yes	Unknown number of patients from a family
273750.G.7	Tunisia	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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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.