245000.1.2

Country

Jordan

HPO Terms

Premature loss of teeth; Palmoplantar hyperkeratosis; Hyperkeratosis with erythema; Pustule; Recurrent respiratory infections; Halitosis; White hair; Reduced visual acuity ; Photophobia; Hypoplasia of the fovea; Chorioretinal hypopigmentation

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001814.6:c.319-1G>A	2		Papillon-Lefevre Syndrome
NM_000372.5:c.816G>C	2		Oculocutaneous Albinism, Type IA

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Remarks

Brother of 245000.1.1

References

Hattab and Amin, 2005

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
245000.1.1	Jordan	Premature loss of teeth; Palmoplantar hyperkeratosis; Hyperkeratosis with erythema; Pustule; Recurrent respiratory infections; Halitosis; White hair; Reduced visual acuity ; Photophobia; Hypoplasia of the fovea; Chorioretinal hypopigmentation	Male	Yes	Yes	Proband
245000.1.3	Jordan	Premature loss of teeth; Palmoplantar hyperkeratosis; Hyperkeratosis with erythema;	Female	Yes	Yes	Sister of 245000.1.1