216550.5.2

Country

Lebanon

HPO Terms

Intellectual disability; Microcephaly; Cutis gyrata of scalp; Prominent supraorbital ridges; Rod-cone dystrophy; Cataract; Sensorineural hearing impairment; Kyphoscoliosis; Prominent nose; Hypertelorism

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Sex

Male

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017890.4:c.9406-1G>T	2		Cohen Syndrome

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Remarks

Brother of 216550.5.1

References

Mégarbané et al. 2001;
Mégarbané et al, 2009

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
216550.5.1	Lebanon	Intellectual disability; Microcephaly; Cutis gyrata of scalp; Prominent supraorbital ridges; Rod-cone dystrophy; Cataract; Sensorineural hearing impairment; Kyphoscoliosis; Prominent nose; Hypertelorism	Male	Yes	No
216550.5.3	Lebanon		Female	Yes	No	Unaffected mother of 216550.5.1
216550.5.4	Lebanon		Female	Yes	No	Unaffected sister of 216550.5.1