615085.1.1

Country

Iraq

HPO Terms

Macrocephaly; Anemia; Leukopenia; Splenomegaly; Hypoplasia of the corpus callosum; Extra-axial cerebrospinal fluid accumulation; Brain atrophy; Uncontrolled eye movements; Strabismus; Proptosis; Gait disturbance; Wide anterior fontanel; Prominent forehead; Increased density of long bones; Short femoral neck; Metaphyseal dysplasia

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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_001199835.1:c.46C>T	2	NA	Osteopetrosis, Autosomal Recessive 8

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Remarks

Proband. Cousin with similar features in addition to blindness and deafness.

References

Mégarbané A et al. 2013 Jan

Related Subjects

Subject Id	Country	Sex	Family History	Parental Consanguinity	Remarks
615085.1.2	Iraq	Male	Yes	Yes	Father of 615085.1.1
615085.1.3	Iraq	Female	Yes	Yes	Mother of 615085.1.1
615085.1.4	Iraq	Female	Yes	Yes	Sister of 615085.1.1