259600.2.2

Country

Egypt

HPO Terms

Intellectual disability, mild; Delayed speech and language development; Skeletal muscle atrophy; Shawl scrotum; Brachycephaly; Parietal bossing; Triangular face; Short philtrum; Long palpebral fissure; Prominence of the premaxilla; Exaggerated cupid's bow; Adducted thumb; Camptodactyly

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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_004530.6:c.538G>A	2		Multicentric Osteolysis, Nodulosis, and Arthropathy

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Remarks

Brother of 259600.2.1

References

Makrythanasis et al. 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
259600.2.1	Egypt	Intellectual disability, mild; Delayed speech and language development; Skeletal muscle atrophy; Shawl scrotum; Brachycephaly; Parietal bossing; Triangular face; Short philtrum; Long palpebral fissure; Prominence of the premaxilla; Exaggerated cupid's bow; Adducted thumb; Camptodactyly	Male	Yes	Yes