226960.1.1

Country

Saudi Arabia

HPO Terms

Lissencephaly; Abnormality of neuronal migration; Sloping forehead; Cupped ear; Prominent nose; Hypertelorism; Downslanted palpebral fissures; Acromelia; Aplasia/Hypoplasia of the nails; Generalized hirsutism; Small hand; Short foot; Talipes equinovarus; Hip dislocation; Flat acetabular roof; Knee dislocation; Bowing of the long bones; Atlantoaxial dislocation; Metopic synostosis; Dry skin; Strabismus ; Spasticity

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NR_023343.1:n.55G>A	1		Lowry-Wood Syndrome
NR_023343.1:n.116A>T	1		Lowry-Wood Syndrome

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References

Shaheen et al. 2019