615071.3.1

Country

Algeria

HPO Terms

Intellectual disability, severe; Severe postnatal growth retardation; Mild microcephaly; Anxiety; Autistic behavior; Lower limb spasticity; Hyperactive deep tendon reflexes; Abnormal facial shape; Cutis marmorata; Bilateral tonic-clonic seizure

Back to search Result

Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016648.4:c.503_504dup	2		Alazami Syndrome

Download Table

References

Imbert-Bouteille et al. 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615071.3.2	Algeria	Intellectual disability, severe; Severe postnatal growth retardation; Mild microcephaly; Anxiety; Autistic behavior; Lower limb spasticity; Hyperactive deep tendon reflexes; Abnormal facial shape; Cutis marmorata	Female	Yes	Yes	Sibling of 615071.3.1