617090.4.3

Country

Egypt

HPO Terms

Delayed gross motor development; Delayed social development; Brisk reflexes; Simplified gyral pattern; Thin corpus callosum; Short stature; Abnormal facial shape; Microcephaly; Intellectual disability, severe; Absent speech; Arthrogryposis multiplex congenita; Spastic tetraplegia; Autistic behavior

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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_001206999.2:c.376A>C	2	NA	Microcephaly 17, Primary, Autosomal Recessive

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Remarks

Cousin of 617090.4.1

References

Li et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617090.4.1	Egypt	Intellectual disability, moderate; Delayed gross motor development; Delayed fine motor development; Delayed speech and language development; Delayed social development; Hypertonia; Brisk reflexes; Short stature; Abnormal facial shape; Microcephaly	Female	Yes	Yes	Patient from 'family 1379' in the publication.
617090.4.2	Egypt	Intellectual disability, moderate; Delayed gross motor development; Delayed fine motor development; Delayed speech and language development; Delayed social development; Hypertonia; Brisk reflexes; Short stature; Abnormal facial shape; Microcephaly	Female	Yes	Yes	Sister of 617090.4.1