617090.3.1

Country

Egypt

HPO Terms

Intellectual disability, moderate; Delayed gross motor development; Delayed fine motor development; Delayed speech and language development; Delayed social development; Hypertonia; Brisk reflexes; Simplified gyral pattern; Thin corpus callosum; Short stature; Abnormal facial shape; Microcephaly

Back to search Result

Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001206999.2:c.317G>T	2	NA	Microcephaly 17, Primary, Autosomal Recessive

Download Table

Remarks

Patient from 'family 718' in the publication.

References

Li et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617090.3.2	Egypt	Delayed gross motor development; Delayed fine motor development; Delayed speech and language development; Delayed social development; Hypertonia; Brisk reflexes; Simplified gyral pattern; Thin corpus callosum; Short stature; Abnormal facial shape; Microcephaly; Intellectual disability, mild	Female	Yes	Yes	Sister of 617090.3.1
617090.3.3	Egypt	Delayed gross motor development; Delayed speech and language development; Delayed social development; Simplified gyral pattern; Thin corpus callosum; Abnormal facial shape; Microcephaly; Intellectual disability, mild	Male	Yes	Yes	Brother of 617090.3.1