619983.1.1

Country

Saudi Arabia

HPO Terms

Failure to thrive; Growth delay; Short stature; Intellectual disability; Absent speech; Seizure; Hypotonia; Panhypopituitarism; Agenesis of corpus callosum; Small pituitary gland; Synophrys; Hypertelorism; Long eyelashes; Death in childhood

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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_030630.3:c.2318dup	2	NA	Developmental and Epileptic Encephalopathy 105 with Hypopituitarism

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Remarks

Patient from 'family 3' in Schänzer et al. 2021

References

Monies et al. 2017;
Schänzer et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619983.1.2	Saudi Arabia		Male			Father of 619983.1.1
619983.1.3	Saudi Arabia		Female			Mother of 619983.1.1