245590.1.1

Country

United Arab Emirates

HPO Terms

Growth delay; Premature birth; Pneumonia; Sepsis; Recurrent pneumonia; Recurrent urinary tract infections; Feeding difficulties; Failure to thrive; Abnormal lung morphology; ; Severe short stature; Prominent forehead; Depressed nasal bridge; Eczema; Asthma; Thyroiditis; Autoimmune thrombocytopenia

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_012448.4:c.1892G>A	2		Growth Hormone Insensitivity with Immunodeficiency

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Remarks

Proband

References

Foley et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
245590.1.2	United Arab Emirates	Severe short stature; Recurrent pneumonia; Recurrent skin infections; Recurrent urinary tract infections; Lymphadenopathy; Lymphadenopathy; Asthma; Thyroiditis	Male	Yes	Yes	Brother of 245590.1.1
245590.1.3	United Arab Emirates	Severe short stature; Abnormal facial shape; Failure to thrive; Abnormal facial shape; Recurrent skin infections; Eczema; Asthma; Thyroiditis; Gastroesophageal reflux	Female	Yes	Yes	Sister of 245590.1.1
245590.1.4	United Arab Emirates		Female	No		Mother of 245590.1.1
245590.1.5	United Arab Emirates		Male	No		Father of 245590.1.1