601815.2

Country

United Arab Emirates

HPO Terms

Intrauterine growth retardation; Microcephaly; Generalized ichthyosis; Feeding difficulties in infancy; Spasticity; short stature; Failure to thrivE; Abnormal facial shape; Brain atrophy; Cerebral hypomyelination; Decreased CSF serine concentration; Abnormal CSF glycine concentration

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Sex

Male

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006623.3:c.1286G>T	2		Phosphoglycerate Dehydrogenase Deficiency

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Remarks

Parents from the same area

References

Alabdullatif et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
601815.1	United Arab Emirates	Microcephaly; Global developmental delay; Seizure; Behavioral abnormality; Nystagmus; Gastroesophageal reflux; Failure to thrive	Male	Yes	No	Cousin with seizures