277590.1

Saudi Arabia

Axial hypotonia; Limb hypertonia; Small anterior fontanelle; Microretrognathia

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004456.5:c.2233G>A	1	NA	Weaver Syndrome

De novo mutation

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
277590.2	Saudi Arabia	Abnormal facial shape; Seizure	Male	Yes	No	Patient's family has a history of multiple miscarriages. Patient's mother is alpha thalassemia carrier.