ClinVar Miner

Submissions for variant NM_033661.4(WDR4):c.[491A>C];[940dup]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Translational Medicine Center of Children Development and Disease,Fudan University RCV000625529 SCV000598652 uncertain significance Microcephalic primordial dwarfism 2017-09-01 criteria provided, single submitter clinical testing A term baby was born to a non-consanguineous couple by cesarean section. His birth weight was 2650g and has no condition of intrauterine growth retardation. Head circumference is not recorded but mentioned to be smaller than normal range. He did not require the age-appropriate developmental milestones. He was able to walk at 2-year-old without spasticity or abnormal gait. He presents persistent speech development delay as saying single simple words at 3-year-old and unable to say a complete sentence at 6-year-old. He is 110 cm at 6-year-old which is slightly lower than normal range (111.2—121.0cm). Family history of similar condition is negative. The scores of Developmental Screen Test (DST) are low: Developmental Quotient (DQ) is less than 50 and Mental Index (MI) is less than 49. Scores of DQ and MI both less than 70 means abnormal development degree. The results of tandem mass, thyroid function test, cranial magnetic resonance imaging (MRI), electroencephalograph are normal. The diagnosis of this patient in clinical is global developmental delay.

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