Short Stature, Developmental Delay, And Congenital Heart Defects; Sddhd
Genes related to Short Stature, Developmental Delay, And Congenital Heart Defects; Sddhd
- TKT
Clinical Features
Top most frequent phenotypes and symptoms related to Short Stature, Developmental Delay, And Congenital Heart Defects; Sddhd
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Ventricular septal defect
- Atrial septal defect
- Abnormality of cardiovascular system morphology
- Patent ductus arteriosus
- Absent speech
- Abnormal heart morphology
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Incidence and onset information
— Not enough data available about incidence and published cases.

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Short Stature, Developmental Delay, And Congenital Heart Defects; Sddhd Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Transketolase deficiency (TKT).
By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.
TKT
Specificity
100 %
Genes
100 % |
Alternate names
Short Stature, Developmental Delay, And Congenital Heart Defects; Sddhd Is also known as ;short stature-developmental delay-congenital heart defect syndrome; tkt deficiency.
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