1. Mendelian
  2. Rare Diseases
  3. SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD

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
And another 8 symptoms. If you need more information about this disease we can help you.
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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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