Short Stature, Developmental Delay, And Congenital Heart Defects; Sddhd

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.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OMENN SYNDROME MUIR-TORRE SYNDROME; MRTES COLOBOMA, OCULAR, AUTOSOMAL DOMINANT DIGEORGE SYNDROME; DGS ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY STUVE-WIEDEMANN SYNDROME SPINOCEREBELLAR ATAXIA 21; SCA21