Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair; Dedssh

Clinical Features

Top most frequent phenotypes and symptoms related to Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair; Dedssh

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica
  • Hypertelorism
  • Micrognathia
  • Cognitive impairment
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus
And another 20 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

Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair; Dedssh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
DPH1.

By Fulgent Genetics Fulgent Genetics in United States.

DPH1
Specificity
100 %
Genes
100 %
Developmental Delay with Short Stature, Dysmorphic Features and Sparse Hair , Sequencing DPH1 Gene.

By Reference Laboratory Genetics in Spain.

DPH1
Specificity
100 %
Genes
100 %

Alternate names

Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair; Dedssh Is also known as loucks-innes syndrome;developmental delay-short stature-dysmorphic features-sparse hair syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE ID; USH1D RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 MITCHELL-RILEY SYNDROME; MTCHRS METHYLMALONYL-CoA EPIMERASE DEFICIENCY KENNY-CAFFEY SYNDROME, TYPE 1; KCS1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more