Growth Retardation, Developmental Delay, And Facial Dysmorphism; Gdfd

Description

Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Growth Retardation, Developmental Delay, And Facial Dysmorphism; Gdfd

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cleft palate
  • Abnormal facial shape
  • Cryptorchidism
And another 38 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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Growth Retardation, Developmental Delay, And Facial Dysmorphism; Gdfd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Obesity genetic testing.

By CGC Genetics in Portugal.

MC4R, GNB3, APOA5, ADRB2, INSIG2, FTO
Specificity
17 %
Genes
100 %
FTO-Deficiency Syndrome via FTO Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FTO
Specificity
100 %
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 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
FTO.

By Fulgent Genetics Fulgent Genetics in United States.

FTO
Specificity
100 %
Genes
100 %


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