Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia; Ccafca

Clinical Features

Top most frequent phenotypes and symptoms related to Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia; Ccafca

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay
  • Strabismus
  • Low-set ears
  • Anteverted nares
  • Intellectual disability, severe
  • Hypertonia
And another 25 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.


Mendelian

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Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia; Ccafca Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
FRMD4A.

By Fulgent Genetics Fulgent Genetics in United States.

FRMD4A
Specificity
100 %
Genes
100 %

Alternate names

Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia; Ccafca Is also known as birk-flusser syndrome;.


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