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.
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

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;.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; EDSP2 FRYNS SYNDROME; FRNS BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES; RDGCA FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2