Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination; Necfm

Description

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination; Necfm

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Failure to thrive
  • Cataract
  • Spasticity
  • Flexion contracture
And another 14 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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Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination; Necfm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
NACC1.

By Fulgent Genetics Fulgent Genetics in United States.

NACC1
Specificity
100 %
Genes
100 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %

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