N Syndrome; Nsx

Description

N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.

Clinical Features

Top most frequent phenotypes and symptoms related to N Syndrome; Nsx

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Cryptorchidism
  • Spasticity
  • Anemia
  • Neoplasm
  • Visual impairment
  • Hypospadias
  • Leukemia
And another 7 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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N Syndrome; Nsx Recommended genes panels

Panel Name, Specifity and genes Tested/covered
POLA1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

POLA1
Specificity
100 %
Genes
100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %


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