Witteveen-kolk Syndrome; Witkos

Description

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Witteveen-kolk Syndrome; Witkos

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
And another 130 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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Witteveen-kolk Syndrome; Witkos Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MECP2, STXBP1, TUSC3, ACSL4, SLC9A6, SLC6A8, ARX, FOXG1, MEF2C, SLC2A1, SMC1A, SCN2A, GRIN2B, CHD2, MBD5, TBC1D24, DEAF1, PQBP1, SCN8A, GRIN1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
SIN3A.

By Fulgent Genetics Fulgent Genetics in United States.

SIN3A
Specificity
100 %
Genes
100 %

Alternate names

Witteveen-kolk Syndrome; Witkos Is also known as ;del(15)(q24); monosomy 15q24.


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