15q14 Microdeletion Syndrome

Description

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

Clinical Features

Top most frequent phenotypes and symptoms related to 15q14 Microdeletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Low-set ears
  • Delayed speech and language development

And another 32 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

15q14 Microdeletion Syndrome Is also known as del(15)(q14), monosomy 15q14.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

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15q14 Microdeletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae (United States).

RIT1, RPGR, BRAF, SOS1, SPAG1, TBX1, TBX5, RSPH1, ZIC3, CFAP298, NEK8, NSD1, ACTC1, CBL, SHOC2, NME8, LRRC6, ZNF423, ACVR2B, INVS , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Invitae Congenital Heart Disease Panel.

By Invitae (United States).

RIT1, BRAF, SOS1, TBX1, TBX5, ZIC3, NSD1, ACTC1, CRELD1, CBL, SHOC2, ZFPM2, ACVR2B, CHD7, BCOR, MED13L, NKX2-5, LEFTY2, NKX2-6, ELN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
MEIS2.

By Fulgent Genetics Fulgent Genetics (United States).

MEIS2
Specificity
100 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics (Finland).

BMPR2, SOS2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZIC3, ACTA2, ACTB, ADAMTS10, NSD1, ACTC1, ACTG1, CRELD1, CBL, GATA5, SALL4, ZFPM2, TAB2 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %

We have -3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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