Developmental And Speech Delay Due To Sox5 Deficiency

Description

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Clinical Features

Top most frequent phenotypes and symptoms related to Developmental And Speech Delay Due To Sox5 Deficiency

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay
  • Myopia
  • Optic atrophy

And another 21 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.
No data available about the known clinical features onset.

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.


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Developmental And Speech Delay Due To Sox5 Deficiency 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 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RPL10, BDNF, SCN1A, SCN2A, BRAF, SLC6A4, SLC9A6, SMC1A, KDM5C, SNRPN, SOX5, SPAST, ST7, STK3, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
SOX5.

By Fulgent Genetics Fulgent Genetics (United States).

SOX5
Specificity
100 %
Genes
100 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics (Spain).

RPL10, BDNF, SCN1A, SCN2A, BRAF, SLC6A4, SLC9A6, SMC1A, KDM5C, SNRPN, SOX5, SPAST, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A, CNTNAP2, FOXP2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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