Ahdc1-related Intellectual Disability-obstructive Sleep Apnea-mild Dysmorphism Syndrome

Description

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Ahdc1-related Intellectual Disability-obstructive Sleep Apnea-mild Dysmorphism Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus

And another 20 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

Ahdc1-related Intellectual Disability-obstructive Sleep Apnea-mild Dysmorphism Syndrome Is also known as mrd25, xia-gibbs syndrome, mental retardation, autosomal dominant 25.

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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Ahdc1-related Intellectual Disability-obstructive Sleep Apnea-mild Dysmorphism 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 %
Mental retardation, autosomal dominant type 25.

By Centogene AG - the Rare Disease Company (Germany).

AHDC1
Specificity
100 %
Genes
100 %
AHDC1.

By Fulgent Genetics Fulgent Genetics (United States).

AHDC1
Specificity
100 %
Genes
100 %

We have -5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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