AHDC1 gene related symptoms and diseases

All the information presented here about the AHDC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AHDC1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Upslanted palpebral fissure Very Common - Between 80% and 100% cases
Retrocerebellar cyst Very Common - Between 80% and 100% cases
Snoring Very Common - Between 80% and 100% cases
Obstructive sleep apnea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AHDC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Tracheomalacia
  • Cortical gyral simplification
  • Laryngomalacia
  • Sleep apnea
  • Esotropia
  • Delayed myelination
  • Broad forehead
  • Apnea

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AHDC1 gene

Here you will find a list of rare diseases related to the AHDC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME


Alternate names

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25, xia-gibbs syndrome, mental retardation, autosomal dominant 25

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.

Most common symptoms of AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for AHDC1 gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Mental retardation, autosomal dominant type 25 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AHDC1 gene.

More info about this panel

AHDC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AHDC1 gene.

More info about this panel


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