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.
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
Search interest in AHDC1
Potential gene panels for AHDC1 gene
Mental retardation - different panels Panel
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 panelMental retardation, autosomal dominant type 25 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AHDC1 gene.
More info about this panelAHDC1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AHDC1 gene.
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