AHSG gene related symptoms and diseases
All the information presented here about the AHSG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AHSG gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Photophobia | Very Common - Between 80% and 100% cases |
Abnormality of skeletal morphology | Very Common - Between 80% and 100% cases |
Abnormal nasal morphology | Very Common - Between 80% and 100% cases |
Alopecia universalis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AHSG gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Sparse body hair
- Aplasia/Hypoplasia of the eyebrow
- Intellectual disability, progressive
- Hypergonadotropic hypogonadism
- Split hand
- Sparse scalp hair
- Falls
- Ichthyosis
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AHSG gene
Here you will find a list of rare diseases related to the AHSG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALOPECIA-INTELLECTUAL DISABILITY SYNDROME
Alternate names
ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome, amr syndrome, apmr
Description
Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
Most common symptoms of ALOPECIA-INTELLECTUAL DISABILITY SYNDROME
- Intellectual disability
- Seizures
- Short stature
- Hearing impairment
- Microcephaly
More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME
Search interest in AHSG
Potential gene panels for AHSG gene
AHSG Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AHSG gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like P3H2 LARS2 EFHC1 CHCHD2 FIBP ZBTB16 SCN10A