NCAPD3 gene related symptoms and diseases
All the information presented here about the NCAPD3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NCAPD3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Mild microcephaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NCAPD3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Heterotopia
- Pachygyria
- Hypergonadotropic hypogonadism
- Unilateral renal agenesis
- Chromosome breakage
- Intellectual disability
- Abnormal cortical bone morphology
- Bird-like facies
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NCAPD3 gene
Here you will find a list of rare diseases related to the NCAPD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
Alternate names
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph, premature chromosome condensation with microcephaly and mental retardation, pcc syndrome, true microcephaly, premature chromosome condensation syndrome, microcephalia vera, microcephaly vera
Description
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Most common symptoms of AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22
Most common symptoms of MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
- Hypertonia
More info about MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22
SOURCES: OMIM
Search interest in NCAPD3
Potential gene panels for NCAPD3 gene
NCAPD3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NCAPD3 gene.
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MCPH1-AS1