MCPH1-AS1 gene related symptoms and diseases
All the information presented here about the MCPH1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MCPH1-AS1 gene
|Symptoms // Phenotype||% Cases|
|Intellectual disability||Very Common - Between 80% and 100% cases|
|Craniosynostosis||Very Common - Between 80% and 100% cases|
|Small cerebral cortex||Very Common - Between 80% and 100% cases|
|Hypoplasia of the frontal lobes||Very Common - Between 80% and 100% cases|
|Bird-like facies||Very Common - Between 80% and 100% cases|
Other less frequent symptoms and clinical featuresPatients with MCPH1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- Abnormal cortical bone morphology
- Mild microcephaly
- Chromosome breakage
- Unilateral renal agenesis
- Hypergonadotropic hypogonadism
- Spastic tetraplegia
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MCPH1-AS1 gene
Here you will find a list of rare diseases related to the MCPH1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
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
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
- Global developmental delay
- Short stature
More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
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