FAM177A1 gene related symptoms and diseases
All the information presented here about the FAM177A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FAM177A1 gene
|Symptoms // Phenotype||% Cases|
|Intellectual disability||Very Common - Between 80% and 100% cases|
|Dolichocephaly||Very Common - Between 80% and 100% cases|
|Cortical tubers||Very Common - Between 80% and 100% cases|
|Patellar subluxation||Very Common - Between 80% and 100% cases|
|Megalencephaly||Very Common - Between 80% and 100% cases|
Other less frequent symptoms and clinical featuresPatients with FAM177A1 gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- Patellar dislocation
- Abnormality of the musculature
- Celiac disease
- Pointed chin
- Broad forehead
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FAM177A1 gene
Here you will find a list of rare diseases related to the FAM177A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Most common symptoms of MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH
- Intellectual disability
- Global developmental delay
- Abnormal facial shape
- Cognitive impairment
More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH