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  3. FAM177A1

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.

Table of contents:

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 features

Patients with FAM177A1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Patellar dislocation
  • Scaphocephaly
  • Abnormality of the musculature
  • Celiac disease
  • Pointed chin
  • Psychosis
  • Astigmatism
  • 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

Description

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
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

SOURCES: MESH OMIM



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