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  2. Genes
  3. TAF13

TAF13 gene related symptoms and diseases

All the information presented here about the TAF13 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TAF13 gene

Symptoms // Phenotype % Cases
Intellectual disability 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
Growth delay Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TAF13 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Seizures
  • Mild microcephaly
  • Pachygyria

  • Not very common - Between 30% and 50% cases

  • Bird-like facies
  • Unilateral renal agenesis
  • Chromosome breakage
  • Abnormal cortical bone morphology
  • Intellectual disability, mild

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TAF13 gene

Here you will find a list of rare diseases related to the TAF13. 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

SOURCES: MESH OMIM ORPHANET

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60

SOURCES: OMIM



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