ANKLE2 gene related symptoms and diseases

All the information presented here about the ANKLE2 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 ANKLE2 gene

Symptoms // Phenotype % Cases
Tetraplegia 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
Micrognathia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ANKLE2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Ptosis
  • Seizures
  • Agenesis of corpus callosum
  • Spastic tetraplegia
  • Sloping forehead
  • Not very common - Between 30% and 50% cases

  • Intellectual disability
  • Increased rate of premature chromosome condensation
  • Cryptorchidism

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ANKLE2 gene

Here you will find a list of rare diseases related to the ANKLE2. 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

MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Most common symptoms of MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

SOURCES: OMIM


Potential gene panels for ANKLE2 gene

ANKLE2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANKLE2 gene.

More info about this panel

Microcephaly primary autosomal recessive Panel

Spain.

By Laboratorio de Genetica Clinica SL Microcephaly primary autosomal recessive that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM CIT KNL1 WDR62 SASS6 CEP63

More info about this panel


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