NCAPD3 gene related symptoms and diseases

All the information presented here about the NCAPD3 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 NCAPD3 gene

Symptoms // Phenotype % Cases
Seizures 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
Mild microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NCAPD3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Heterotopia
  • Pachygyria
  • Hypergonadotropic hypogonadism
  • Unilateral renal agenesis
  • Chromosome breakage
  • Intellectual disability
  • Abnormal cortical bone morphology
  • Bird-like facies

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NCAPD3 gene

Here you will find a list of rare diseases related to the NCAPD3. 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 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22


Most common symptoms of MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22

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


More info about MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22

SOURCES: OMIM


Potential gene panels for NCAPD3 gene

NCAPD3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NCAPD3 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MCPH1-AS1

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