MCPH1-AS1 gene related symptoms and diseases

All the information presented here about the MCPH1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MCPH1-AS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Craniosynostosis Very Common - Between 80% and 100% cases
Small cerebral cortex Very Common - Between 80% and 100% cases
Hypoplasia of the frontal lobes Very Common - Between 80% and 100% cases
Bird-like facies Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MCPH1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal cortical bone morphology
  • Mild microcephaly
  • Chromosome breakage
  • Unilateral renal agenesis
  • Hypergonadotropic hypogonadism
  • Pachygyria
  • Heterotopia
  • Spastic tetraplegia

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MCPH1-AS1 gene

Here you will find a list of rare diseases related to the MCPH1-AS1. 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




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