CCDC88A gene related symptoms and diseases

All the information presented here about the CCDC88A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CCDC88A gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Narrow forehead Very Common - Between 80% and 100% cases
Neonatal hypotonia Very Common - Between 80% and 100% cases
Polymicrogyria Very Common - Between 80% and 100% cases
Tapered finger Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CCDC88A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Full cheeks
  • Brain atrophy
  • Sloping forehead
  • Hypsarrhythmia
  • Kyphoscoliosis
  • Intellectual disability, profound
  • Status epilepticus
  • Open mouth

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CCDC88A gene

Here you will find a list of rare diseases related to the CCDC88A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PEHO-LIKE SYNDROME


Alternate names

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Description

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

Most common symptoms of PEHO-LIKE SYNDROME

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


More info about PEHO-LIKE SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for CCDC88A gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

CCDC88A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CCDC88A gene.

More info about this panel


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