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.
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
Search interest in CCDC88A
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 Germany.
CCDC88A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CCDC88A gene.
More info about this panel United States.
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