FRRS1L gene related symptoms and diseases
All the information presented here about the FRRS1L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FRRS1L gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Cerebral atrophy | Uncommon - Between 30% and 50% cases |
| Epileptic encephalopathy | Uncommon - Between 30% and 50% cases |
| Abnormality of movement | Uncommon - Between 30% and 50% cases |
| Developmental regression | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FRRS1L gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Rigidity
- Myoclonus
- Encephalopathy
- Absent speech
- Cerebellar atrophy
- Seizures
- Gait disturbance
- Tremor
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FRRS1L gene
Here you will find a list of rare diseases related to the FRRS1L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONTINUOUS SPIKES AND WAVES DURING SLEEP
Alternate names
CONTINUOUS SPIKES AND WAVES DURING SLEEP Is also known as epileptic encephalopathy with continuous spike-and-wave during slow sleep, cswss syndrome, csws, continuous spikes and waves during slow-wave sleep
Description
Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.
More info about CONTINUOUS SPIKES AND WAVES DURING SLEEP
SOURCES: ORPHANET
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37
Description
Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Nystagmus
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37
SOURCES: OMIM
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as ar-nsid, ns-arid
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
SOURCES: ORPHANET
Search interest in FRRS1L
Potential gene panels for FRRS1L gene
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel United States.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
Choreatic Movement Disorders Panel Panel
Germany.
By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72
More info about this panel Germany.
Invitae Epilepsy Panel Panel
United States.
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
Invitae Early Infantile Epileptic Encephalopathy Panel Panel
United States.
By Invitae Invitae Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A SCN9A SLC2A1 SLC35A2 SLC6A1 SMC1A SPTAN1 CDKL5
More info about this panel United States.
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