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.

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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


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

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

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

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

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


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