UNC80 gene related symptoms and diseases
All the information presented here about the UNC80 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UNC80 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Esotropia | Uncommon - Between 30% and 50% cases |
Broad forehead | Uncommon - Between 30% and 50% cases |
Severe global developmental delay | Uncommon - Between 30% and 50% cases |
Poor speech | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with UNC80 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Smooth philtrum
- Bulbous nose
- Inability to walk
- Dyskinesia
- Small hand
- Tapered finger
- Sleep disturbance
- Triangular face
And 52 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UNC80 gene
Here you will find a list of rare diseases related to the UNC80. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2
Description
Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).
Most common symptoms of HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2
SOURCES: OMIM
HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME
Alternate names
HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME Is also known as infantile hypotonia-psychomotor retardation-characteristic facies syndrome, ihprf syndrome
Description
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).
More info about HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME
SOURCES: ORPHANET
Search interest in UNC80
Potential gene panels for UNC80 gene
Infantile hypotonia with psychomotor retardation and characteristic facies 2 (sequence analysis of UNC80 gene) Panel
By CGC Genetics
This panel specifically test the UNC80 gene.
More info about this panelInfantile hypotonia with psychomotor retardation and characteristic facies 2 (sequence analysis of UNC80 gene) Panel
By CGC Genetics
This panel specifically test the UNC80 gene.
More info about this panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panelMental retardation - different panels Panel
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 panelUNC80 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UNC80 gene.
More info about this panelEpileptic Encephalopathy Panel Panel
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
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