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.

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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


Potential gene panels for UNC80 gene

Infantile hypotonia with psychomotor retardation and characteristic facies 2 (sequence analysis of UNC80 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the UNC80 gene.

More info about this panel

Infantile hypotonia with psychomotor retardation and characteristic facies 2 (sequence analysis of UNC80 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the UNC80 gene.

More info about this panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

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 panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

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 panel

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

UNC80 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UNC80 gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

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 panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel


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