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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2; Ihprf2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus
  • Failure to thrive
  • Strabismus
  • Spasticity

And another 55 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2; Ihprf2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Infantile hypotonia with psychomotor retardation and characteristic facies 2 (sequence analysis of UNC80 gene).

By CGC Genetics (Portugal).

UNC80
Specificity
100 %
Genes
100 %
Infantile hypotonia with psychomotor retardation and characteristic facies 2 (sequence analysis of UNC80 gene).

By CGC Genetics (Portugal).

UNC80
Specificity
100 %
Genes
100 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, NIPA1, RAB3GAP2, BICD2, GJC2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RTN2, SACS, SLC16A2, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, UCHL1, USP8, VCP, ERLIN2, CAPN1, BSCL2, CCT5, PNPLA6, ERLIN1, NIPA1, RAB3GAP2 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
UNC80.

By Fulgent Genetics Fulgent Genetics (United States).

UNC80
Specificity
100 %
Genes
100 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, ST3GAL3, ST3GAL5, SLC25A1, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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