Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1; Ihprf1

Description

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1; Ihprf1

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus
  • Failure to thrive
  • Micrognathia
  • Strabismus
  • Abnormal facial shape

And another 39 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.

Alternative names

Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1; Ihprf1 Is also known as ihprf.

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 1; Ihprf1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Distal Arthrogryposis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 %
Distal Arthrogryposis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Distal Arthrogryposis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PANK2, NALCN, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, PLA2G6
Specificity
10 %
Genes
100 %
Congenital contracture syndrome extended NGS panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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