Chorea, Benign Hereditary; Bhc

Clinical Features

Top most frequent phenotypes and symptoms related to Chorea, Benign Hereditary; Bhc

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance
  • Behavioral abnormality
  • Dystonia
  • Myoclonus
  • Anxiety
  • Mental deterioration

And another 5 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

Chorea, Benign Hereditary; Bhc Is also known as hereditary progressive chorea without dementia, bch.

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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Chorea, Benign Hereditary; Bhc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

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

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
50 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

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

SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel.

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

SFTPB, SFTPC, SLC7A7, NKX2-1, CSF2RA, CSF2RB, ABCA3, FOXF1
Specificity
13 %
Genes
50 %
Diffuse Lung Disease NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPA2, SFTPB, SFTPC, SLC7A7, TERC, TERT, TINF2, NKX2-1, HPS4, CSF2RA, CSF2RB, DKC1, ABCA3, FOXF1, HPS1, AP3B1
Specificity
7 %
Genes
50 %
Pulmonary Alveolar Proteinosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPB, SFTPC, SLC7A7, NKX2-1, CSF2RA, CSF2RB, ABCA3, FOXF1
Specificity
13 %
Genes
50 %
Idiopathic Pulmonary Fibrosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPA2, SFTPC, TERC, TERT, TINF2, NKX2-1, HPS4, DKC1, ABCA3, HPS1, AP3B1
Specificity
10 %
Genes
50 %
Neonatal Respiratory Distress NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPB, SFTPC, NKX2-1, ABCA3, FOXF1
Specificity
20 %
Genes
50 %
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

NKX2-1
Specificity
100 %
Genes
50 %

We have 61 more panels available in our App

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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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