MIR17HG gene related symptoms and diseases
All the information presented here about the MIR17HG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MIR17HG gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Short stature | Very Common - Between 80% and 100% cases |
Hearing impairment | Very Common - Between 80% and 100% cases |
Microcephaly | Very Common - Between 80% and 100% cases |
Brachydactyly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MIR17HG gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the skeletal system
- Intellectual disability, mild
- Syndactyly
- Clinodactyly
- Short thumb
- Abnormal vertebral morphology
- Cutaneous syndactyly
- Short middle phalanx of finger
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MIR17HG gene
Here you will find a list of rare diseases related to the MIR17HG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FEINGOLD SYNDROME TYPE 2
Alternate names
FEINGOLD SYNDROME TYPE 2 Is also known as brachydactyly with short stature and microcephaly, fs2, fglds2, brunner-winter syndrome type 2, brachydactyly-short stature-microcephaly syndrome, microcephaly-digital anomalies-normal intelligence syndrome type 2, microcephaly-intellectual disability-tracheoes
Description
Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.
Most common symptoms of FEINGOLD SYNDROME TYPE 2
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Brachydactyly
More info about FEINGOLD SYNDROME TYPE 2
Search interest in MIR17HG
Potential gene panels for MIR17HG gene
Feingold Syndrome 2 Panel
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the MIR17HG gene.
More info about this panelCraniofacial Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelCraniofacial Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelCraniofacial Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelFeingold syndrome 2 (sequence analysis of MIR17HG gene) Panel
By CGC Genetics
This panel specifically test the MIR17HG gene.
More info about this panelFeingold syndrome type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MIR17HG gene.
More info about this panelMIR17HG Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MIR17HG gene.
More info about this panelFacial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SF3B4 TCOF1 POLR1C POLR1D CHD7 MIR17HG DHODH EFTUD2 EVC MYCN
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