MID2 gene related symptoms and diseases

All the information presented here about the MID2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MID2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Poor speech Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Absent speech Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MID2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Macrotia
  • Strabismus
  • Global developmental delay
  • Not very common - Between 30% and 50% cases

  • Hypermetropia
  • Protruding ear
  • Hyperactivity
  • Abnormality of the head
  • Plagiocephaly

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MID2 gene

Here you will find a list of rare diseases related to the MID2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx, mrx18, mental retardation, x-linked 78, mrx78, mental retardation, x-linked 18

Description

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: MESH OMIM ORPHANET

MENTAL RETARDATION, X-LINKED 101; MRX101

Most common symptoms of MENTAL RETARDATION, X-LINKED 101; MRX101

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


More info about MENTAL RETARDATION, X-LINKED 101; MRX101

SOURCES: OMIM


Potential gene panels for MID2 gene

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel
United States.

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel
Portugal.

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel
United States.

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
Germany.

Mental retardation, X-linked type 101 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MID2 gene.

More info about this panel
Germany.

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel
Spain.

MID2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MID2 gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NR2F1 COL25A1 HNF1A TECRL SCN2A NEK2 COL11A1