2q37 Microdeletion Syndrome

Description

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

Clinical Features

Top most frequent phenotypes and symptoms related to 2q37 Microdeletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Neoplasm
  • Sensorineural hearing impairment

And another 91 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

2q37 Microdeletion Syndrome Is also known as albright hereditary osteodystrophy-like syndrome, del(2)(q37), monosomy 2q37-qter, brachydactyly-intellectual disability syndrome, albright hereditary osteodystrophy type 3, brachydactyly-mental retardation syndrome, bdmr, deletion 2q37-qter, deletion 2q37.

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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2q37 Microdeletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PASK.

By Fulgent Genetics Fulgent Genetics (United States).

PASK
Specificity
100 %
Genes
25 %
FoundationOneĀ® Heme.

By Foundation Medicine, Inc. (United States).

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 374 more genes
Specificity
1 %
Genes
50 %
HDAC4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HDAC4
Specificity
100 %
Genes
25 %
Brachydactyly-mental retardation syndrome (sequence analysis of HDAC4 gene).

By CGC Genetics (Portugal).

HDAC4
Specificity
100 %
Genes
25 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
25 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
25 %
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
25 %
Brachydacytly-mental retardation syndrome.

By Centogene AG - the Rare Disease Company (Germany).

HDAC4
Specificity
100 %
Genes
25 %

We have 17 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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