2p21 Microdeletion Syndrome

Description

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

Clinical Features

Top most frequent phenotypes and symptoms related to 2p21 Microdeletion Syndrome

  • Seizures
  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Depressed nasal bridge
  • Frontal bossing
  • Hypogonadism
  • Hypoglycemia
  • Intellectual disability, moderate

And another 9 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

2p21 Microdeletion Syndrome Is also known as 2p21 deletion syndrome, monosomy 2p21, del(2)(p21).

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

2p21 Microdeletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
25 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TWNK, TIMM8A , (...)

View the complete list with 130 more genes
Specificity
2 %
Genes
75 %
SLC3A1. Complete sequencing.

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

SLC3A1
Specificity
100 %
Genes
25 %
SLC3A1, SLC7A9. NextGeneDx. Complete sequencing by NGS.

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

SLC3A1, SLC7A9
Specificity
50 %
Genes
25 %
Cystinuria (sequence analysis of SLC3A1 gene).

By CGC Genetics (Portugal).

SLC3A1
Specificity
100 %
Genes
25 %
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes).

By CGC Genetics (Portugal).

SLC3A1, SLC7A9, PREPL
Specificity
67 %
Genes
50 %
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes).

By CGC Genetics (Portugal).

SLC3A1, SLC7A9, PREPL
Specificity
67 %
Genes
50 %
Cystinuria.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

SLC3A1, SLC7A9
Specificity
50 %
Genes
25 %

We have 46 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6 MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 POLYCYTHEMIA VERA; PV PEUTZ-JEGHERS SYNDROME; PJS LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more