OCNDS Census

OCNDS DASHBOARD

Welcome to the OCNDS Dashboard. Here we will provide updates from the OCNDS Registry.

Last updated: October 13, 2026

OCNDS Census: The OCNDS census, led by the CSNK2A1 Foundation, is an important effort to accurately count how many people are affected by OCNDS worldwide. We conduct an OCNDS census by asking families to register with the foundation through our contact registry. We count the families newly registered with the Foundation every quarter to update the census. This census is special because our contact registry is one of a kind, as it keeps track of those with OCNDS, even if they speak different languages. This isn’t being done anywhere else.

 

Why a census? The idea for this census came about because there's a big gap in the information we have about OCNDS. We are always asked: How many individuals have been diagnosed with OCNDS? The literature doesn’t represent all the families struggling with OCNDS, and we want to give a better picture of how many people are being diagnosed worldwide. This isn’t a perfect system, as we know many other families that haven’t registered with the foundation for various reasons; however, this census gives us a better idea of how many people have OCNDS worldwide.

 

Why are the census numbers so low when experts believe OCNDS affects thousands? The low census numbers for OCNDS might seem puzzling, especially when experts think that thousands of people could be affected by it. One major reason for this discrepancy is that OCNDS is a rare genetic condition, which means it's not very common. There are over 10,000 rare diseases. Sometimes, doctors do not know about all rare conditions, so they might not recognize the symptoms right away or even make a correct diagnosis. Additionally, many people might not realize that they have OCNDS, especially if their symptoms are mild or if they haven't received a genetic diagnosis. Some families might not have been able to access the necessary genetic testing or might not have been aware of the condition until recently. These factors contribute to the lower numbers in the census.


It's important to spread awareness about OCNDS and encourage families to get genetic testing if they suspect OCNDS so that the true number of affected individuals can be better understood, and more people can receive the right diagnosis and care. Probably Genetic offers free genetic testing to those who qualify.


Why your registration matters? Every individual registered with the CSNK2A1 Foundation helps us build a more complete picture of OCNDS worldwide. By understanding the size, geographic reach, and genetic diversity of our community, we can better support research, inform future clinical studies, and advocate for resources dedicated to OCNDS. Not registered yet? Visit here.

CSNK2A1 Variants Represented

Every person with Okur-Chung Neurodevelopmental Syndrome (OCNDS) has a change in the CSNK2A1 gene. The table below shows the specific changes reported by families in our community and how many individuals carry each one. For most people with OCNDS, the change is in a single spot within the CSNK2A1 gene, referred to as a missense change. For a smaller group of families, the genetic result instead shows that a larger piece of chromosome 20, including all or part of CSNK2A1, is missing. 


These categories describe the type of genetic change, not how severe its effects may be. The impact of a variant depends on the specific change and how it affects the gene or protein. Two individuals with the same type of variant may have different symptoms and developmental outcomes.

Variant Type Count % of total

Missense

 310

72.6%

Deletion

 48

11.2%

Nonsense

 26

6.1%

Splice variant

 19

4.4%

Frameshift

 14

3.3%

Start-loss

 5

1.2%

Duplication

 4

0.9%

More than one variant

 1

0.2%

Definitions


  • Missense: A change in one DNA letter that replaces one building block (amino acid) of a protein with another.
  • Deletion: A change in which a section of DNA is missing. This may involve part of a gene, an entire gene, or multiple genes.
  • Nonsense: A DNA change that creates an early stop signal, causing protein production to end too soon.
  • Splice variant: A change that affects how the cell cuts and joins genetic instructions before making a protein, potentially causing parts of the instructions to be skipped or included incorrectly.
  • Frameshift: DNA letters are added or removed, shifting how the genetic instructions are read and often resulting in an incomplete protein.
  • Start-loss: A change that disrupts the normal start signal for making a protein, potentially preventing or altering protein production.
  • Duplication: A change in which an extra copy of a section of DNA is present. This may include part or all of a gene.
  • More than one variant: An individual has two or more identified genetic changes in the CSNK2A1 gene.

Variant Counts

These numbers reflect the families who have joined our registry so far, not the total number of people living with OCNDS worldwide. The following are ordered in numerical order based on the amino acid number affected (under protein designation). In bold text are the top 5 variants observed in individuals with OCNDS registered with the CSNK2A1 Foundation to date. 

c. designation (DNA coding) p. designation (protein) Count

c.1A>G

 p.M1? 4

c.2T>C

 p.M1? 1

c.152G>C

 p.S5IT 1

c.25del

 p.A9Pfs*37 1

c.52_55delCaCa

 p.H18Dfs*27 1

c.61C>T

 p.R21* 3

c.71A>G

 p.H24R 1

c.79G>A

 p.E27K 3

c.85_86del

 p.H29Cfs*9 1

c.96delA

 p.E32Dfs*14 1

c.124delG

 p.V42Ffs*4 1

c.127C>T

 p.R43* 1

c.139C>G

 p.R47G 1

c.140G>A

p.R47Q

27

c.142G>A

p.G48S

4

c.142G>T

p.G48C

1

c.143G>T

p.G48V

1

c.148T>A

p.Y50N

1

c.149A>C

p.Y50S

1

c.149A>G

p.Y50C

14

c.150_151insTAT

p.Y50dup

1

c.151A>C

p.S51R

2

c.152G>A

p.S51N

2

c.152G>T

p.S51I

1

c.153T>A

p.S51R

2

c.153T>G

p.S51R

1

c.154G>A

p.E52K

1

c.157G>C

p.V53L

1

c.168delC

p.I57Sfs*17

1

c.196G>C

p.V66L

1

c.209T>C

p.L70P

1

c.209T>G

p.L70R

1

__

p.V73E

1

c.224_227del

p.K75Rfs*7

1

c.224dup

p.K76Efs*4

1

__

p.K77del

1

c.228_230del

p.K77del

1

c.235A>T

p.K79*

1

c.239G>A

p.R80H

6

c.283A>T

p.I95F

1

c.298_299del

p.I100Cfs*14

1

c.311del

p.P104Lfs*13

1

c.375C>G

p.Y125?

1

c.376C>T

p.Q126*

1

c.400C>T

p.R134*

5

__

p.A143G

1

c.461A>T

p.H154L

1

c.462_463del

p.H154Qfs*7

1

c.466G>A

p.D156N

2

c.466G>C

p.D156H

1

c.466G>T

p.D156Y

2

c.467A>G

p.D156G

1

c.468T>A

p.D156E

7

c.472A>C

p.K158Q

1

c.473A>G

p.K158R

6

c.473A>T

p.K158M

1

c.479A>G

p.H160R

12

c.481A>C

p.N161H

2

c.482A>G

p.N161S

2

c.482A>T

p.N161I

1

c.505A>T

p.R169*

1

c.514C>T

p.R172*

1

c.522A>G

p.I174M

1

c.523G>A

p.D175N

2

c.523G>C

p.D175H

1

c.524A>C

p.D175A

1

c.524A>G

p.D175G

6

c.524A>T

p.D175V

1

c.525C>A

p.D175E

1

c.526_527del

p.W176Gfs*4

1

c.530G>C

p.G177A

1

c.529G>A

p.G177S

4

c.529G>T

p.G177C

1

c.530G>A

p.G177D

4

c.538C>T

p.R180C

1

c.538G>A

p.E180K

3

c.571dupC

p.R191Pfs*11

1

c.572G>A

p.R191Q

2

c.572G>C

p.R191P

5

c.572G>T

p.R191L

1

c.577G>A

p.A193T

1

c.577G>C

p.A193P

2

c.580T>C

p.S194P

1

c.581C>A

p.S194Y

1

c.581C>T

p.S194F

5

c.583C>T

p.R195*

2

c.584G>A

p.R195Q

2

c.584G>C

p.R195P

1

c.587A>G

p.Y196C

1

c.589T>G

p.F197V

1

c.593A>G

p.K198R

110

c.626A>G

p.Y209C

1

c.638T>C

p.L213S

1

c.641A>T

p.D214V

1

c.643dup

p.M215Nfs*23

2

c.649A>C

p.S217R

1

c.650G>A

p.S217N

4

c.668C>A

p.A223E

1

c.681dup

p.R228Sfs*10

1

c.688G>T

p.E230*

1

c.692C>G

p.P231R

1

c.692C>T

p.P231L

1

__

p.E234G

1

c.717T>A

p.Y239*

1

c.721C>G

p.Q241E

2

c.783C>A

p.Y261*

1

c.783C>G

p.Y261*

1

c.792A>T

p.E264D

1

c.796_817delinsCCTGAA

p.D266Pfs*58

1

c.831_832del

p.R278Kfs*10

1

c.832C>T

p.R278*

2

c.838C>T

p.R280*

1

c.843G>A

p.W281*

1

c.844G>A

p.E282K

1

c.916C>T

p.R306*

2

c.921T>G

p.Y307*

1

c.925C>T

p.H309Y

1

c.934C>T

p.R312W

9

c.935G>A

p.R312Q

3

c.1168C>T

p.Q390*

1

Countries Represented (51 distinct)

For a detailed view, see our OCNDS map.

Country Count
Albania 1
Argentina 3
Australia 13
Belgium 4

Bosnia and Herzegovina

 1

Brazil

 26

Bulgaria

 1

Canada

 23

Chile

 1

China

 15

Colombia

 5

Czech Republic

 3

Denmark

 4

Dominican Republic

 1

Ecuador

 1

Estonia

 1

Finland

 2

France

 14

Germany

 14

Hong Kong

 1

Hungary

 2

India

 3

Ireland

 7

Israel

 4

Italy

 12

Japan

 1

Kazakhstan

 1

Kuwait

 1

Malaysia

 1

Mexico

 3

Netherlands

 13

New Zealand

 1

Norway

 4

Poland

 9

Portugal

 3

Romania

 1

Russia

 1

Slovakia

 1

Slovenia

 1

South Africa

 1

South Korea

 1

Spain

 8

Sweden

 2

Switzerland

 3

Taiwan

 3

Turkey

 1

UAE

 1

UK

 36

Ukraine

 2

Uruguay

 1

USA

 164

Languages Represented (31 distinct)

Country Count
Albanian 1
Arabic 2

Bulgarian

 1

Croatian

 1
Czech 3
Danish 3
Dutch 3
English 239

Estonian

 1

Finnish

 2

French

 25

German

 12

Hebrew

 3

Hungarian

 2

Italian

 12

Japanese

 2

Kazakh

 1

Korean

 1

Malay

 1

Mandarin

 20

Norwegian

 4

Persian

 1

Polish

 9

Portuguese

 27

Romanian

 1

Russian

 3

Slovenian

 1

Spanish

 27

Swedish

 2

Turkish

 1

Ukrainian

 1