Okur-chung Neurodevelopmental Syndrome; Ocnds

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Genes related to Okur-chung Neurodevelopmental Syndrome; Ocnds

CSNK2A1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Okur-chung Neurodevelopmental Syndrome; Ocnds

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Scoliosis
Ataxia
Hypertelorism
Failure to thrive
Micrognathia

And another 29 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.

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.

Okur-chung Neurodevelopmental Syndrome; Ocnds Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CSNK2A1. By Fulgent Genetics Fulgent Genetics (United States). CSNK2A1 Specificity 100 % Genes 100 %
OmniSeq Comprehensive. By OmniSeq, Inc. (United States). RHEB, BCL9, ROS1, RPS6KB1, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SMARCB1, SMO, SOX2, SPOP, SRC, BTK, STAT3, STK11, HNF1A, TERT, TIAF1 , (...) View the complete list with 122 more genes Panel complete gene list RHEB, BCL9, ROS1, RPS6KB1, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SMARCB1, SMO, SOX2, SPOP, SRC, BTK, STAT3, STK11, HNF1A, TERT, TIAF1, NKX2-1, MED12, TP53, TSC1, TSC2, U2AF1, VHL, WT1, XPO1, ZNF217, ATP11B, CBL, CCND1, CCNE1, NKX2-8, FBXW7, CD44, CDH1, ACVRL1, CD274, CDK4, CDK6, CDKN2A, DCUN1D1, PDCD1LG2, CSF1R, CSNK2A1, CTNNB1, TET2, DDR2, DNMT3A, KNSTRN, MYO18A, EGFR, ERBB2, ERBB3, ERBB4, ERG, ETV1, ETV4, ETV5, EZH2, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, AKT1, AKT3, MTOR, GAS6, GATA2, GATA3, ALK, GNA11, GNAQ, GNAS, HRAS, IDH1, IDH2, IFITM1, IFITM3, IGF1R, APC, APEX1, BIRC2, BIRC3, IL6, JAK1, JAK2, JAK3, KDR, KIT, KRAS, AR, ARAF, RHOA, SMAD4, MAGOH, MAP2K1, MAP2K2, MAPK1, MAX, MCL1, MDM2, MDM4, MET, MLH1, MPL, MSH2, MYC, MYCL, MYCN, MYD88, ABL1, NF1, NF2, NFE2L2, NOTCH1, PNP, NPM1, ATM, NRAS, NTRK1, NTRK2, NTRK3, PAX5, PDGFRA, PIK3CA, PIK3R1, AXL, PPARG, PPP2R1A, BAP1, PTCH1, PTEN, PTPN11, RAC1, RAF1, RB1, BCL2L1, RET Specificity 1 % Genes 100 %

Panel Name, Specifity and genes Tested/covered

CSNK2A1.

By Fulgent Genetics Fulgent Genetics (United States).

CSNK2A1

Specificity
100 %

Genes
100 %

OmniSeq Comprehensive.

By OmniSeq, Inc. (United States).

RHEB, BCL9, ROS1, RPS6KB1, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SMARCB1, SMO, SOX2, SPOP, SRC, BTK, STAT3, STK11, HNF1A, TERT, TIAF1 , (...)

View the complete list with 122 more genes

Specificity
1 %

Genes
100 %

You can get up to -6 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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