CCDC22 gene related symptoms and diseases
All the information presented here about the CCDC22 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CCDC22 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Macrocephaly | Very Common - Between 80% and 100% cases |
| Low posterior hairline | Very Common - Between 80% and 100% cases |
| Dandy-Walker malformation | Very Common - Between 80% and 100% cases |
| Renal agenesis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CCDC22 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Global developmental delay
- Broad forehead
- Abnormal cardiac septum morphology
- Camptodactyly
- Cerebellar hypoplasia
- Patent ductus arteriosus
- Syndactyly
- Atrial septal defect
And 127 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CCDC22 gene
Here you will find a list of rare diseases related to the CCDC22. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
3C SYNDROME
Alternate names
3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect, craniocerebellocardiac dysplasia, 3c syndrome, ritscher-schinzel syndrome
Description
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).
Most common symptoms of 3C SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about 3C SYNDROME
RITSCHER-SCHINZEL SYNDROME 2; RTSC2
Description
Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).
Most common symptoms of RITSCHER-SCHINZEL SYNDROME 2; RTSC2
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Growth delay
More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2
SOURCES: OMIM
Search interest in CCDC22
Potential gene panels for CCDC22 gene
NGS XLID Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-Linked Intellectual Disabilities Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-linked Intellectual Disabilities Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
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.
X-linked Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1
More info about this panel United States.
Ritscher-Schinzel syndrome 2 (sequence analysis of CCDC22 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CCDC22 gene.
More info about this panel Portugal.
Ritscher-Schinzel syndrome 2 (sequence analysis of CCDC22 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CCDC22 gene.
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 and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
XLID NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
CCDC22 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CCDC22 gene.
More info about this panel United States.
Ritscher-Schinzel Syndrome Type 2 , Sequencing CCDC22 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CCDC22 gene.
More info about this panel Spain.
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