ZC4H2 gene related symptoms and diseases
All the information presented here about the ZC4H2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ZC4H2 gene
Symptoms // Phenotype | % Cases |
---|---|
Respiratory insufficiency | Very Common - Between 80% and 100% cases |
Arthrogryposis multiplex congenita | Very Common - Between 80% and 100% cases |
Short neck | Very Common - Between 80% and 100% cases |
Myopathy | Very Common - Between 80% and 100% cases |
Narrow chest | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ZC4H2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Skeletal muscle atrophy
- Facial palsy
- Kyphosis
- Long philtrum
- Seizures
- Areflexia
- Flexion contracture
- Ptosis
And 105 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ZC4H2 gene
Here you will find a list of rare diseases related to the ZC4H2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME
Alternate names
INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME Is also known as wieacker syndrome, contractures of feet, muscle atrophy, and oculomotor apraxia, foot contractures-muscle atrophy-oculomotor apraxia syndrome, wieacker-wolff syndrome, mrxs4, apraxia, oculomotor, with congenital contractures and muscle atrophy, mcs, miles-carpen
Description
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.
Most common symptoms of INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME
INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY
Alternate names
INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2, amc, distal, x-linked, arthrogryposis, x-linked, type i, spinal muscular atrophy, infantile x-linked, x-linked spinal muscular atrophy type 2, spinal muscular atrophy, x-linked lethal infantile, spinal muscular atrophy with arthrogryposis, x-linked distal
Description
X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
Most common symptoms of INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY
- Seizures
- Generalized hypotonia
- Scoliosis
- Micrognathia
- Strabismus
More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY
Search interest in ZC4H2
Potential gene panels for ZC4H2 gene
NGS XLID Panel Panel
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 panelCongenital Contractures Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panelCustomNext: Neuro Panel
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panelNeurodevelopment-Expanded Panel
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panelIDNext Panel
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panelZC4H2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ZC4H2 gene.
More info about this panelX-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
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 panelWieacker-Wolff Syndrome via ZC4H2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ZC4H2 gene.
More info about this panelMental retardation - different panels Panel
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 panelWieacker-Wolff syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ZC4H2 gene.
More info about this panelCongenital Myasthenic Syndromes and Arthrogryposis Panel Panel
By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
More info about this panelSingle gene testing ZC4H2 Panel
By CeGaT GmbH
This panel specifically test the ZC4H2 gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panelX-linked Intellectual Disability Panel Panel
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panelArthrogryposes Panel Panel
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panelARTHROGRYPOSIS MULTIPLEX CONGENITA WITH INTELLECTUAL DISABILITY (X-LINKED) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ZC4H2 gene.
More info about this panelARTHROGRYPOSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2
More info about this panelWieacker-Wolff Syndrome , Sequencing ZC4H2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ZC4H2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FAM69A PRPH MYLK KIF1A SPOP ARNT2 TNNT1