NFIX gene related symptoms and diseases
All the information presented here about the NFIX gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NFIX gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Accelerated skeletal maturation | Uncommon - Between 30% and 50% cases |
| High forehead | Uncommon - Between 30% and 50% cases |
| Ventriculomegaly | Uncommon - Between 30% and 50% cases |
| Motor delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NFIX gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Pectus excavatum
- Scoliosis
- Overgrowth
- Generalized hypotonia
Rarely - Less than 30% cases
- Decreased body weight
- Abnormality of the larynx
- Villous atrophy
- Upper airway obstruction
And 114 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NFIX gene
Here you will find a list of rare diseases related to the NFIX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MARSHALL-SMITH SYNDROME
Alternate names
MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
Description
Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.
Most common symptoms of MARSHALL-SMITH SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MARSHALL-SMITH SYNDROME
MALAN OVERGROWTH SYNDROME
Alternate names
MALAN OVERGROWTH SYNDROME Is also known as sotos syndrome 2
Description
Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.
More info about MALAN OVERGROWTH SYNDROME
SOURCES: ORPHANET
SOTOS SYNDROME 2; SOTOS2
Alternate names
SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome
Most common symptoms of SOTOS SYNDROME 2; SOTOS2
- Intellectual disability
- Generalized hypotonia
- Scoliosis
- Nystagmus
- Strabismus
More info about SOTOS SYNDROME 2; SOTOS2
SOURCES: OMIM
19P13.3 MICRODUPLICATION SYNDROME
Alternate names
19P13.3 MICRODUPLICATION SYNDROME Is also known as dup(19)(p13.13)
Description
19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.
More info about 19P13.3 MICRODUPLICATION SYNDROME
SOURCES: ORPHANET
Search interest in NFIX
Potential gene panels for NFIX gene
NGS Overgrowth/Macrocephaly Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Overgrowth/Macrocephaly Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 UPF3B RNF135 CUL4B DNMT3A EZH2 GLI3
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Macrocephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Macrocephaly that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 NFIX PIK3CA PTCH1
More info about this panel United States.
Macrocephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Deletion/Duplication Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
NFIX sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the NFIX gene.
More info about this panel United States.
NFIX sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the NFIX gene.
More info about this panel United States.
Macrocephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Sequencing Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
NFIX. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NFIX gene.
More info about this panel Spain.
NFIX. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NFIX gene.
More info about this panel Spain.
Sotos syndrome 2 (sequence analysis of NFIX gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NFIX gene.
More info about this panel Portugal.
Macrocephaly (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Macrocephaly (NGS panel for 16 genes) that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA
More info about this panel Portugal.
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Overgrowth syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Overgrowth syndrome NGS panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB
More info about this panel United States.
Overgrowth syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Overgrowth syndrome Comprehensive panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB
More info about this panel United States.
Overgrowth syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Overgrowth syndrome Deletion / Duplication panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB
More info about this panel United States.
Sotos syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Sotos syndrome and related disorders Comprehensive panel that also includes the following genes: NSD1 APC2 EZH2 NFIX
More info about this panel United States.
Sotos syndrome and related disorders Deletion/Duplication panel Panel
United States.
By Connective Tissue Gene Tests Sotos syndrome and related disorders Deletion/Duplication panel that also includes the following genes: NSD1 APC2 EZH2 NFIX
More info about this panel United States.
Sotos syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Sotos syndrome and related disorders NGS panel that also includes the following genes: NSD1 APC2 EZH2 NFIX
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.
NFIX Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the NFIX gene.
More info about this panel Germany.
Macrocephaly Panel
Germany.
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
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.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Sotos-like syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NFIX gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Macrocephaly Panel Panel
Germany.
By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3
More info about this panel Germany.
Macrocephaly Panel Panel
Germany.
By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3
More info about this panel Germany.
Single gene testing NFIX Panel
Germany.
By CeGaT GmbH
This panel specifically test the NFIX gene.
More info about this panel Germany.
Sotos Syndrom 2 (NFIX) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the NFIX gene.
More info about this panel Germany.
Invitae Overgrowth and Macrocephaly Syndromes Panel Panel
United States.
By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2
More info about this panel United States.
Overgrowth syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Overgrowth syndrome that also includes the following genes: NSD1 EZH2 GPC3 GPC4 NFIX
More info about this panel Spain.
Macrocephaly: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macrocephaly: Sequencing Panel that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 GPC3 NFIX PTCH1
More info about this panel United States.
NFIX Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NFIX gene.
More info about this panel United States.
Macrocephaly / Overgrowth Syndrome Panel Panel
Finland.
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Sotos syndrome 2 Panel
Spain.
By Bioarray
This panel specifically test the NFIX gene.
More info about this panel Spain.
Marshall-Smith syndrome Panel
Spain.
By Bioarray
This panel specifically test the NFIX gene.
More info about this panel Spain.
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel that also includes the following genes: NSD1 CDKN1C TMCO1 SETD2 RNF135 DIS3L2 DNMT3A EZH2 GPC3 NFIX
More info about this panel United States.
NFIX Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the NFIX gene.
More info about this panel United States.
MARSHALL-SMITH SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NFIX gene.
More info about this panel Spain.
SOTOS SYNDROME 2 (SOTOS-LIKE) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NFIX gene.
More info about this panel Spain.
Marshall-Smith Syndrome , Sequencing NFIX Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NFIX gene.
More info about this panel Spain.
Sotos Syndrome Type 2, Sequencing NFIX Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NFIX gene.
More info about this panel Spain.
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes Panel
Spain.
By Reference Laboratory Genetics Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WISP3 RAD51B EBF3 KCNB1 HCFC1 DOP1A