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.

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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

SOURCES: ORPHANET OMIM MESH

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


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

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

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

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

NFIX sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the NFIX gene.

More info about this panel

NFIX sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the NFIX gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

NFIX Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the NFIX gene.

More info about this panel

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

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

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

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

Sotos-like syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NFIX gene.

More info about this panel

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

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

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

Single gene testing NFIX Panel

Germany.

By CeGaT GmbH

This panel specifically test the NFIX gene.

More info about this panel

Sotos Syndrom 2 (NFIX) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the NFIX gene.

More info about this panel

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

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

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

NFIX Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NFIX gene.

More info about this panel

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

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

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

Sotos syndrome 2 Panel

Spain.

By Bioarray

This panel specifically test the NFIX gene.

More info about this panel

Marshall-Smith syndrome Panel

Spain.

By Bioarray

This panel specifically test the NFIX gene.

More info about this panel

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

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

MARSHALL-SMITH SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NFIX gene.

More info about this panel

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

Marshall-Smith Syndrome , Sequencing NFIX Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NFIX gene.

More info about this panel

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

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

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


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