HESX1 gene related symptoms and diseases
All the information presented here about the HESX1 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 HESX1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Septo-optic dysplasia | Very Common - Between 80% and 100% cases |
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Cryptorchidism | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with HESX1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypothyroidism
- Global developmental delay
Not very common - Between 30% and 50% cases
- Ectopic posterior pituitary
- Constipation
- Hypoplasia of penis
- Absent septum pellucidum
- Abnormality of the hypothalamus-pituitary axis
- Anterior pituitary hypoplasia
And 151 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HESX1 gene
Here you will find a list of rare diseases related to the HESX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KALLMANN SYNDROME
Alternate names
KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia, olfacto-genital pathological sequence
Description
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).
Most common symptoms of KALLMANN SYNDROME
- Seizures
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
- Muscle weakness
More info about KALLMANN SYNDROME
SOURCES: ORPHANET
SEPTO-OPTIC DYSPLASIA SPECTRUM
Alternate names
SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod, septo-optic dysplasia, de morsier syndrome
Description
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Most common symptoms of SEPTO-OPTIC DYSPLASIA SPECTRUM
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Nystagmus
More info about SEPTO-OPTIC DYSPLASIA SPECTRUM
SOURCES: ORPHANET
SEPTOOPTIC DYSPLASIA
Alternate names
SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome
Description
Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.
Most common symptoms of SEPTOOPTIC DYSPLASIA
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Growth delay
More info about SEPTOOPTIC DYSPLASIA
SOURCES: OMIM
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS
Alternate names
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms, familial congenital hypopituitarism
Description
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.
Most common symptoms of COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS
PITUITARY STALK INTERRUPTION SYNDROME
Alternate names
PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis, ectopic neurohypophysis
Description
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.
Most common symptoms of PITUITARY STALK INTERRUPTION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Failure to thrive
More info about PITUITARY STALK INTERRUPTION SYNDROME
SOURCES: ORPHANET
HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION
Description
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.
Most common symptoms of HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION
- Intellectual disability
- Global developmental delay
- Short stature
- Muscular hypotonia
- Feeding difficulties
More info about HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION
SOURCES: ORPHANET
Search interest in HESX1
Potential gene panels for HESX1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Septooptic Dysplasia Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the HESX1 gene.
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.
Septo-Optic Dysplasia and Schizencephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Septo-Optic Dysplasia and Schizencephaly that also includes the following genes: SHH SIX3 SOX2 COL4A1 EMX2 HESX1
More info about this panel United States.
HESX1 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the HESX1 gene.
More info about this panel United States.
HESX1 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the HESX1 gene.
More info about this panel Netherlands.
HESX1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HESX1 gene.
More info about this panel Spain.
Pituitary hormone deficiency, combined 5 (sequence analysis of HESX1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HESX1 gene.
More info about this panel Portugal.
Septooptic dysplasia (sequence analysis of HESX1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HESX1 gene.
More info about this panel Portugal.
Congenital hypopituitarism (NGS panel for 7 genes) Panel
Portugal.
By CGC Genetics Congenital hypopituitarism (NGS panel for 7 genes) that also includes the following genes: SOX3 LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Portugal.
Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel
Portugal.
By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1
More info about this panel Portugal.
Septooptic dysplasia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2
More info about this panel Portugal.
Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel
Portugal.
By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1
More info about this panel Portugal.
Septooptic dysplasia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2
More info about this panel Portugal.
Congenital hypopituitarism (NGS panel for 7 genes) Panel
Portugal.
By CGC Genetics Congenital hypopituitarism (NGS panel for 7 genes) that also includes the following genes: SOX3 LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Portugal.
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TRH TSHB DUOX2
More info about this panel United States.
HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the HESX1 gene.
More info about this panel United States.
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection that also includes the following genes: SOX2 HESX1 OTX2 PAX6 PROP1
More info about this panel United States.
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection that also includes the following genes: SOX2 SOX3 LHX4 GLI2 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel United States.
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2
More info about this panel United States.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Short stature with endocrinopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Short stature with endocrinopathy NGS panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel United States.
Short stature with endocrinopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Short stature with endocrinopathy Deletion / Duplication panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel United States.
Short stature with endocrinopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Short stature with endocrinopathy Comprehensive panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
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.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel Germany.
Septooptic dysplasia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HESX1 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.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
HESX1 Panel
Denmark.
By Amplexa Genetics Amplexa Genetics A/S
This panel specifically test the HESX1 gene.
More info about this panel Denmark.
Septo-optical dysplasia Panel Panel
Germany.
By CeGaT GmbH Septo-optical dysplasia Panel that also includes the following genes: SOX2 SOX3 PROKR2 TAX1BP3 FGFR2 HESX1 OTX2
More info about this panel Germany.
Single gene testing HESX1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the HESX1 gene.
More info about this panel Germany.
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1
More info about this panel Estonia.
Combined Pituitary Hormone Deficiency Panel
Estonia.
By Asper Biogene Asper Biogene LLC Combined Pituitary Hormone Deficiency that also includes the following genes: LHX4 GH1 GHRHR HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Estonia.
Hypothyroidism and Thyroid Hormone Resistance Panel
Estonia.
By Asper Biogene Asper Biogene LLC Hypothyroidism and Thyroid Hormone Resistance that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD
More info about this panel Estonia.
Developmental Eye Disease panel Panel
United States.
By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1
More info about this panel United States.
Septo-optic dysplasia Panel
United States.
By Molecular Vision Laboratory Septo-optic dysplasia that also includes the following genes: SOX2 HESX1 OTX2 PAX6
More info about this panel United States.
Pituary hormone deficiency Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the HESX1 gene.
More info about this panel Austria.
Septooptic Dysplasia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the HESX1 gene.
More info about this panel Austria.
Pituary hormone deficiency Panel
Slovakia.
By MedGene
This panel specifically test the HESX1 gene.
More info about this panel Slovakia.
Septooptic Dysplasia Panel
Slovakia.
By MedGene
This panel specifically test the HESX1 gene.
More info about this panel Slovakia.
Morsier syndrome: HESX1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the HESX1 gene.
More info about this panel Spain.
Combined pituitary hormone deficiency (CPHD): HESX1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the HESX1 gene.
More info about this panel Spain.
Septooptic dysplasia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Septooptic dysplasia that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6
More info about this panel Spain.
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panel United States.
Septo-optic Dysplasia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Septo-optic Dysplasia NGS Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6 PROP1
More info about this panel United States.
HESX1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HESX1 gene.
More info about this panel United States.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
Neuro-Ophthalmology Panel Panel
Finland.
By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panel Finland.
Septo-Optic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Septo-Optic Dysplasia Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6
More info about this panel Finland.
Hypothyroidism and Resistance to Thyroid Hormone Panel Panel
Finland.
By Blueprint Genetics Hypothyroidism and Resistance to Thyroid Hormone Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 NKX2-5
More info about this panel Finland.
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
Finland.
By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
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.
Septo-optic dysplasia Panel
Spain.
By Bioarray
This panel specifically test the HESX1 gene.
More info about this panel Spain.
Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel that also includes the following genes: BTK LHX4 GH1 GHRHR GHSR HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel United States.
Combined Pituitary Hormone Deficiency NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Combined Pituitary Hormone Deficiency NGS and Deletion/Duplication Panel that also includes the following genes: LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel United States.
Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel that also includes the following genes: LHX4 GH1 GHR GHRHR GHSR HESX1 POU1F1 PROP1
More info about this panel United States.
HESX1 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 HESX1 gene.
More info about this panel United States.
COMBINED PITUITARY HORMONE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL COMBINED PITUITARY HORMONE DEFICIENCY that also includes the following genes: LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Spain.
HANHART DWARFISM Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HESX1 gene.
More info about this panel Spain.
SEPTO-OPTIC DYSPLASIA (MORSIER SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HESX1 gene.
More info about this panel Spain.
ANOPHTHALMIA/ MICROPHTALMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA that also includes the following genes: SHH SIX3 SIX6 SOX2 RAX VSX2 HESX1 OTX2 PAX6
More info about this panel Spain.
HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1
More info about this panel Spain.
Septo-Optic Dysplasia , Sequencing HESX1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HESX1 gene.
More info about this panel Spain.
Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Spain.
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6
More info about this panel Spain.
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