Normosmic Congenital Hypogonadotropic Hypogonadism
Genes related to Normosmic Congenital Hypogonadotropic Hypogonadism
- FGF8
- CHD7
- FGFR1
- KISS1R
- PROK2
- TACR3
- NSMF
- FGF17
- HS6ST1
- SPRY4
- DUSP6
- PROKR2
- WDR11
- ANOS1
- TAC3
- KISS1
- GNRHR
- GNRH1
Clinical Features
Top most frequent phenotypes and symptoms related to Normosmic Congenital Hypogonadotropic Hypogonadism
- Hypertelorism
- Cleft palate
- Cryptorchidism
- Depressed nasal bridge
- Abnormality of the dentition
- Depressivity
- Delayed skeletal maturation
- Osteoporosis
- Micropenis
- Osteopenia
And another 28 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Normosmic Congenital Hypogonadotropic Hypogonadism Is also known as isolated congenital gonadotropin deficiency, normosmic idiopathic hypogonadotropic hypogonadism, gonadotropic deficiency, nihh.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Normosmic Congenital Hypogonadotropic Hypogonadism Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 FGF8 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
FGF8
Specificity
100 %
Genes
6 % |
|
Anosmic Kallmann/IHH Evaluation.
By Athena Diagnostics Inc (United States).
PROKR2, PROK2, FGF8, FGFR1, GNRHR, KISS1R, ANOS1
Specificity
100 %
Genes
39 % |
|
Complete Kallmann/IHH Evaluation.
By Athena Diagnostics Inc (United States).
TACR3, PROKR2, PROK2, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, ANOS1
Specificity
100 %
Genes
56 % |
|
Comprehensive Brain Malformation Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)
View the complete list with 86 more genes
Specificity
1 %
Genes
6 % |
|
Holoprosencephaly.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SHH, SIX3, TGIF1, ZIC2, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL, PTCH1
Specificity
8 %
Genes
6 % |
|
Hypogonadotropic Hypogonadism Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
74 %
Genes
78 % |
|
Holoprosencephaly Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1
Specificity
20 %
Genes
12 % |
|
Holoprosencephaly Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1
Specificity
20 %
Genes
12 % |
You can get up to 450 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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