Neurodevelopmental Disorder-craniofacial Dysmorphism-cardiac Defect-hip Dysplasia Syndrome Due To A Point Mutation
Genes related to Neurodevelopmental Disorder-craniofacial Dysmorphism-cardiac Defect-hip Dysplasia Syndrome Due To A Point Mutation
- HNRNPK
Clinical Features
Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder-craniofacial Dysmorphism-cardiac Defect-hip Dysplasia Syndrome Due To A Point Mutation
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Pain
- Cryptorchidism
- Ptosis
- High palate
- Feeding difficulties
- Downslanted palpebral fissures
And another 30 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
Neurodevelopmental Disorder-craniofacial Dysmorphism-cardiac Defect-hip Dysplasia Syndrome Due To A Point Mutation Is also known as au-kline syndrome.
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.Neurodevelopmental Disorder-craniofacial Dysmorphism-cardiac Defect-hip Dysplasia Syndrome Due To A Point Mutation Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Kabuki syndrome NGS test.
By Connective Tissue Gene Tests (United States).
KDM6A, RAB1B, HNRNPK, KMT2D, RAP1A
Specificity
20 %
Genes
100 % |
Kabuki syndrome Comprehensive test.
By Connective Tissue Gene Tests (United States).
KDM6A, RAB1B, HNRNPK, KMT2D, RAP1A
Specificity
20 %
Genes
100 % |
Kabuki syndrome Deletion / Duplication test.
By Connective Tissue Gene Tests (United States).
KDM6A, RAB1B, HNRNPK, KMT2D, RAP1A
Specificity
20 %
Genes
100 % |
Mental retardation - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
Specificity
1 %
Genes
100 % |
HNRNPK.
By Fulgent Genetics Fulgent Genetics (United States).
HNRNPK
Specificity
100 %
Genes
100 % |
KABUKI/KABUKI-LIKE SYNDROME NGS PANEL.
By Laboratorio de Genetica Clinica SL (Spain).
SIX1, SIX5, KDM6A, MACROD2, CHD7, KDM1A, EYA1, FLNB, HNRNPK, IRF6, KMT2D, RAP1A, RAP1B
Specificity
8 %
Genes
100 % |
You can get up to -2 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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