Neurodevelopmental Disorder-craniofacial Dysmorphism-cardiac Defect-hip Dysplasia Syndrome Due To A Point Mutation

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.

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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.


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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 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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