Holoprosencephaly 11; Hpe11

Clinical Features

Top most frequent phenotypes and symptoms related to Holoprosencephaly 11; Hpe11

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis
  • Cleft lip
  • Synophrys
  • Oral cleft
  • Thick eyebrow
  • Growth hormone deficiency

And another 3 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.

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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Holoprosencephaly 11; Hpe11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
100 %
Holoprosencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1
Specificity
10 %
Genes
100 %
Holoprosencephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1
Specificity
10 %
Genes
100 %
CDON. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CDON
Specificity
100 %
Genes
100 %
Holoprosencephaly 11 (sequence analysis of CDON gene).

By CGC Genetics (Portugal).

CDON
Specificity
100 %
Genes
100 %
Holoprosencephaly (NGS panel for 9 genes).

By CGC Genetics (Portugal).

SHH, SIX3, TGIF1, ZIC2, CDON, FGF8, GLI2, GLI3, PTCH1
Specificity
12 %
Genes
100 %

We have 23 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PACHYONYCHIA CONGENITA 2; PC2 NARCOLEPSY-CATAPLEXY SYNDROME IMMUNODEFICIENCY 31B; IMD31B OGUCHI DISEASE 1 HOLOPROSENCEPHALY 5; HPE5 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

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