Holoprosencephaly 5; Hpe5

Description

Holoprosencephaly associated with mutations in the ZIC2 gene.

Clinical Features

Top most frequent phenotypes and symptoms related to Holoprosencephaly 5; Hpe5

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Ptosis
  • High palate
  • Depressed nasal bridge
  • Macrocephaly

And another 31 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Holoprosencephaly 5; Hpe5 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 %
Holoprosencephaly Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SHH, SIX3, TGIF1, ZIC2, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1
Specificity
10 %
Genes
100 %
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SHH, SIX3, TGIF1, ZIC2, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1
Specificity
10 %
Genes
100 %
ZIC2. Complete sequencing.

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

ZIC2
Specificity
100 %
Genes
100 %

We have 37 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2; HNFJ2 AGNATHIA-OTOCEPHALY COMPLEX; AGOTC CONOTRUNCAL HEART MALFORMATIONS; CTHM BIOTINIDASE DEFICIENCY

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more