Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies; Hyc2

Description

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

Clinical Features

Top most frequent phenotypes and symptoms related to Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies; Hyc2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Motor delay
  • Macrocephaly

And another 37 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

Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies; Hyc2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly.

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.

Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies; Hyc2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Hydrocephalus Panel.

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

CCDC88C, L1CAM, MPDZ
Specificity
34 %
Genes
50 %
Autosomal recessive non-syndromic hydrocehalus panel.

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

CCDC88C, MPDZ
Specificity
50 %
Genes
50 %
Hydrocephalus, nonsyndromic, type 2 AR (sequence analysis of MPDZ gene).

By CGC Genetics (Portugal).

MPDZ
Specificity
100 %
Genes
50 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ZIC3, HDAC6, CCND2, CRB2, CCDC88C, FLVCR2, WDR81, DNAI1, EML1, AKT3, AP1S2, L1CAM, MPDZ, P4HB, PIK3R2, POMT1, PTEN
Specificity
6 %
Genes
50 %
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
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Hydrocephalus, nonsyndromic, autosomal recessive type 2.

By Centogene AG - the Rare Disease Company (Germany).

MPDZ
Specificity
100 %
Genes
50 %

You can get up to 114 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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