Pontocerebellar Hypoplasia Type 6

Description

Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Pontocerebellar Hypoplasia Type 6

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Feeding difficulties
  • Hyperreflexia
  • Optic atrophy
  • Cerebellar atrophy
  • Cerebral atrophy

And another 29 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.

Alternative names

Pontocerebellar Hypoplasia Type 6 Is also known as fatal infantile encephalopathy with mitochondrial respiratory chain defects, pch6, encephalopathy, fatal infantile, with mitochondrial respiratory chain defects.

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.

Pontocerebellar Hypoplasia Type 6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
RARS2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RARS2
Specificity
100 %
Genes
100 %
RARS2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RARS2
Specificity
100 %
Genes
100 %
RARS2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RARS2
Specificity
100 %
Genes
100 %
RARS2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RARS2
Specificity
100 %
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 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel.

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

TUBA8, VLDLR, VRK1, CASK, TSEN34, CDK5, EXOSC3, TUBA1A, TUBB3, RARS2, TSEN54, TSEN2, SEPSECS, TUBB2B, AMPD2, OPHN1, CHMP1A, RELN
Specificity
6 %
Genes
100 %

You can get up to 43 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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