Pontocerebellar Hypoplasia Type 10

Description

Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Pontocerebellar Hypoplasia Type 10

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cryptorchidism

And another 37 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 10 Is also known as pch10, clp1-related pontocerebellar hypoplasia.

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 10 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics (Portugal).

STIL, BUB1B, TUBG1, VRK1, SLC25A19, NIN, CASK, TSEN34, ZNF335, PCNT, STAMBP, CLP1, CENPJ, NDE1, EXOSC3, TUBGCP6, IER3IP1, CDK5RAP2, ASPM, MBD5 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Pontocerebellar Hypoplasia via CLP1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CLP1
Specificity
100 %
Genes
100 %
Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

VRK1, TSEN34, TSEN15, CLP1, EXOSC3, RARS2, VPS53, TSEN54, TSEN2, SEPSECS, AMPD2, CHMP1A
Specificity
9 %
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 %
Neuropathy.

By MGZ Medical Genetics Center (Germany).

SACS, SCN10A, SCN11A, SCN9A, SH3BP4, SLC12A6, SOD1, SPG11, ATL1, SPAST, SPTLC1, SPTLC2, SQSTM1, SURF1, TARDBP, TFG, TNNT2, TTR, UBQLN2, VAPB , (...)

View the complete list with 101 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center (Germany).

SCN1A, SCN1B, SCN2A, SCN8A, SGCE, SLC2A1, SPTAN1, CDKL5, STXBP1, SYNGAP1, SYNJ1, TUBB2A, UBE3A, PCDH19, NPC2, ARHGEF9, GPHN, ARHGEF15, PANK2, PLCB1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center (Germany).

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SGCE, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC6A8, SPG7, SPTAN1, CDKL5 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
100 %

You can get up to 8 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET 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 THANATOPHORIC DYSPLASIA, TYPE II; TD2 NAXOS DISEASE; NXD ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A FAMILIAL COLD URTICARIA STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1