Optic Atrophy-peripheral Neuropathy-developmental Delay Syndrome

Description

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Optic Atrophy-peripheral Neuropathy-developmental Delay Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Micrognathia
  • Abnormal facial shape
  • Cataract

And another 35 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Optic Atrophy-peripheral Neuropathy-developmental Delay Syndrome Is also known as harel-yoon syndrome.

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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Optic Atrophy-peripheral Neuropathy-developmental Delay Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spastic Paraplegia Panel.

By Blueprint Genetics (Finland).

SACS, SLC16A2, SLC25A15, KDM5C, BTD, SPG11, ATL1, SPAST, SPG7, SPR, TH, CAPN1, BSCL2, PNPLA6, NIPA1, GJC2, SPART, GBA2, DDHD1, L2HGDH , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics (Finland).

SACS, SBF1, SCN11A, SCN9A, DST, SLC12A6, SPG11, ATL1, SPTLC1, SPTLC2, SURF1, TFG, MYOT, TTR, VCP, YARS, PRX, PRDM12, ARHGEF10, WNK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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