Optic Atrophy-peripheral Neuropathy-developmental Delay Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Optic Atrophy-peripheral Neuropathy-developmental Delay Syndrome

ATAD3A

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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

— 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

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.

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 Panel complete gene list SACS, SLC16A2, SLC25A15, KDM5C, BTD, SPG11, ATL1, SPAST, SPG7, SPR, TH, CAPN1, BSCL2, PNPLA6, NIPA1, GJC2, SPART, GBA2, DDHD1, L2HGDH, CYP2U1, ZFYVE26, HACE1, FARS2, FA2H, MARS2, CTNNB1, C19orf12, ATAD3A, REEP1, CYP27A1, CYP7B1, DARS, C12orf65, IBA57, WASHC5, DDHD2, COASY, AFG3L2, FXN, GALC, B4GALNT1, GBE1, GCH1, ALS2, SETX, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KIF5A, L1CAM, ARG1, PAH, KIF1A, PLP1, SLC33A1, RARS 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 Panel complete gene list SACS, SBF1, SCN11A, SCN9A, DST, SLC12A6, SPG11, ATL1, SPTLC1, SPTLC2, SURF1, TFG, MYOT, TTR, VCP, YARS, PRX, PRDM12, ARHGEF10, WNK1, CHCHD10, LDB3, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, ZFYVE26, SBF2, COX10, COX6A1, DHTKD1, GNE, INF2, ATL3, DCAF8, CTDP1, LRSAM1, SLC25A46, ATAD3A, REEP1, RETREG1, C12orf65, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, TYMP, EGR2, FBLN5, FXN, GAN, GARS, GJB1, SETX, AMACR, HADHB, HARS, HINT1, HK1, HSPB1, IGHMBP2, ELP1, KARS, KIF5A, LMNA, SMAD3, MARS, MCM3AP, MME, MPZ, SEPT9, MTMR2, NDRG1, NEFH, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, POLG, BAG3, PRPS1, RAB7A Specificity 2 % Genes 100 %

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 %

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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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