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Trait
Optic nerve hypoplasia
Underdevelopment of the optic nerve.
Summary
- Also called
- Hypoplastic optic nerves, Underdeveloped optic nerves
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library(jsonlite)
url <- "https://dantelabs.com/traits/optic-nerve-hypoplasia.json"
page <- fromJSON(url)
page$trait$nameOptic nerve hypoplasiaHP:0000609
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Get my Genome Test69 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Congenital Cranial Dysinnervation DisordersReads 5 of these genesCOL25A1KIF21APHOX2ATUBA1ATUBB3About this report →
- Congenital Muscular DystrophiesReads 10 of these genesCRPPAB3GALNT2FKRPGMPPBPOMGNT1POMKAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 9 of these genesOTX2HESX1SOX3GLI2LHX3LHX4About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
Show 65 more reports
- Hypogonadotropic HypogonadismReads 10 of these genesOTX2FGFR1HESX1PROKR2SOX3LHX3About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesNFIXDNMT3AAbout this report →
- TubulinopathiesReads 2 of these genesTUBA1ATUBB3About this report →
- Acromelic Frontonasal DysostosisReads 1 of these genesZSWIM6About this report →
- Asparagine Synthetase DeficiencyReads 1 of these genesASNSAbout this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- HyperlysinaemiaReads 1 of these genesAASSAbout this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- NDE1-Related MicrolissencephalyReads 1 of these genesNDE1About this report →
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- SPOP-Related Neurodevelopmental Disorder with MacrocephalyReads 1 of these genesSPOPAbout this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- X-Linked Chondrodysplasia Punctata 1Reads 1 of these genesARSLAbout this report →
- ZIC1-Related CraniosynostosisReads 1 of these genesZIC1About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Lissencephaly Spectrum DisordersReads 4 of these genesCEP85LMACF1NDE1TUBA1AAbout this report →
- Intellectual DisabilityReads 12 of these genesSOX3ANKRD11MED12POGZPUF60SETD2About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 3 of these genesTUBA1ATUBB2BTUBB3About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3CDAbout this report →
- Hereditary Wilms TumourReads 1 of these genesWT1About this report →
- Congenital Disorders of GlycosylationReads 7 of these genesCRPPAFKRPGMPPBPOMGNT1POMT1POMT2About this report →
- Limb-Girdle Muscular DystrophyReads 4 of these genesFKRPGMPPBPOMGNT1FKTNAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 2 of these genesPAX6FOXC1About this report →
- Noonan SyndromeReads 3 of these genesMAP2K2ERFPPP1CBAbout this report →
- Syndromic CraniosynostosisReads 3 of these genesFGFR1ERFRECQL4About this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesALDH1A2About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesOTX2SOX2ALDH1A3About this report →
- 46,XX Differences of Sex DevelopmentReads 1 of these genesSOX3About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesRNU4-2ZFXAbout this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesGNPATAbout this report →
- Hypertrophic CardiomyopathyReads 3 of these genesMAP2K2ERFPPP1CBAbout this report →
- Diabetes MellitusReads 2 of these genesPTF1APAX6About this report →
- GlaucomaReads 1 of these genesFOXC1About this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Kidney CancerReads 1 of these genesPAX6About this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- Long QT SyndromeReads 1 of these genesCACNA1CAbout this report →
- Meckel SyndromeReads 1 of these genesKIF14About this report →
- HyperinsulinismReads 1 of these genesFOXA2About this report →
- Urinary and Renal System TumourReads 1 of these genesPAX6About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesKIF14About this report →
- Fanconi AnemiaReads 1 of these genesFANCIAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesWT1About this report →
- Neonatal Diabetes MellitusReads 1 of these genesPTF1AAbout this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesIFT74About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- Nephrotic SyndromeReads 1 of these genesLAMB2About this report →
- Osteogenesis ImperfectaReads 1 of these genesMBTPS2About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesARMC9About this report →
- DNA Repair DiseaseReads 1 of these genesFANCIAbout this report →
- Epilepsy (Full Panel)Reads 2 of these genesSCN8ASNF8About this report →
- Dilated CardiomyopathyReads 1 of these genesFKTNAbout this report →
- Primary Ciliary DyskinesiaReads 1 of these genesCENPFAbout this report →
- Other Inborn Errors of ImmunityReads 2 of these genesRELPIK3CDAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesFDXRNEFLAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesDDHD2About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesNEFLAbout this report →
- Retinitis PigmentosaReads 1 of these genesPOMGNT1About this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesDDHD2About this report →
Read the genes linked to Optic nerve hypoplasia, and the rest of your genome, with one test.
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Get my Genome Test117 genes linked to Optic nerve hypoplasia
Changes in these genes cause rare conditions in which Optic nerve hypoplasia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Always | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Always | In 1 condition |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| GNPATglyceronephosphate O-acyltransferase | Always | In 1 condition |
| HMBShydroxymethylbilane synthase | Always | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Always | In 1 condition |
| OTX2orthodenticle homeobox 2 | Always | In 3 conditions |
| PTF1Apancreas associated transcription factor 1a | Always | In 2 conditions |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Always | In 1 condition |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Always | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Always | In 1 condition |
| SNF8SNF8 subunit of ESCRT-II | Always | In 1 condition |
| YME1L1YME1 like 1 ATPase | Always | In 1 condition |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Very often (80–99%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Very often (80–99%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Very often (80–99%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 1 condition |
| HESX1HESX homeobox 1 | Very often (80–99%) | In 4 conditions |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Very often (80–99%) | In 1 condition |
| PROKR2prokineticin receptor 2 | Very often (80–99%) | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Very often (80–99%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Very often (80–99%) | In 2 conditions |
| SOX3SRY-box transcription factor 3 | Very often (80–99%) | In 1 condition |
| TUBA8tubulin alpha 8 | Very often (80–99%) | In 1 condition |
| XPO1exportin 1 | Very often (80–99%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Often (30–79%) | In 1 condition |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Often (30–79%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 1 condition |
| CCT3chaperonin containing TCP1 subunit 3 | Often (30–79%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 1 condition |
| DDHD2DDHD domain containing 2 | Often (30–79%) | In 1 condition |
| ERFETS2 repressor factor | Often (30–79%) | In 1 condition |
| FANCIFA complementation group I | Often (30–79%) | In 1 condition |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Often (30–79%) | In 1 condition |
| GLYCTKglycerate kinase | Often (30–79%) | In 1 condition |
| IFT74intraflagellar transport 74 | Often (30–79%) | In 1 condition |
Show 77 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| KCNK4potassium two pore domain channel subfamily K member 4 | Often (30–79%) | In 1 condition |
| KIF14kinesin family member 14 | Often (30–79%) | In 1 condition |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Often (30–79%) | In 1 condition |
| MED12mediator complex subunit 12 | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 1 condition |
| PAX6paired box 6 | Often (30–79%) | In 3 conditions |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Often (30–79%) | In 3 conditions |
| RNF113Aring finger protein 113A | Often (30–79%) | In 1 condition |
| RRAGCRas related GTP binding C | Often (30–79%) | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | Often (30–79%) | In 1 condition |
| SPOPspeckle type BTB/POZ protein | Often (30–79%) | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Often (30–79%) | In 1 condition |
| ARMC9armadillo repeat containing 9 | Sometimes (5–29%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Sometimes (5–29%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Sometimes (5–29%) | In 2 conditions |
| CEP85Lcentrosomal protein 85L | Sometimes (5–29%) | In 1 condition |
| COL25A1collagen type XXV alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Sometimes (5–29%) | In 1 condition |
| FKRPfukutin related protein | Sometimes (5–29%) | In 2 conditions |
| FOXC1forkhead box C1 | Sometimes (5–29%) | In 1 condition |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Sometimes (5–29%) | In 1 condition |
| GATAD2BGATA zinc finger domain containing 2B | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 2 conditions |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 1 condition |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Sometimes (5–29%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sometimes (5–29%) | In 2 conditions |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Sometimes (5–29%) | In 1 condition |
| KIF21Akinesin family member 21A | Sometimes (5–29%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| LHX3LIM homeobox 3 | Sometimes (5–29%) | In 1 condition |
| LHX4LIM homeobox 4 | Sometimes (5–29%) | In 2 conditions |
| MAB21L1mab-21 like 1 | Sometimes (5–29%) | In 1 condition |
| MACF1microtubule actin crosslinking factor 1 | Sometimes (5–29%) | In 1 condition |
| MEF2Cmyocyte enhancer factor 2C | Sometimes (5–29%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Sometimes (5–29%) | In 1 condition |
| NEFLneurofilament light chain | Sometimes (5–29%) | In 1 condition |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sometimes (5–29%) | In 1 condition |
| OTUD5OTU deubiquitinase 5 | Sometimes (5–29%) | In 1 condition |
| PHOX2Apaired like homeobox 2A | Sometimes (5–29%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sometimes (5–29%) | In 1 condition |
| POMKprotein O-mannose kinase | Sometimes (5–29%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| POMT2protein O-mannosyltransferase 2 | Sometimes (5–29%) | In 2 conditions |
| POU1F1POU class 1 homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Sometimes (5–29%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| RNF135ring finger protein 135 | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RTTNrotatin | Sometimes (5–29%) | In 2 conditions |
| SONSON DNA and RNA binding protein | Sometimes (5–29%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| TRIM44TRIM family member 44 | Sometimes (5–29%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Sometimes (5–29%) | In 2 conditions |
| TUBB2Btubulin beta 2B class IIb | Sometimes (5–29%) | In 1 condition |
| TUBB3tubulin beta 3 class III | Sometimes (5–29%) | In 2 conditions |
| WSB2WD repeat and SOCS box containing 2 | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZIC1Zic family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| ZPR1ZPR1 zinc finger | Sometimes (5–29%) | In 1 condition |
| ARSLarylsulfatase L | Rarely (1–4%) | In 1 condition |
| FOXA2forkhead box A2 | Rarely (1–4%) | In 1 condition |
| KDM6Alysine demethylase 6A | Rarely (1–4%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Rarely (1–4%) | In 1 condition |
| MED16mediator complex subunit 16 | Rarely (1–4%) | In 1 condition |
| CENPFcentromere protein F | Not recorded | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Not recorded | In 1 condition |
| FKTNfukutin | Not recorded | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Not recorded | In 1 condition |
| SIX6SIX homeobox 6 | Not recorded | In 1 condition |
| WT1WT1 transcription factor | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.19-9814e911.
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