Trait
Ambiguous external genitalia
Clinical name: Ambiguous genitalia
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Summary
- Also called
- Ambiguous external genitalia at birth, Intersex genitalia
- Body system
- Abnormality of the genitourinary system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Ambiguous external genitalia, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test121 genes linked to Ambiguous external genitalia
Changes in these genes cause rare conditions in which Ambiguous external genitalia 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 |
|---|---|---|
| B9D1B9 domain containing 1 | Always | In 2 conditions |
| CYB5Acytochrome b5 type A | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 2 conditions |
| FREM2FRAS1 related extracellular matrix 2 | Always | In 2 conditions |
| NR2F2nuclear receptor subfamily 2 group F member 2 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| ZMYM3zinc finger MYM-type containing 3 | Always | In 1 condition |
| ARXaristaless related homeobox | Very often (80–99%) | In 2 conditions |
| ATRXATRX chromatin remodeler | Very often (80–99%) | In 1 condition |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Very often (80–99%) | In 1 condition |
| DHX37DEAH-box helicase 37 | Very often (80–99%) | In 2 conditions |
| GATA4GATA binding protein 4 | Very often (80–99%) | In 2 conditions |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Very often (80–99%) | In 1 condition |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Very often (80–99%) | In 1 condition |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Very often (80–99%) | In 2 conditions |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Very often (80–99%) | In 6 conditions |
| RIPK4receptor interacting serine/threonine kinase 4 | Very often (80–99%) | In 2 conditions |
| SOX3SRY-box transcription factor 3 | Very often (80–99%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Very often (80–99%) | In 5 conditions |
| SRD5A2steroid 5 alpha-reductase 2 | Very often (80–99%) | In 1 condition |
| SRYsex determining region Y | Very often (80–99%) | In 5 conditions |
| TOE1target of EGR1, exonuclease | Very often (80–99%) | In 2 conditions |
| TSPYL1TSPY like 1 | Very often (80–99%) | In 1 condition |
| VAMP7vesicle associated membrane protein 7 | Very often (80–99%) | In 1 condition |
| WT1WT1 transcription factor | Very often (80–99%) | In 4 conditions |
| WWOXWW domain containing oxidoreductase | Very often (80–99%) | In 1 condition |
| ZFPM2zinc finger protein, FOG family member 2 | Very often (80–99%) | In 2 conditions |
| ARandrogen receptor | Often (30–79%) | In 1 condition |
| B9D2B9 domain containing 2 | Often (30–79%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Often (30–79%) | In 1 condition |
| CTU2cytosolic thiouridylase subunit 2 | Often (30–79%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 2 conditions |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Often (30–79%) | In 2 conditions |
| DYNC2I1dynein 2 intermediate chain 1 | Often (30–79%) | In 2 conditions |
| DYNC2I2dynein 2 intermediate chain 2 | Often (30–79%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Often (30–79%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Often (30–79%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Often (30–79%) | In 1 condition |
Show 81 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| IFT80intraflagellar transport 80 | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Often (30–79%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Often (30–79%) | In 1 condition |
| TCTN1tectonic family member 1 | Often (30–79%) | In 1 condition |
| TCTN2tectonic family member 2 | Often (30–79%) | In 2 conditions |
| TCTN3tectonic family member 3 | Often (30–79%) | In 1 condition |
| TMEM107transmembrane protein 107 | Often (30–79%) | In 1 condition |
| TMEM216transmembrane protein 216 | Often (30–79%) | In 1 condition |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 1 condition |
| TMEM237transmembrane protein 237 | Often (30–79%) | In 1 condition |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Often (30–79%) | In 2 conditions |
| TXNDC15thioredoxin domain containing 15 | Often (30–79%) | In 2 conditions |
| WDR35WD repeat domain 35 | Often (30–79%) | In 1 condition |
| BDNFbrain derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 2 conditions |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 1 condition |
| CEP41centrosomal protein 41 | Sometimes (5–29%) | In 1 condition |
| CEP57centrosomal protein 57 | Sometimes (5–29%) | In 1 condition |
| CKAP2Lcytoskeleton associated protein 2L | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Sometimes (5–29%) | In 1 condition |
| DHCR2424-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Sometimes (5–29%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FOXH1forkhead box H1 | Sometimes (5–29%) | In 1 condition |
| FUZfuzzy planar cell polarity protein | Sometimes (5–29%) | In 1 condition |
| FZD2frizzled class receptor 2 | Sometimes (5–29%) | In 1 condition |
| GAS1growth arrest specific 1 | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HCCSholocytochrome c synthase | Sometimes (5–29%) | In 1 condition |
| HOXD13homeobox D13 | Sometimes (5–29%) | In 1 condition |
| IGF2insulin like growth factor 2 | Sometimes (5–29%) | In 1 condition |
| IRF6interferon regulatory factor 6 | Sometimes (5–29%) | In 1 condition |
| KCNK3potassium two pore domain channel subfamily K member 3 | Sometimes (5–29%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 1 condition |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Sometimes (5–29%) | In 1 condition |
| PAX6paired box 6 | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 3 conditions |
| PTCH1patched 1 | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 1 condition |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| VANGL1VANGL planar cell polarity protein 1 | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Rarely (1–4%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Rarely (1–4%) | In 2 conditions |
| TBC1D24TBC1 domain family member 24 | Rarely (1–4%) | In 1 condition |
| AKR1C2aldo-keto reductase family 1 member C2 | Not recorded | In 1 condition |
| AKR1C4aldo-keto reductase family 1 member C4 | Not recorded | In 1 condition |
| BMP15bone morphogenetic protein 15 | Not recorded | In 1 condition |
| BNC1basonuclin zinc finger protein 1 | Not recorded | In 1 condition |
| CEP120centrosomal protein 120 | Not recorded | In 1 condition |
| CHD4chromodomain helicase DNA binding protein 4 | Not recorded | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Not recorded | In 1 condition |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Not recorded | In 1 condition |
| FIGLAfolliculogenesis specific bHLH transcription factor | Not recorded | In 1 condition |
| FSHRfollicle stimulating hormone receptor | Not recorded | In 1 condition |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Not recorded | In 1 condition |
| IFT81intraflagellar transport 81 | Not recorded | In 1 condition |
| MRPS22mitochondrial ribosomal protein S22 | Not recorded | In 1 condition |
| MSH4mutS homolog 4 | Not recorded | In 1 condition |
| MYRFmyelin regulatory factor | Not recorded | In 1 condition |
| NEK1NIMA related kinase 1 | Not recorded | In 1 condition |
| NUP107nucleoporin 107 | Not recorded | In 1 condition |
| PBX1PBX homeobox 1 | Not recorded | In 1 condition |
| POLR3HRNA polymerase III subunit H | Not recorded | In 1 condition |
| PSMC3IPPSMC3 interacting protein | Not recorded | In 1 condition |
| RSPO1R-spondin 1 | Not recorded | In 1 condition |
| SPIDRscaffold protein involved in DNA repair | Not recorded | In 1 condition |
| TRAIPTRAF interacting protein | Not recorded | In 1 condition |
| ZSWIM7zinc finger SWIM-type containing 7 | 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 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks