46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
MONDO:0011766Mondo
Findings
No curated finding names 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- 1 of 1 reported patient
- Gonadal dysgenesisHPOHP:0000133
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Hypergonadotropic hypogonadismHPOHP:0000815
- 2 of 2 reported patients
- HyporeflexiaHPOHP:0001265
- 2 of 2 reported patients
- Impaired distal tactile sensationHPOHP:0006937
- 2 of 2 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 2 of 2 reported patients
- PolyneuropathyHPOHP:0001271
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Primary amenorrheaHPOHP:0000786
- 2 of 2 reported patients · Young adult onset · Female
- Very frequent (80% to 99% of cases)
- Abnormal female external genitalia morphologyHPOHP:0000055
- Very frequent (80% to 99% of cases)
- Abnormal peripheral myelinationHPOHP:0003130
- Very frequent (80% to 99% of cases)
- Abnormal peripheral nerve morphology by anatomical siteHPOHP:0045010
- Very frequent (80% to 99% of cases)
- Abnormal vagina morphologyHPOHP:0000142
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Abnormality of peripheral nerve conductionHPOHP:0003134
- Very frequent (80% to 99% of cases)
- Decreased serum estradiolHPOHP:0008214
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
- Very frequent (80% to 99% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
- Distal muscle weaknessHPOHP:0002460
- Very frequent (80% to 99% of cases)
- Distal sensory impairment of all modalitiesHPOHP:0003409
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DHHHGNC:2865
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- Also called
- 46XY gonadal dysgenesis with minifascicular neuropathy