ENDOVE syndrome, limb-only type
MONDO:0030978Mondo
Findings
No curated finding names ENDOVE syndrome, limb-only type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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.
- 3-4 finger cutaneous syndactylyHPOHP:0011939
- 3 of 3 reported patients
- Aplasia of the distal phalanges of the toesHPOHP:0010645
- 3 of 3 reported patients
- Cutaneous syndactyly of toesHPOHP:0010621
- 3 of 3 reported patients
- Disproportionate shortening of the tibiaHPOHP:0005766
- 3 of 3 reported patients
- Fibular hypoplasiaHPOHP:0003038
- 3 of 3 reported patients
- Hypoplastic labia majoraHPOHP:0000059
- 1 of 1 reported patient
- Triangular tibiaHPOHP:0031260
- 3 of 3 reported patients
- Volar fingernailHPOHP:0033976
- 3 of 3 reported patients
- Umbilical herniaHPOHP:0001537
- 2 of 3 reported patients
- Absent proximal finger flexion creasesHPOHP:0006077
- 1 of 3 reported patients
- HydronephrosisHPOHP:0000126
- 1 of 3 reported patients
- Neonatal sepsisHPOHP:0040187
- 1 of 3 reported patients
Show the remaining 2
- Short middle phalanx of the 2nd fingerHPOHP:0009577
- 1 of 3 reported patients
- Vesicoureteral refluxHPOHP:0000076
- 1 of 3 reported patients
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.
- EN1HGNC:3342
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: ENDOVE syndrome, limb-only type
- Also called
- ENDOVESLMesomelia of Lower Extremities With Hand and Foot Anomalies