ENDOVE syndrome, limb-brain type
MONDO:0030979Mondo
Findings
No curated finding names ENDOVE syndrome, limb-brain type 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
20 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.
- Aplasia of the 3rd fingerHPOHP:0009460
- 1 of 1 reported patient
- Cerebellar agenesisHPOHP:0012642
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Focal tonic seizureHPOHP:0011167
- 1 of 1 reported patient
- Gastrojejunal tube feeding in infancyHPOHP:0030884
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- HydronephrosisHPOHP:0000126
- 1 of 1 reported patient
- Hypoplasia of the brainstemHPOHP:0002365
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
Show the remaining 8
- Neurogenic bladderHPOHP:0000011
- 1 of 1 reported patient
- OsteomyelitisHPOHP:0002754
- 1 of 1 reported patient
- Persistent head lagHPOHP:0032988
- 1 of 1 reported patient
- Recurrent urinary tract infectionsHPOHP:0000010
- 1 of 1 reported patient
- Talar aplasiaHPOHP:0033977
- 1 of 1 reported patient
- Toe syndactylyHPOHP:0001770
- 1 of 1 reported patient
Where it sits
- A kind of
Other names
2 names
Resolves to: ENDOVE syndrome, limb-brain type
- Also called
- ENDOVESLBMesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies