myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities
MONDO:0975797Mondo
Findings
No curated finding names myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
78 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.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- AnemiaHPOHP:0001903
- 3 of 3 reported patients
- BlepharophimosisHPOHP:0000581
- 3 of 3 reported patients
- Circulating nucleated red blood cellsHPOHP:0033281
- 3 of 3 reported patients
- Decreased hemoglobin concentrationHPOHP:0020062
- 3 of 3 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 3 of 3 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 3 of 3 reported patients
- Extramedullary hematopoiesisHPOHP:0001978
- 2 of 2 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 3 of 3 reported patients
- Hip dysplasiaHPOHP:0001385
- 3 of 3 reported patients
Show the remaining 66
- HypertriglyceridemiaHPOHP:0002155
- 3 of 3 reported patients
- Hypoplastic labia minoraHPOHP:0000064
- 1 of 1 reported patient
- Hypoplastic optic chiasmHPOHP:0034311
- 2 of 2 reported patients
- Inability to walkHPOHP:0002540
- 2 of 2 reported patients
- Lower limb hypertoniaHPOHP:0006895
- 2 of 2 reported patients
- MicrophthalmiaHPOHP:0000568
- 3 of 3 reported patients
Where it sits
- A kind of