Say-Barber-Miller syndrome
MONDO:0009620Mondo
Findings
No curated finding names Say-Barber-Miller syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.
Definition from the Mondo Disease Ontology (MONDO:0009620), read 2026-09-29. CC BY 4.0.
Features
57 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Transient hypogammaglobulinemia of infancyHPOHP:0005432
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Elbow flexion contractureHPOHP:0002987
- Frequent (30% to 79% of cases)
- Erythema nodosumHPOHP:0012219
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- HypogonadismHPOHP:0000135
- Frequent (30% to 79% of cases)
Show the remaining 45
- Impaired neutrophil chemotaxisHPOHP:0040238
- Frequent (30% to 79% of cases)
- Knee flexion contractureHPOHP:0006380
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Multiple epiphyseal dysplasiaHPOHP:0002654
- Frequent (30% to 79% of cases)
- PanniculitisHPOHP:0012490
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Say-Barber-Miller syndrome
- Also called
- microcephaly-hypogammaglobulinemia-abnormal immunity syndrome