2p21 microdeletion syndrome
MONDO:0015583Mondo
Findings
No curated finding names 2p21 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.
Definition from the Mondo Disease Ontology (MONDO:0015583), read 2026-09-29. CC BY 4.0.
Features
19 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.
- CystinuriaHPOHP:0003131
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Hypernasal speechHPOHP:0001611
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Kidney stoneHPOHP:0000787
- Very frequent (80% to 99% of cases)
- Long eyelashesHPOHP:0000527
- Very frequent (80% to 99% of cases)
- Mitochondrial respiratory chain defectsHPOHP:0200125
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- HypocalcemiaHPOHP:0002901
- Frequent (30% to 79% of cases)
- Lactic acidosisHPOHP:0003128
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Decreased fetal movementHPOHP:0001558
- Occasional (5% to 29% of cases)
Where it sits
- Narrower terms (1)
Other names
3 names
Resolves to: 2p21 microdeletion syndrome
- Also called
- 2p21 deletion syndromeDel(2)(p21)monosomy 2p21