12q14 microdeletion syndrome
Findings
No curated finding names 12q14 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.
Definition from the Mondo Disease Ontology (MONDO:0019784), read 2026-09-29. CC BY 4.0.
Features
39 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.
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
Show the remaining 27
- Abnormality of the spleenHPOHP:0001743
- Occasional (5% to 29% of cases)
- Chiari malformationHPOHP:0002308
- Occasional (5% to 29% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- Deeply set eyeHPOHP:0000490
- Occasional (5% to 29% of cases)
- Diabetes mellitusHPOHP:0000819
- Occasional (5% to 29% of cases)
- Downturned corners of mouthHPOHP:0002714
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: 12q14 microdeletion syndrome
- Also called
- Del(12)(q14)deletion 12q14monosomy 12q14osteopoikilosis-short stature-intellectual disability syndrome