chromosome 5q12 deletion syndrome
Findings
No curated finding names chromosome 5q12 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
Definition from the Mondo Disease Ontology (MONDO:0014298), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
76 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.
- Coarse facial featuresHPOHP:0000280
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- StrabismusHPOHP:0000486
- 4 of 4 reported patients
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Broad footHPOHP:0001769
- Very frequent (80% to 99% of cases)
- Broad halluxHPOHP:0010055
- Very frequent (80% to 99% of cases)
- Broad metacarpals
Show the remaining 64
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Short metacarpalHPOHP:0010049
- Very frequent (80% to 99% of cases)
- Short metatarsalHPOHP:0010743
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Short phalanx of fingerHPOHP:0009803
- Very frequent (80% to 99% of cases)
- Short toeHPOHP:0001831
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PDE4DHGNC:8783
- Supportive · Orphanet · Unknown · 2021