rhizomelic chondrodysplasia punctata type 2
Findings
No curated finding names rhizomelic chondrodysplasia punctata type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.
Definition from the Mondo Disease Ontology (MONDO:0009112), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Coronal cleft vertebraeHPOHP:0003417
- 1 of 1 reported patient
- Decreased circulating plasmalogen concentrationHPOHP:4000165
- 1 of 1 reported patient
- Disproportionate short statureHPOHP:0003498
- 1 of 1 reported patient
- Epiphyseal stipplingHPOHP:0010655
- 2 of 2 reported patients
- Hip contractureHPOHP:0003273
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
Show the remaining 7
- RhizomeliaHPOHP:0008905
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Stippled calcification proximal humeral epiphysesHPOHP:0008838
- 1 of 1 reported patient
- Submucous cleft hard palateHPOHP:0000176
- 1 of 1 reported patient
- Tetralogy of FallotHPOHP:0001636
- 1 of 1 reported patient
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.
- GNPATHGNC:4416
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
9 names
Resolves to: rhizomelic chondrodysplasia punctata type 2
- Also called
- chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiencyDhapat deficiencyDihydroxyacetonephosphate acyltransferase deficiencyGNPAT rhizomelic chondrodysplasia punctataperoxisomal dihydroxyacetonephosphate acyltransferase deficiencyRCDP2rhizomelic chondrodysplasia punctata caused by mutation in GNPATrhizomelic chondrodysplasia punctata, type 2type 2 rhizomelic chondrodysplasia punctata