xerosis and growth failure with immune and pulmonary dysfunction syndrome
MONDO:0957786Mondo
Findings
No curated finding names xerosis and growth failure with immune and pulmonary dysfunction syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
27 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.
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- ErythemaHPOHP:0010783
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Moderate to late preterm birthHPOHP:0025664
- 4 of 4 reported patients
- Postnatal growth retardationHPOHP:0008897
- 4 of 4 reported patients
- Atrial septal defectHPOHP:0001631
- 3 of 4 reported patients
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 3 of 4 reported patients
- EctropionHPOHP:0000656
- 3 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 3 reported patients
- EclabionHPOHP:0012472
- 2 of 4 reported patients
- EncephalopathyHPOHP:0001298
- 2 of 4 reported patients
Show the remaining 15
- Long philtrumHPOHP:0000343
- 2 of 4 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 2 of 4 reported patients
- Retinopathy of prematurityHPOHP:0500049
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 4 reported patients
- Cerebral edemaHPOHP:0002181
- 1 of 3 reported patients
- Anterior polar cataractHPOHP:0001134
- 1 of 4 reported patients
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.
- DBR1HGNC:15594
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of