Rajab interstitial lung disease with brain calcifications 2
MONDO:0100220Mondo
Findings
No curated finding names Rajab interstitial lung disease with brain calcifications 2 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
- Fetal onset
HPO, annotations 2026-09-02
Features
25 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.
- Abnormal pulmonary interstitial morphologyHPOHP:0006530
- 1 of 1 reported patient
- ArachnodactylyHPOHP:0001166
- 1 of 1 reported patient
- CoughHPOHP:0012735
- 1 of 1 reported patient
- Decreased muscle massHPOHP:0003199
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Elfin faciesHPOHP:0004428
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
Show the remaining 13
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient
- HypoalbuminemiaHPOHP:0003073
- 1 of 1 reported patient
- HypopituitarismHPOHP:0040075
- 1 of 1 reported patient
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
- Joint hypermobilityHPOHP:0001382
- 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.
- FARSAHGNC:3592
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: Rajab interstitial lung disease with brain calcifications 2
- Also called
- RILDBC2