xeroderma pigmentosum, complementation group J
MONDO:0980987Mondo
Findings
No curated finding names xeroderma pigmentosum, complementation group J 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
- Infantile onset
HPO, annotations 2026-09-02
Features
22 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.
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- ErythemaHPOHP:0010783
- 1 of 1 reported patient
- FallsHPOHP:0002527
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Mild global developmental delayHPOHP:0011342
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- Multiple lentiginesHPOHP:0001003
- 1 of 1 reported patient
- PhotophobiaHPOHP:0000613
- 1 of 1 reported patient
- ScarringHPOHP:0100699
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
Show the remaining 10
- Abnormal hair morphologyHPOHP:0001595
- 0 of 1 reported patient
- Abnormal nail morphologyHPOHP:0001597
- 0 of 1 reported patient
- AnemiaHPOHP:0001903
- 0 of 1 reported patient
- Decreased total leukocyte countHPOHP:0001882
- 0 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 0 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 0 of 1 reported patient
Where it sits
- A kind of