leukocyte adhesion deficiency type II
Findings
No curated finding names leukocyte adhesion deficiency type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0009953), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
78 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.
- Autistic behaviorHPOHP:0000729
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- Bulbous noseHPOHP:0000414
- 2 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
Show the remaining 66
- Widow's peakHPOHP:0000349
- 2 of 2 reported patients
- Abnormal circulating isohemagglutinin concentrationHPOHP:0410292
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Increased total leukocyte countHPOHP:0001974
- Very frequent (80% to 99% of cases)
- Increased total neutrophil countHPOHP:0011897
- 0 of 2 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.
- SLC35C1HGNC:20197
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
14 names
Resolves to: leukocyte adhesion deficiency type II
- Also called
- CDG IIcCDG syndrome type IIcCDG-IIcCDG2CCDGIIcLAD-IIlad-type IILAD2leukocyte adhesion deficiency type 2leukocyte adhesion deficiency, type IIRambam-Hasharon syndromeRHSsialyl-Lewis X defectSLC35C1-CDG