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Leucocyte adhesion deficiency - type 2

disorder
SNOMED 234583001CUI C0398739

Overview

Leucocyte adhesion deficiency - type 2 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Brachydactyly
Always present (100%)HP:0001156
Bulbous nasal tip
Always present (100%)HP:0000414
Disproportionately small hands
Always present (100%)HP:0200055
Hairline point
Always present (100%)HP:0000349
Prominent finger pads
Always present (100%)HP:0001212
Psychomotor development deficiency
Always present (100%)HP:0001263
Small feet
Always present (100%)HP:0001773
Speech and language difficulties
Always present (100%)HP:0000750
Abnormal isohemagglutinin level
Very frequent (80-99%)HP:0410292
Decreased body height
Very frequent (80-99%)HP:0004322
Increased total leukocyte count
Very frequent (80-99%)HP:0001974
Low number of red blood cells or haemoglobin
Very frequent (80-99%)HP:0001903
Neutrophilia
Very frequent (80-99%)HP:0011897
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Predisposition to infections
Very frequent (80-99%)HP:0002719
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Anxiety disease
Frequent (30-79%)HP:0000739
Autism
Frequent (30-79%)HP:0000717
Autism spectrum disorder
Frequent (30-79%)HP:0000729
Birth weight less than 10th percentile
Frequent (30-79%)HP:0001518
Bronchiolitis
Frequent (30-79%)HP:0011950
Cerebral atrophy
Frequent (30-79%)HP:0002059
Echologia
Frequent (30-79%)HP:0010529
Febrile seizure (within the age range of 3 months to 6 years)
Frequent (30-79%)HP:0002373
Intermittent fever
Frequent (30-79%)HP:0001954
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Mental retardation, severe
Frequent (30-79%)HP:0010864
Microcytic anemia
Frequent (30-79%)HP:0001935
OCD
Frequent (30-79%)HP:0000722
Seizures
Frequent (30-79%)HP:0001250

Quick Facts

SNOMED CT
234583001
UMLS CUI
C0398739
Fully Specified Name
Leukocyte adhesion deficiency - type 2 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.