Overview
Griscelli syndrome type 1 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.
Grey eyelashes
Always present (100%)HP:0002227
Large clumps of pigment irregularly distributed along hair shaft
Always present (100%)HP:0004527
Melanin pigment aggregation in hair shafts
Always present (100%)HP:0002220
Silver-gray hair
Always present (100%)HP:0002218
White eyebrow
Always present (100%)HP:0002226
Abnormality of movement
Very frequent (80-99%)HP:0100022
Accumulation of melanosomes in melanocytes
Very frequent (80-99%)HP:0001008
Ataxia
Very frequent (80-99%)HP:0001251
Double vision
Very frequent (80-99%)HP:0000651
Epilepsy
Very frequent (80-99%)HP:0001250
Generalised decreased muscle tone
Very frequent (80-99%)HP:0001290
Hypopigmentation of the skin
Very frequent (80-99%)HP:0001010
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Iris hypopigmentation
Very frequent (80-99%)HP:0007730
Noninflammatory retina disease
Very frequent (80-99%)HP:0000488
Partial absent skin pigmentation
Very frequent (80-99%)HP:0007443
Premature graying of the hair
Very frequent (80-99%)HP:0002216
Spasticity and rigidity of muscles
Very frequent (80-99%)HP:0001276
White hair
Very frequent (80-99%)HP:0011364
Central hypotonia
Frequent (30-79%)HP:0001252
Hyperlipidemia
Frequent (30-79%)HP:0003077
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Recurrent inflammation of tonsils
Frequent (30-79%)HP:0011110
Abnormal deposits of calcium in the brain
Occasional (5-29%)HP:0002514
Related Conditions
Quick Facts
- SNOMED CT
- 1254946006
- UMLS CUI
- C1859194
- Fully Specified Name
- Hypopigmentation-immunodeficiency disease type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.