Clinical Signs and Symptoms
ORPHA:381 Griscelli syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Hypopigmented skin patches HP:0001053
- Premature graying of hair HP:0002216
- Silver-gray hair HP:0002218
- White hair HP:0011364
Very frequent
- Abnormal circulating lipid concentration HP:0003119
- Abnormality of neutrophils HP:0001874
- Decreased antibody level in blood HP:0004313
- Immunodeficiency HP:0002721
- Leukopenia HP:0001882
- Lymphadenopathy HP:0002716
- Reduced tendon reflexes HP:0001315
- Thrombocytopenia HP:0001873
Frequent
- Abnormal eyebrow morphology HP:0000534
- Abnormal eyelash morphology HP:0000499
- Abnormality of movement HP:0100022
- Ascites HP:0001541
- Ataxia HP:0001251
- Bone marrow hypocellularity HP:0005528
- Cranial nerve paralysis HP:0006824
- Encephalocele HP:0002084
- Fever HP:0001945
- Global developmental delay HP:0001263
- Hepatitis HP:0012115
- Hepatomegaly HP:0002240
- Hydrocephalus HP:0000238
- Intellectual disability HP:0001249
- Iris hypopigmentation HP:0007730
- Jaundice HP:0000952
- Muscular hypotonia HP:0001252
- Nystagmus HP:0000639
- Pedal edema HP:0010741
- Pyloric stenosis HP:0002021
- Seizures HP:0001250
- Short stature HP:0004322
- Spasticity HP:0001257
- Splenomegaly HP:0001744
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.