Clinical Signs and Symptoms
ORPHA:352649 Brain dopamine-serotonin vesicular transport disease
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.
- Abnormality of coordination HP:0011443
- Abnormality of eye movement HP:0000496
- Abnormality of the foot HP:0001760
- Abnormality of the vasculature HP:0002597
- Ataxia HP:0001251
- Cognitive impairment HP:0100543
- Dysarthria HP:0001260
- Dysdiadochokinesis HP:0002075
- Dystonia HP:0001332
- Fatigue HP:0012378
- Gait disturbance HP:0001288
- Generalized hypotonia HP:0001290
- Global developmental delay HP:0001263
- Hyperhidrosis HP:0000975
- Hypertonia HP:0001276
- Hypomimic face HP:0000338
- Inappropriate crying HP:0030215
- Limb dystonia HP:0002451
- Muscular hypotonia of the trunk HP:0008936
- Nasal speech HP:0001611
- Oculogyric crisis HP:0010553
- Orofacial dyskinesia HP:0002310
- Parkinsonism HP:0001300
- Poor head control HP:0002421
- Postnatal microcephaly HP:0005484
- Ptosis HP:0000508
- Shuffling gait HP:0002362
- Sleep disturbance HP:0002360
- Spastic tetraparesis HP:0001285
- Stridor HP:0010307
- Tremor HP:0001337
Specialised Social Services
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.