Clinical Signs and Symptoms
ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction 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.
- Cerebral atrophy HP:0002059
- Hyperkinetic movements HP:0002487
- Sensorimotor neuropathy HP:0007141
Very frequent
- Abnormal myelination HP:0012447
- Absent speech HP:0001344
- Cerebellar atrophy HP:0001272
- Chronic constipation HP:0012450
- Decreased CSF 5-hydroxyindolacetic acid HP:0025455
- Decreased CSF albumin HP:0025458
- Decreased CSF biopterin level HP:0040209
- Decreased CSF homovanillic acid HP:0003785
- Decreased CSF protein HP:0025457
- Decreased LDL cholesterol concentration HP:0003563
- Decreased lacrimation HP:0000633
- Developmental regression HP:0002376
- EEG abnormality HP:0002353
- Elevated hepatic transaminase HP:0002910
- Failure to thrive HP:0001508
- Generalized myoclonic seizures HP:0002123
- Global developmental delay HP:0001263
- Hypotriglyceridemia HP:0012153
- Inability to walk HP:0002540
- Increased susceptibility to fractures HP:0002659
- Intellectual disability HP:0001249
- Intellectual disability, profound HP:0002187
- Obstructive sleep apnea HP:0002870
- Poor speech HP:0002465
- Small for gestational age HP:0001518
Frequent
- Absence seizure HP:0002121
- Achilles tendon contracture HP:0001771
- Acromesomelia HP:0003086
- Action tremor HP:0002345
- Astasia HP:0020037
- Athetosis HP:0002305
- Atonic seizure HP:0010819
- Axonal loss HP:0003447
- Chorea HP:0002072
- Congenital hip dislocation HP:0001374
- Corneal scarring HP:0000559
- Coxa valga HP:0002673
- Decreased resting energy expenditure HP:0012340
- Delayed ability to sit HP:0025336
- Delayed myelination HP:0012448
- Delayed skeletal maturation HP:0002750
- Dystonia HP:0001332
- Facial hypotonia HP:0000297
- Fatigable weakness of speech muscles HP:0030194
- Focal tonic seizures HP:0011167
- Gelastic seizures HP:0010821
- Generalized aminoaciduria HP:0002909
- Gliosis HP:0002171
- Hepatomegaly HP:0002240
- Hip dysplasia HP:0001385
- Hypofibrinogenemia HP:0011900
- Hyporeflexia HP:0001265
- Impaired oral bolus formation HP:0031146
- Impaired oropharyngeal swallow response HP:0031162
- Infantile spasms HP:0012469
- Joint hypermobility HP:0001382
- Limb joint contracture HP:0003121
- Lingual dystonia HP:0031008
- Micronodular cirrhosis HP:0001413
- Microvesicular hepatic steatosis HP:0001414
- Myoclonus HP:0001336
- Nodular regenerative hyperplasia of liver HP:0011954
- Oculomotor apraxia HP:0000657
- Poor head control HP:0002421
- Postnatal microcephaly HP:0005484
- Recurrent respiratory infections HP:0002205
- Reduced bone mineral density HP:0004349
- Reduced factor XI activity HP:0001929
- Reduced protein C activity HP:0005543
- Reduced prothrombin activity HP:0012201
- Sclerosis of finger phalanx HP:0100899
- Scoliosis HP:0002650
- Shoulder dislocation HP:0003834
- Splenomegaly HP:0001744
- Staring gaze HP:0025401
- Suck reflex HP:0030906
- Tarsal sclerosis HP:0031051
- Ventriculomegaly HP:0002119
Occasional
- Bilateral ptosis HP:0001488
- Cone/cone-rod dystrophy HP:0000548
- Corneal neovascularization HP:0011496
- Exotropia HP:0000577
- Lagopthalmos HP:0030001
- Optic atrophy HP:0000648
- Optic disc pallor HP:0000543
- Pigmentary retinopathy HP:0000580
Rare
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.