Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseasesClinical Signs and Symptoms
ORPHA:46059 Lathosterolosis
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.
- Cataract HP:0000518
- Global developmental delay HP:0001263
- Hypoplasia of penis HP:0008736
- Microcephaly HP:0000252
- Postaxial foot polydactyly HP:0001830
- Specific learning disability HP:0001328
Very frequent
- Abnormal platelet morphology HP:0011875
- Abnormality of the thoracic spine HP:0100711
- Anisopoikilocytosis HP:0004823
- Anteverted nares HP:0000463
- Biparietal narrowing HP:0004422
- Bulbous nose HP:0000414
- Cerebellar cortical atrophy HP:0008278
- Cerebral calcification HP:0002514
- Chiari malformation HP:0002308
- Downslanted palpebral fissures HP:0000494
- Downturned corners of mouth HP:0002714
- Epicanthus HP:0000286
- Failure to thrive HP:0001508
- Full cheeks HP:0000293
- Gingival overgrowth HP:0000212
- Hearing impairment HP:0000365
- Hepatic failure HP:0001399
- Hepatomegaly HP:0002240
- High palate HP:0000218
- Horseshoe kidney HP:0000085
- Hypotonia HP:0001252
- Intrahepatic cholestasis HP:0001406
- Intrauterine growth retardation HP:0001511
- Long philtrum HP:0000343
- Meningocele HP:0002435
- Microcornea HP:0000482
- Micrognathia HP:0000347
- Myoclonus HP:0001336
- Narrow forehead HP:0000341
- Opacification of the corneal stroma HP:0007759
- Postaxial hand polydactyly HP:0001162
- Prominent metopic ridge HP:0005487
- Ptosis HP:0000508
- Seizure HP:0001250
- Short nose HP:0003196
- Sloping forehead HP:0000340
- Talipes HP:0001883
- Thrombocytopenia HP:0001873
- Toe syndactyly HP:0001770
Frequent
Additional information
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.