Clinical Signs and Symptoms
ORPHA:46 Adenylosuccinate lyase deficiency
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.
- Abnormal facial shape HP:0001999
- Absent speech HP:0001344
- Anteverted nares HP:0000463
- Brachycephaly HP:0000248
- Flat occiput HP:0005469
- Generalized hypotonia HP:0001290
- Hypointensity of cerebral white matter on MRI HP:0007103
- Intellectual disability HP:0001249
- Long philtrum HP:0000343
- Low-set ears HP:0000369
- Microcephaly HP:0000252
- Prominent metopic ridge HP:0005487
- Seizures HP:0001250
- Severe global developmental delay HP:0011344
- Short nose HP:0003196
- Smooth philtrum HP:0000319
- Thin upper lip vermilion HP:0000219
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.