Clinical Signs and Symptoms
ORPHA:309282 Alpha-mannosidosis, infantile form
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 enzyme/coenzyme activity HP:0012379
- Abnormality of skeletal morphology HP:0011842
- Delayed speech and language development HP:0000750
- Dysostosis multiplex HP:0000943
- Immunodeficiency HP:0002721
- Intellectual disability HP:0001249
- Oligosacchariduria HP:0010471
- Otitis media HP:0000388
- Recurrent infections HP:0002719
- Specific learning disability HP:0001328
Very frequent
- Asthenia HP:0025406
- Ataxia HP:0001251
- Cataract HP:0000518
- Coarse facial features HP:0000280
- Facial shape deformation HP:0011334
- Hepatosplenomegaly HP:0001433
- Hypermetropia HP:0000540
- Hypertelorism HP:0000316
- Intellectual disability, mild HP:0001256
- Mixed hearing impairment HP:0000410
- Motor delay HP:0001270
- Muscular hypotonia HP:0001252
- Myopathy HP:0003198
- Myopia HP:0000545
- Pneumonia HP:0002090
- Recurrent gastroenteritis HP:0031123
- Short attention span HP:0000736
- Strabismus HP:0000486
Frequent
- Abnormality of the sella turcica HP:0002679
- Abnormality of the sphenoid sinus HP:0430022
- Anxiety HP:0000739
- Arnold-Chiari malformation HP:0002308
- Astigmatism HP:0000483
- Avascular necrosis HP:0010885
- Behavioral abnormality HP:0000708
- Bilateral coxa valga HP:0010665
- Bilateral talipes equinovarus HP:0001776
- Brachycephaly HP:0000248
- Broad forehead HP:0000337
- Cerebellar atrophy HP:0001272
- Cerebral cortical atrophy HP:0002120
- Clumsiness HP:0002312
- Confusion HP:0001289
- Corneal opacity HP:0007957
- Cortical thickening of long bone diaphyses HP:0005791
- Cranial hyperostosis HP:0004437
- Craniosynostosis HP:0001363
- Delusions HP:0000746
- Depressed nasal bridge HP:0005280
- Depressivity HP:0000716
- Disproportionate tall stature HP:0001519
- Drowsiness HP:0002329
- Facial hypotonia HP:0000297
- Flat face HP:0012368
- Genu valgum HP:0002857
- Hallucinations HP:0000738
- Highly arched eyebrow HP:0002553
- Hypoplastic inferior ilia HP:0008821
- Infantile axial hypotonia HP:0009062
- Joint laxity HP:0001388
- Joint stiffness HP:0001387
- Macrocephaly HP:0000256
- Macroglossia HP:0000158
- Mandibular prognathia HP:0000303
- Mitral regurgitation HP:0001653
- Optic disc pallor HP:0000543
- Osteolysis HP:0002797
- Osteopenia HP:0000938
- Pancytopenia HP:0001876
- Pectus carinatum HP:0000768
- Pectus excavatum HP:0000767
- Platyspondyly HP:0000926
- Prominent forehead HP:0011220
- Proptosis HP:0000520
- Sensorineural hearing impairment HP:0000407
- Short neck HP:0000470
- Soft skin HP:0000977
- Spastic paraplegia HP:0001258
- Subcortical cerebral atrophy HP:0012157
- Talipes valgus HP:0004684
- Thickened calvaria HP:0002684
- Thickened ribs HP:0000900
- Umbilical hernia HP:0001537
- Widely spaced teeth HP:0000687
Occasional
- Aortic regurgitation HP:0001659
- Communicating hydrocephalus HP:0001334
- Loss of speech HP:0002371
- Recurrent urinary tract infections HP:0000010
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.