Clinical Signs and Symptoms
ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone 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.
- EEG abnormality HP:0002353
- Global developmental delay HP:0001263
- Microcephaly HP:0000252
- Sensorineural hearing impairment HP:0000407
- Visual impairment HP:0000505
Very frequent
- Abnormality of brain morphology HP:0012443
- Absence seizure HP:0002121
- Absent speech HP:0001344
- Autistic behavior HP:0000729
- Cerebral hypomyelination HP:0006808
- Cerebral visual impairment HP:0100704
- Generalized myoclonic seizures HP:0002123
- Generalized tonic-clonic seizures HP:0002069
- Inability to walk HP:0002540
- Infantile muscular hypotonia HP:0008947
- Intellectual disability, moderate HP:0002342
- Intellectual disability, severe HP:0010864
- Poor eye contact HP:0000817
- Seizures HP:0001250
- Severe expressive language delay HP:0006863
- Severe receptive language delay HP:0011352
- Spasticity HP:0001257
Frequent
- Brain atrophy HP:0012444
- Broad eyebrow HP:0011229
- Cerebral cortical atrophy HP:0002120
- Congenital microcephaly HP:0011451
- Constipation HP:0002019
- Depressed nasal bridge HP:0005280
- EEG with frontal sharp slow waves HP:0011290
- Global brain atrophy HP:0002283
- High nonceruloplasmin-bound serum copper HP:0010838
- Highly arched eyebrow HP:0002553
- Hypoplasia of the corpus callosum HP:0002079
- Hypsarrhythmia HP:0002521
- Immunodeficiency HP:0002721
- Infantile spasms HP:0012469
- Limb hypertonia HP:0002509
- Long nose HP:0003189
- Neonatal hypotonia HP:0001319
- Retrognathia HP:0000278
- Thrombocytopenia HP:0001873
- Underdeveloped nasal alae HP:0000430
Occasional
- Atrial septal defect HP:0001631
- Exodeviation HP:0020049
- Gastrostomy tube feeding in infancy HP:0011471
- Limb dystonia HP:0002451
- Sacral hypertrichosis HP:0004532
- Scoliosis HP:0002650
- Self-injurious behavior HP:0100716
- Stereotypy HP:0000733
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.