The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of eye movement | 90% |
| Blue sclerae | 90% |
| Cognitive impairment | 90% |
| Deviation of finger | 90% |
| Dry skin | 90% |
| Eczema | 90% |
| Muscular hypotonia | 90% |
| Round face | 90% |
| Seizures | 90% |
| Short neck | 90% |
| Short palm | 90% |
| Autosomal recessive inheritance | - |
| Delayed speech and language development | - |
| Intrauterine growth retardation | - |
| Microdontia | - |
| Partial agenesis of the corpus callosum | - |
| Postnatal growth retardation | - |
| Widely spaced teeth | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
