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 dental enamel | 90% |
| Cerebral calcification | 90% |
| Cognitive impairment | 90% |
| Craniofacial hyperostosis | 90% |
| Delayed eruption of teeth | 90% |
| Developmental regression | 90% |
| Hearing impairment | 90% |
| Hypertelorism | 90% |
| Macrocephaly | 90% |
| Nystagmus | 90% |
| Optic atrophy | 90% |
| Recurrent fractures | 90% |
| Rough bone trabeculation | 90% |
| Ventricular septal defect | 90% |
| Abducens palsy | - |
| Abnormal metaphyseal trabeculation | - |
| Absent frontal sinuses | - |
| Absent paranasal sinuses | - |
| Autosomal recessive inheritance | - |
| Blindness | - |
| Broad femoral neck | - |
| Broad ribs | - |
| Clavicular sclerosis | - |
| Delayed closure of the anterior fontanelle | - |
| Dermal atrophy | - |
| Diaphyseal thickening | - |
| Disproportionate short stature | - |
| Facial paralysis | - |
| Flared metaphysis | - |
| Frontal bossing | - |
| High palate | - |
| Hypoplastic vertebral bodies | - |
| Increased intervertebral space | - |
| Increased susceptibility to fractures | - |
| Intellectual disability | - |
| Irregular vertebral endplates | - |
| Narrow chest | - |
| Narrow iliac wings | - |
| Natal tooth | - |
| Obstructive sleep apnea | - |
| Oligodontia | - |
| Osteopenia | - |
| Parietal bossing | - |
| Platyspondyly | - |
| Premature loss of teeth | - |
| Progressive bowing of long bones | - |
| Prominent forehead | - |
| Round face | - |
| Sclerosis of hand bone | - |
| Sclerosis of skull base | - |
| Sclerotic scapulae | - |
| Seizures | - |
| Short diaphyses | - |
| Short ribs | - |
| Short sternum | - |
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