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) |
| Abnormal electroretinogram | 90% |
| Abnormality of metabolism/homeostasis | 90% |
| Abnormality of visual evoked potentials | 90% |
| Cognitive impairment | 90% |
| Developmental regression | 90% |
| EEG abnormality | 90% |
| Gait disturbance | 90% |
| Hyperreflexia | 90% |
| Morphological abnormality of the central nervous system | 90% |
| Muscular hypotonia | 90% |
| Neurological speech impairment | 90% |
| Seizures | 90% |
| Sensorineural hearing impairment | 90% |
| Depressed nasal bridge | 50% |
| Epicanthus | 50% |
| Hepatomegaly | 50% |
| Hypertelorism | 50% |
| Low-set, posteriorly rotated ears | 50% |
| Myopia | 50% |
| Nystagmus | 50% |
| Optic atrophy | 50% |
| Respiratory insufficiency | 50% |
| Strabismus | 50% |
| Hand polydactyly | 7.5% |
| Hypertonia | 7.5% |
| Autosomal recessive inheritance | - |
| Babinski sign | - |
| Bilateral sensorineural hearing impairment | - |
| Brachycephaly | - |
| CNS demyelination | - |
| Decreased light- and dark-adapted electroretinogram amplitude | - |
| Diffuse hepatic steatosis | - |
| Dysphagia | - |
| Dystonia | - |
| Elevated hepatic transaminases | - |
| Frontal bossing | - |
| Infantile onset | - |
| Intellectual disability, progressive | - |
| Intellectual disability, severe | - |
| Inverted nipples | - |
| Irritability | - |
| Leukodystrophy | - |
| Low-set ears | - |
| Neonatal hypotonia | - |
| No social interaction | - |
| Pigmentary retinopathy | - |
| Severe global developmental delay | - |
| Tapetoretinal degeneration | - |
| Wide nasal bridge | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
The following diseases are related to Pseudoneonatal adrenoleukodystrophy. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
