Question: What are the symptoms of Neonatal adrenoleukodystrophy ?
Answer: What are the signs and symptoms of Neonatal adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal adrenoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of movement 90% Abnormality of the liver 90% Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Developmental regression 90% Dolichocephaly 90% EEG abnormality 90% High forehead 90% Hyperreflexia 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Nystagmus 90% Optic atrophy 90% Primary adrenal insufficiency 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Strabismus 90% Abnormality of neuronal migration 50% Abnormality of retinal pigmentation 50% Abnormality of the fontanelles or cranial sutures 50% Cataract 50% Macrocephaly 50% Ptosis 50% Single transverse palmar crease 50% Visual impairment 50% Abnormal facial shape - Adrenal insufficiency - Autosomal recessive inheritance - Elevated long chain fatty acids - Epicanthus - Esotropia - Frontal bossing - High palate - Intellectual disability - Low-set ears - Polar cataract - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD