Question: What are the symptoms of PEHO syndrome ?
Answer: What are the signs and symptoms of PEHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PEHO syndrome. 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 eye movement 90% Abnormality of movement 90% Abnormality of the palate 90% Cerebral cortical atrophy 90% Cognitive impairment 90% EEG abnormality 90% Epicanthus 90% External ear malformation 90% Full cheeks 90% Hyperreflexia 90% Macrotia 90% Malar flattening 90% Muscular hypotonia 90% Narrow forehead 90% Open mouth 90% Optic atrophy 90% Seizures 90% Short nose 90% Sleep disturbance 90% Tapered finger 90% Visual impairment 90% Anteverted nares 50% Aplasia/Hypoplasia of the cerebellum 50% Edema of the lower limbs 50% Gingival overgrowth 50% Hydrocephalus 50% Limitation of joint mobility 50% Microcephaly 50% Palpebral edema 50% Porencephaly 50% Recurrent respiratory infections 50% Ventriculomegaly 50% Abnormality of the hand - Autosomal recessive inheritance - Cerebellar atrophy - Developmental stagnation - Edema - Feeding difficulties in infancy - Hypsarrhythmia - Infantile encephalopathy - Intellectual disability, profound - Neuronal loss in central nervous system - Peripheral dysmyelination - Progressive microcephaly - Retrognathia - Severe muscular hypotonia - Tented upper lip vermilion - Undetectable visual evoked potentials - 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