Question: What are the symptoms of PPM-X syndrome ?
Answer: What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X 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) Behavioral abnormality 90% Cognitive impairment 90% Hypertonia 90% Macroorchidism 90% EEG abnormality 50% Gait disturbance 50% Macrotia 50% Seizures 50% Abnormality of the cardiovascular system 7.5% Developmental regression 7.5% Scoliosis 7.5% Abnormality of the teeth - Ataxia - Babinski sign - Bruxism - Choreoathetosis - Delayed speech and language development - Drooling - Excessive salivation - Facial hypotonia - High palate - Hyperreflexia - Intellectual disability, mild - Microcephaly - Parkinsonism - Pes cavus - Psychosis - Short neck - Shuffling gait - Slow progression - Spastic gait - Tremor - X-linked recessive inheritance - 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