Question: What are the symptoms of X-linked lissencephaly with abnormal genitalia ?
Answer: What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. 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 neuronal migration 90% Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Cryptorchidism 90% Hypoplasia of penis 90% Microcephaly 90% Seizures 90% Hypohidrosis 50% Malabsorption 50% Muscular hypotonia 50% Ventriculomegaly 50% Aganglionic megacolon 7.5% Exocrine pancreatic insufficiency 7.5% Frontal bossing 7.5% Hypertonia 7.5% Patent ductus arteriosus 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Decreased testicular size - Diarrhea - Duane anomaly - Feeding difficulties in infancy - Gliosis - High forehead - High palate - Hyperreflexia - Lissencephaly - Long philtrum - Long upper lip - Low-set ears - Micropenis - Pachygyria - Prominent nasal bridge - Severe global developmental delay - Spasticity - Specific learning disability - Wide anterior fontanel - Wide nasal bridge - X-linked 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