Question: What is (are) Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ?
Answer: Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability. Some patients also have heart problems, diabetes insipidus, kidney problems and leukemia. It is caused by a mutation in the LYK5 gene. Seizures are difficult to treat and there is ongoing research for more effective medication.
Source: GARD

Question: What are the symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ?
Answer: What are the signs and symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyhydramnios, megalencephaly, and symptomatic epilepsy 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) Hyperplasia of midface 16/16 Hypertelorism 16/16 Large forehead 16/16 Long face 16/16 Muscular hypotonia 16/16 Polyhydramnios 16/16 Thick lower lip vermilion 16/16 Thick upper lip vermilion 16/16 Wide mouth 16/16 Wide nasal bridge 16/16 Macrocephaly 15/16 Premature birth 15/16 Atria septal defect 4/16 Diabetes insipidus 2/16 Nephrocalcinosis 2/16 Autosomal 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