Arachnodactyly or camptodactyly were noted in all patients. Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. [pesquisa.bvsalud.org]

Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review literature. Seizure. 2010;19:132-135. Dietrich A, Matejas V, Bitzan M, et al. [rarediseases.org]

These findings, occurring in association with anemia and an abnormal accumulation of fluid that causes swelling (edema), may indicate a diagnosis of nephrotic syndrome. [rarediseases.org]

Such gastroesophageal reflux may cause affected infants to spit up and/or vomit repeatedly; in some cases, vomiting may be particularly forceful (projectile vomiting). [rarediseases.org]

(edema), particularly around the eye sockets (periorbital edema) and in the lowermost parts of the body, such as the ankles (dependent edema). [rarediseases.org]

Physical features may include malformations of the head and facial (craniofacial) area including microcephaly, which can be present at birth or develop shortly after birth, an abnormally high, narrow forehead and unusually small jaw bones (micrognathia [rarediseases.org]

sitting up, crawling, walking, and other developmental milestones) and a profound delay in the attainment of skills requiring the coordination of muscular and mental activity (psychomotor retardation). [rarediseases.org]

Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]

Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. All patients developed early-onset nephrotic syndrome. [pesquisa.bvsalud.org]

Neurological features may include a lack of response to stimuli in the environment and/or episodes of uncontrolled electrical disturbances in the brain that may cause convulsions, spasms, and/or other symptoms (seizures). [rarediseases.org]

Urinary analysis may reveal small traces of blood (hematuria) and abnormally high levels of protein (proteinuria), specifically albumin (albuminuria), in the urine. [rarediseases.org]