has material basis in germline mutation in TRIM8 hereditary disease focal segmental glomerulosclerosis and neurodevelopmental syndrome https://github.com/monarch-initiative/mondo/issues/3530 https://www.malacards.org/card/focal_segmental_glomerulosclerosis_and_neurodevelopmental_syndrome MEDGEN:1794148 MONDO:0100111 FSGSNEDS OMIM:619428 A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed. UMLS:C5561938