has material basis in germline mutation in NFIA brain disorder brain malformations with or without urinary tract defects https://github.com/monarch-initiative/mondo/issues/5361 https://github.com/monarch-initiative/mondo/issues/5521 UMLS:C4478940 GARD:0027998 NFIA is one of the genes involved in the 1p31p32 microdeletion syndrome, which presents with very similar features. MONDO:0100478 A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. OMIM:613735 MEDGEN:1392440 hereditary neurological disease