syndromic intellectual disability neurofaciodigitorenal syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome https://www.malacards.org/card/neurofaciodigitorenal_syndrome MONDO:0009740 SCTID:725908007 OMIM:256690 UMLS:C0796088 Freire-Maia Pinheiro Opitz syndrome GARD:0003964 Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. MEDGEN:163212 Orphanet:2673 MESH:C537388 neurofaciodigitorenal syndrome Freire Maia-Pinheiro-Opitz syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability