syndromic intellectual disability congenital nervous system disorder macrocephaly-spastic paraplegia-dysmorphism syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/fryns_macrocephaly MEDGEN:373933 Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. Orphanet:2429 MONDO:0010858 SCTID:716108004 GARD:0016598 Fryns macrocephaly UMLS:C1838281 MESH:C563963 OMIM:600302 multiple congenital anomalies/dysmorphic syndrome-intellectual disability hereditary spastic paraplegia