has material basis in germline mutation in KPTN syndromic intellectual disability hereditary disease macrocephaly-developmental delay syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_recessive_41 https://www.malacards.org/card/macrocephaly_developmental_delay_syndrome intellectual disability, autosomal recessive type 41 mental retardation, autosomal recessive 41 DOID:0081206 MRT41 MONDO:0014289 OMIM:615637 UMLS:C3810225 Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally. mental retardation, autosomal recessive type 41 intellectual disability, autosomal recessive 41 Orphanet:397612 MEDGEN:816555 GARD:0017630 multiple congenital anomalies/dysmorphic syndrome-intellectual disability