has material basis in germline mutation in VPS13B congenital nervous system disorder Cohen syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6744 https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome https://www.malacards.org/card/cohen_syndrome Orphanet:193 COH1 Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. Cohen syndrome OMIM:216550 MONDO:0008999 DOID:0111590 MESH:C536438 icd11.foundation:1188737383 ICD9:759.89 MEDGEN:78539 GARD:0006126 MedDRA:10049066 NANDO:2200750 SCTID:56604005 UMLS:C0265223 NORD:986 cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness Chs1 constitutional neutropenia multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal recessive syndromic intellectual disability