has material basis in germline mutation in ASXL1 congenital nervous system disorder Bohring-Opitz syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome https://www.malacards.org/card/bohring_opitz_syndrome SCTID:720565000 GARD:0010140 UMLS:C0796232 Orphanet:97297 Bohring-Opitz syndrome Bohring syndrome OMIM:605039 MONDO:0011510 BOPS C-like syndrome Oberklaid-Danks syndrome Bos syndrome MESH:C537419 Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. Opitz trigonocephaly-like syndrome NCIT:C131533 MEDGEN:208678 NORD:1981 multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal dominant syndromic intellectual disability