has material basis in germline mutation in OFD1 hereditary disease Simpson-Golabi-Behmel syndrome type 2 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/simpson_golabi_behmel_syndrome_type_2 MESH:C564567 Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive OFD1 Simpson-Golabi-Behmel syndrome DOID:0080342 UMLS:C1846175 MONDO:0010265 OMIM:300209 Orphanet:79022 Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. lethal variant of Simpson-Golabi-Behmel syndrome GARD:0024715 Simpson-Golabi-Behmel syndrome caused by mutation in OFD1 SGBS2 MEDGEN:337527 Simpson-Golabi-Behmel syndrome