disease has basis in dysfunction of OFD1 Simpson-Golabi-Behmel syndrome type 2 DOID:0080342 ICD10:Q87.3 MESH:C564567 MONDO:0010265 OFD1 Simpson-Golabi-Behmel syndrome OMIM:300209 Orphanet:79022 SGBS2 Sgbs2 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. Simpson-Golabi-Behmel syndrome caused by mutation in OFD1 Simpson-Golabi-Behmel syndrome, type 2 UMLS:C1846175 lethal variant of Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome