has material basis in germline mutation in UBR1 syndromic intellectual disability congenital nervous system disorder hearing loss disorder autosomal recessive disease Johanson-Blizzard syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/johanson_blizzard_syndrome NORD:1311 GARD:0000080 Orphanet:2315 icd11.foundation:1427330812 JBS SCTID:75979009 UMLS:C0175692 DOID:14694 MESH:C535880 OMIM:243800 MEDGEN:59798 OMIM:260450 MESH:C564907 pancreatic insufficiency, combined exocrine MONDO:0009479 nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness ICD9:759.89 A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. Johanson-Blizzard syndrome Johanson-BLIZZARD syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete syndromic anorectal malformation obsolete syndromic hypothyroidism non-acquired combined pituitary hormone deficiency ectodermal dysplasia syndrome inherited auditory system disease hereditary neurological disease