has material basis in germline mutation in KAT6B Ohdo syndrome and variants syndromic disease hereditary disease endocrine system disorder blepharophimosis - intellectual disability syndrome, SBBYS type https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6651 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/ohdo_syndrome_sbbys_variant SCTID:699298009 NANDO:2200982 hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome GARD:0016618 Say-Barber-Biesecker-Young-Simpson syndrome MONDO:0011365 Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested. Orphanet:3047 DOID:0060290 SBBYSS syndrome ICD9:759.89 MEDGEN:350209 MESH:C536717 UMLS:C1863557 OMIM:603736 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:1200681 Ohdo syndrome, SBBYS variant SBBYSS