Details of Disease | DrugMAP

General Information of Disease (ID: DISOAC2O)

Disease Name	Blepharophimosis - intellectual disability syndrome, SBBYS type
Synonyms	Young-Simpson syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Ohdo syndrome, SBBYS variant; SBBYSS; SBBYSS syndrome; hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; blepharophimosis - intellectual disability syndrome, SBBYS type
Definition	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.
Disease Hierarchy	DISRGY2N: Endocrine disease DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS0P6KV: Ohdo syndrome and variants DISOAC2O: Blepharophimosis - intellectual disability syndrome, SBBYS type
Disease Identifiers	MONDO ID MONDO_0011365 MESH ID C536717 UMLS CUI C1863557 OMIM ID 603736 MedGen ID 350209 Orphanet ID 3047 SNOMED CT ID 699298009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KAT6B	TTH4VJL	Strong	Genetic Variation	[1]
KAT6B	TTH4VJL	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KAT6B	OTMUDTAH	Definitive	Autosomal dominant	[2]
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References

1	Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?.Clin Genet. 2019 Feb;95(2):253-261. doi: 10.1111/cge.13127. Epub 2018 Jan 25.
2	Further delineation of the KAT6B molecular and phenotypic spectrum. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26.