Disease #00136

Official abbreviation SBBYSS
Name Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, Ohdo syndrome)
OMIM ID 603736
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 38
Phenotype entries for this disease 16
Associated with 1 gene KAT6B
Associated tissues -
Disease features -
Remarks -


Individuals

38 entries on 1 page. Showing entries 1 - 38.
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00018483 - - Typical Say Barber Biesecker F - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018485 - - Say Barber Biesecker Study - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018486 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018488 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018491 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018492 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018493 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018494 - - - M - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018495 - - - M - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018496 - - - F no United Kingdom (Great Britain) - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018497 - - - F - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018498 - - - F - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018499 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018500 - - - M - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018501 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018502 - - - F - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018504 - - - F - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018505 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018506 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018507 - - Studied in Ulm - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018509 - - - - - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018515 - - - M - - - - 0 - - SBBYSS KAT6B KAT6B 1 1 Jill Clayton-Smith
00018516 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018517 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018518 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018519 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018520 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018521 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018522 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018523 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018524 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018525 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018526 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018535 - - - - ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018536 - Szakszon et al, AJMG 2013 - M ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018537 - Szakszon et al, AJMG 2013 - F ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018543 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
00018544 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS KAT6B KAT6B 1 1 Philippe Campeau
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