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 44
Phenotype entries for this disease 16
Associated with 1 gene KAT6B
Associated tissues -
Disease features -
Remarks -


Individuals

44 entries on 1 page. Showing entries 1 - 44.
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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 Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cryptorchidism; Hypospadias; Height 50 pctile; Weight 25 pctile; OFC <3 pctile; ; KAT6B KAT6B 1 1 Philippe Campeau
00018517 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 0.4 pctile; Hypotonia; Learning Disability; Feeding problems; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias; Height 25 pctile; Weight 25 pctile; OFC 2 pctile; KAT6B KAT6B 1 1 Philippe Campeau
00018518 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Heart Defect; Cryptorchidism; Height 50 pctile; Weight 50 pctile; OFC 2 pctile; KAT6B KAT6B 1 1 Philippe Campeau
00018519 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Lacrimal ductabn.; Thyroid abnormal; Heart Defect; Height 9 pctile; Weight 75 pctile; OFC 91 pctile KAT6B KAT6B 1 1 Philippe Campeau
00018520 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias; KAT6B KAT6B 1 1 Philippe Campeau
00018521 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; KAT6B KAT6B 1 1 Philippe Campeau
00018522 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Lacrimal ductabn.; Cleft palate; Heart Defect; Height 2 pctile; Weight 9 pctile; OFC 2 to 9 pctile; KAT6B KAT6B 1 1 Philippe Campeau
00018523 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Height 2 to 9 pctile; Weight 50 pctile; OFC 50-75 pctile; KAT6B KAT6B 1 1 Philippe Campeau
00018524 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Cryptorchidism; Height 25-50 pctile; Weight 98 pctile; OFC 25-50 pctile; KAT6B KAT6B 1 1 Philippe Campeau
00018525 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cleft palate; Height 50 pctile; Weight 75 pctile; OFC <50 pctile; KAT6B KAT6B 1 1 Philippe Campeau
00018526 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Hypotonia; Feeding problems; Dental anomalies; Thyroid abnormal; Height 25 pctile; Weight 25 pctile; OFC 25 pctile; 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 Small for gestational age, patent foramen ovale, gastrectasia, kidney lithiasis. developmental delay, severe hypotonia, feeding difficulties, urinary infections, and primary hypothyroidism. length <3rd centile, weight 3rd centile, and OFC 5th centile. Immobile face, a broad forehead with slight biparietal narrowing, sparse eyebrows and eyelashes, blepharophimosis, telecanthus, a broad and flat nasal bridge, a short nose with a bulbous nasal tip, a long philtrum, thin lip vermilion, and micrognathia. Ears posteriorly angulated, large, and apparently low-set. Broad and short neck. High palate. Fingers tapering with clinodactyly of the 5th fingers. The length of the middle finger was at the 25th centile while both thumbs appeared long. Bilateral cryptorchidism. KAT6B KAT6B 1 1 Philippe Campeau
00018537 - Szakszon et al, AJMG 2013 - F ? ? (unknown) ? - 0 - - SBBYSS failure to thrive, hypotonia, cleft palate, and developmental delay. Round face, bilateral blepharophimosis, ptosis, apparently low-set and short ears with overfolded helix, prominent crus helix and antihelix, stenotic external ear canals, hypertelorism, low nasal bridge, long philtrum, thin lip; vermilion, and dental anomalies. The proximal phalanx of the thumbs was long. No visceral malformation; was detected on ultrasound examinations. She had primary hypothyroidism. Hearing impairment found by auditory steady state responses (ASSR) was mild and she did not require hearing aids. Motor and intellectual; development was severely delayed. IQ 38, severe intellectual disability. Brain MRI revealed delayed myelination and disruption of tracts in the periventricular white matter [Szakszon et al., 2011]. At 4 years, the bony islands of the patellae have not yet appeared, consistent with delayed ossification. KAT6B KAT6B 1 1 Philippe Campeau
00018543 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Mask-like facial appearance; Birth weight 75 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; KAT6B KAT6B 1 1 Philippe Campeau
00018544 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS Birth weight 24 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Thyroid abnormal; Height 25 pctile; Weight 50 pctile; OFC 9 pctile; KAT6B KAT6B 1 1 Philippe Campeau
00164738 P1 - - M no Spain White 11y 0 - - SBBYSS - - - 0 1 Alejandro Brea-Fernández
00164739 P2 - - M no Spain White 06y 0 - - SBBYSS - - - 0 1 Alejandro Brea-Fernández
00176986 - PubMed: [Lonardo 2017] GPS and SBBYSS features present M no - - - 0 - - SBBYSS - - KAT6B 1 1 Philippe Campeau
00176987 - PubMed: [Lundsgaard 2017 ] - F no - - - 0 - - SBBYSS - KAT6B KAT6B 1 1 Philippe Campeau
00176990 - PubMed: [Vlckova 2015] - F no - - - 0 - - GTPTS, SBBYSS - - KAT6B 1 1 Philippe Campeau
00176993 - PubMed: Li 2017 - M yes - - - 0 - - SBBYSS - KAT6B KAT6B 1 1 Philippe Campeau
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