MCID: OHD002
MIFTS: 16

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

MalaCards integrated aliases for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant:

Name: Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 25
Blepharophimosis and Mental Retardation Syndrome, Say-Barber/biesecker/young-Simpson Type 25
Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/biesecker/young-Simpson Type 25
Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome 25
Say-Barber-Biesecker-Young-Simpson Syndrome 25
Ohdo Syndrome, Say-Barber-Biesecker Variant 25
Sbbys Variant of Ohdo Syndrome 25
Ohdo Syndrome, Sbbys Variant 25
Young-Simpson Syndrome 25
Young Simpson Syndrome 71
Bmrs Sbbys 25
Sbbyss 25

Classifications:



External Ids:

UMLS 71 C1863557

Summaries for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Genetics Home Reference : 25 The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Males with the SBBYS variant of Ohdo syndrome typically have undescended testes (cryptorchidism). Females with this condition have normal genitalia. Missing or underdeveloped patellae is the most common skeletal abnormality associated with the SBBYS variant of Ohdo syndrome. Affected individuals also have joint stiffness involving the hips, knees, and ankles that can impair movement. Although joints in the lower body are stiff, joints in the arms and upper body may be unusually loose (lax). Many people with this condition have long thumbs and first (big) toes. The SBBYS variant of Ohdo syndrome is also associated with delayed development and intellectual disability, which are often severe. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties. The SBBYS variant of Ohdo syndrome is characterized by a mask-like, non-expressive face. Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and abnormalities of the tear (lacrimal) glands. About one-third of affected individuals are born with an opening in the roof of the mouth called a cleft palate. The SBBYS variant of Ohdo syndrome can also be associated with heart defects and dental problems.

MalaCards based summary : Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, also known as blepharophimosis and mental retardation syndrome, say-barber/biesecker/young-simpson type, is related to ohdo syndrome, sbbys variant and ohdo syndrome. Affiliated tissues include heart, eye and testes.

Related Diseases for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Graphical network of the top 20 diseases related to Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant:



Diseases related to Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Symptoms & Phenotypes for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Drugs & Therapeutics for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Search Clinical Trials , NIH Clinical Center for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Genetic Tests for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Anatomical Context for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

MalaCards organs/tissues related to Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant:

40
Heart, Eye, Testes

Publications for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Articles related to Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant:

(show all 29)
# Title Authors PMID Year
1
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome. 61
30921092 2020
2
[A case of SBBYSS syndrome caused by KAT6B gene variant]. 61
31302922 2019
3
De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment. 61
31326210 2019
4
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? 61
28857140 2019
5
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. 61
30569622 2019
6
KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup). 61
31871732 2019
7
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. 61
29226580 2018
8
Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome. 61
28710305 2017
9
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family. 61
28758091 2017
10
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. 61
28426343 2017
11
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. 61
27452416 2017
12
De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome. 61
28232779 2017
13
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. 61
26334766 2015
14
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes. 61
26370006 2015
15
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. 61
23436491 2013
16
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. 61
22715153 2012
17
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 61
22077973 2011
18
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 61
21567902 2011
19
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 61
19659891 2009
20
Anesthetic managements for repair of atrial septal defect in a patient with Young-Simpson Syndrome: A case report. 61
30625728 2009
21
Congenital hypothyroidism in Young-Simpson syndrome. 61
19189705 2008
22
Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome? 61
18470891 2008
23
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. 61
16700052 2006
24
[Anesthetic management of a patient with Young-Simpson syndrome]. 61
12481459 2002
25
[Young-Simpson syndrome]. 61
11529049 2001
26
Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis. 61
10602125 2000
27
Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. 61
10213038 1999
28
A Japanese boy with Young-Simpson syndrome. 61
9316295 1997
29
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). 61
8474111 1993

Variations for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Expression for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Search GEO for disease gene expression data for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.

Pathways for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

GO Terms for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Sources for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

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