Disease #00136 (SBBYSS (Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, Ohdo syndrome)), OMIM:603736)

Official abbreviation	SBBYSS
Name	Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, Ohdo syndrome)
OMIM ID	603736
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	66
Phenotype entries for this disease	17
Associated with 1 gene	KAT6B
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-05-27 16:25:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
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66 entries on 1 page. Showing entries 1 - 66.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00018483	-	-	Typical Say Barber Biesecker	F	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018485	-	-	Say Barber Biesecker Study	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018486	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018488	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018491	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018492	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018493	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018494	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018495	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018496	-	-	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018497	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018498	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018499	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018500	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018501	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018502	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018504	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018505	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018506	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018507	-	-	Studied in Ulm	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018509	-	-	-	-	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018515	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Jill Clayton-Smith
00018516	-	PubMed: Clayton-Smith et al.	-	M	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	-	-	-	-	?	-	?	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Philippe Campeau
00018536	-	Szakszon et al, AJMG 2013	-	M	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	?	-	?	-	-	-	-	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	-	-	-	SBBYSS	-	-	KAT6B	1	1	Alejandro Brea-Fernández
00164739	P2	-	-	M	no	Spain	White	06y	-	-	-	SBBYSS	-	-	KAT6B	1	1	Alejandro Brea-Fernández
00176986	-	PubMed: Lonardo 2017]	GPS and SBBYSS features present	M	no	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00176987	-	PubMed: Lundsgaard 2017 ]	-	F	no	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Philippe Campeau
00176993	-	PubMed: Li 2017	-	M	yes	-	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Philippe Campeau
00218352	-	-	-	M	no	Argentina	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Marisol Delea
00295784	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295785	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295786	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295787	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295788	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295789	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295790	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295791	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295792	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295793	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295794	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295795	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295796	-	-	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295797	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295806	III.4	PubMed: Yates 2019	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295807	II.4	Data from Infevers database ID: [30353918]	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295808	III.5	PubMed: Yates 2019	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295809	III.6	PubMed: Yates 2019	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295810	III.3	Data from Infevers database ID: [30353918]	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295811	II.2	PubMed: Yates 2019	-	F	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00295813	-	-	-	M	-	-	-	-	-	-	-	SBBYSS	-	-	KAT6B	1	1	Philippe Campeau
00306198	96	-	-	F	-	China	-	-	-	-	-	SBBYSS	-	KAT6B	KAT6B	1	1	Sha Hong

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Global Variome shared LOVD

ANKS3 (ankyrin repeat and sterile alpha motif domai...)