Disease #05213 (BAMS (arhinia, choanal atresia, microphthalmia, Bosma type (BAMS)), OMIM:603457)

Official abbreviation	BAMS
Name	arhinia, choanal atresia, microphthalmia, Bosma type (BAMS)
OMIM ID	603457
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	51
Phenotype entries for this disease	51
Associated with 1 gene	SMCHD1
Associated tissues	eyes;nose
Disease features	-
Remarks	-
Date created	2017-01-13 12:01:02 +01:00 (CET)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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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.

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Example	Matches
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51 entries on 1 page. Showing entries 1 - 51.

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
00095254	-	PubMed: Gordon 2017, Journal: Gordon 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	yes	Morocco	-	-	-	-	-	BAMS	complete arhinia; microcorneas and corneal opacities, Deformed pupils, Globulous cataract (bilateral), Ectopic lens (R), Ectopic pupil (L), Primitive vitreous persistence (R), Bilateral microphthalmia, Bilateral esotropia, Limited visual acuity, Hypoplasia of the optic nerves; Hypertelorism, Absence of the nasal cavity, nasal bones and of cartilaginous nasal structures, Agenesis of the maxillary, frontal, sphenoidal and ethmoidal sinuses, Hypoplasia of the ethmoid and maxilla, Preauricular sinus (R); normal reproductive system; normal growth; normal psychomotor development; absence of olfactory bulbs and sulci	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095255	-	PubMed: Gordon 2017, Journal: Gordon 2017, PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	F	no	Germany	-	-	-	-	-	BAMS	complete arhinia; microphthalmia, bilateral strabismus; hypertelorism, High arched palate, Choanal atresia, Absent nasolacrimal ducts; delayed menstruation requiring hormone induction at puberty; normal growth; normal psychomotor development	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095256	-	PubMed: Gordon 2017, Journal: Gordon 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	no	-	Africa, north	-	-	-	-	BAMS	complete arhinia; normal eyes; absence of the nasal cavity, the nasal spine of the frontal bone,the nasal bones, the vomer and the conchae, midline cleft of the cribriform plate, absence of central incisor(s); normal growth; normal psychomotor development; olfactory bulb agenesis	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095257	-	PubMed: Gordon 2017, Journal: Gordon 2017, PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Ireland	-	-	-	-	-	BAMS	complete arhinia; eye coloboma (L) involving the disc, lens and retina, cataract; bilateral bony choanal atresia. Hypoplasia of maxillary sinuses, mild hypertelorism; normal growth; delayed psychomotor development; small apical ventricular septal defect	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095258	-	PubMed: Gordon 2017, Journal: Gordon 2017, PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	no	China	-	-	-	-	-	BAMS	arhinia; microphthalmia (R) with severe visual impairment, microphthalmia (L) with sclerocornea; midface hypoplasia, bifid philtral region, small mouth, high palate with soft palate cleft, small preauricular pit (R), hypoplasia of maxillary sinus, nuchal oedema, hypoplasia of nasolacrimal duct (L); micropenis, normal testes, hypogonadotropic hypogonadism; at birth, weight 25th%, head circumference 75th%, length >99th%; growth delayed, weight and height just over 9th%; severe learning difficulties; moderate persistent ductus arteriosus, and tiny persistent foramen ovale at birth	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095259	-	PubMed: Gordon 2017, Journal: Gordon 2017,PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	no	Scotland	-	-	-	-	-	BAMS	complete arhinia ; chronic epiphora. Cataract (R); facial asymmetry. Mid-face hypoplasia; micropenis. Bilateral undescended testes. Low gonadatropins; has been started on testosterone supplements; height delayed. Weight and OFC normal; learning difficulties; transaminitis associated with hypoalbuminaemia and peripheral oedema, with diffuse echogenic liver consistent with fatty infiltration. Bronchiectasis, fixed flexion contractures hip/knees	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095260	-	PubMed: Gordon 2017, Journal: Gordon 2017, PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	no	Japan	-	-	-	-	-	BAMS	complete arhinia ; bilateral microphthalmia. Coloboma of the iris; midface hypoplasia. High arched palate. Hypertelorism. Absent nasolacrimal ducts; micropenis. Hypogonadotropic hypogonadism; 9y-growth normal; autistic and aggressive behavior. Psychomotor developmental quotient moderately delayed. Needs special education program at school; generalized seizures. Agenesis of the olfactory bulbs	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095261	-	PubMed: Gordon 2017, Journal: Gordon 2017	2-generation family, 1 affected, parents not available	F	no	United Kingdom (Great Britain)	Wales	-	-	-	-	BAMS	complete arhinia (small pit to the left of the columella, no nasal airway); bilateral microphthalmia. Short palpebral fissures. Blepharophimosis. Bilateral corneal opacities. Upbeat nystagmus with poor fixation following reflexes. Flash Visual Evoked Potential evident bilaterally, but no consistent evidence of patent Visual Evoked Potential, suggesting visual impairment; high arched palate, hypertelorism. Bilateral complete absence of the lacrimal apparatus. Absence of nasal cavity and ethmoid sinuses; normal reproductive system; normal growth; normal psychomotor development; floor of the anterior cranial fossa is deficient anteriorly, with an encephalocele.	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095262	-	PubMed: Gordon 2017, Journal: Gordon 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	no	Thailand	-	-	-	-	-	BAMS	complete arhinia; eyes normal; telecanthus. Downward slant palpebral fissure. Midface hypoplasia. Obstruction of nasolacrimal passage. Absence of nasal cavity, nasal bone and anterior soft tissue. High arched palate. Paramedian notch of the upper lip (bilateral). Nonpneumatization of the maxillary, sphenoid and ethmoid sinuses; slim penis; normal growth; normal psychomotor development; bilateral olfactory bulb agenesis	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095263	-	PubMed: Gordon 2017, Journal: Gordon 2017	2-generation family, 1 affected, unaffected non-carrier parents	F	no	Thailand	-	-	-	-	-	BAMS	partial arhinia (patency of left nostril but complete obstruction of left posterior nare); normal eyes; telecanthus. Upward slant palpebral fissure. Midface hypoplasia. Obstruction of nasolacrimal passage. Nasal bone hypoplasia. High arched palate. Nonpneumatization of the maxillary, sphenoid and ethmoid sinuses; normal reproductive system; normal growth; normal psychomotor development; olfactory bulb agenesis (L).	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095264	-	PubMed: Gordon 2017, Journal: Gordon 2017	2-generation family, 1 affected, unaffected non-carrier parents	F	no	Turkey	-	-	-	-	-	BAMS	complete arhinia ; normal eyes; telecanthus. High arched palate. Agenesis of nasal bone. Absence of nasal cavity. Midface hypoplasia; normal reproductive system; normal growth; normal psychomotor development; atrial septal defect	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095265	-	PubMed: Gordon 2017, Journal: Gordon 2017	2-generation family, 1 affected, unaffected non-carrier parents	F	no	Turkey	-	-	-	-	-	BAMS	complete arhinia ; bilateral microphthalmia. Ectopic iris. Vision loss (can only see light); hypertelorism. Posterior cleft palate. Gingival cleft of lower arch. Cleft lower lip (operated). Cleft mandibula. Underdeveloped superior ear pinnae, auricular pit (R). Absent auditory canal (R). CT: absence of external auditory canals. Absence of nasal cavity, nasal bone and anterior soft tissue. Midface hypoplasia. Obstruction of nasolacrimal passage; hypoplastic labia majora. No menarche or secondary sex development; tall and strong build; severe psychomotor retardation. Walked at 4.5 years, talked with two word sentences at the age of 4 years then lost vocabulary. Has prominent articulation defect. Never had toilet training. Has sleep disorder. Stereotypic movements. Anxious, aggressive and non-cooperative; bilateral olfactory bulb agenesis	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095266	-	PubMed: Gordon 2017, Journal: Gordon 2017, PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	F	no	Norway	-	-	-	-	-	BAMS	complete arhinia ; bilateral coloboma of the iris; high arched palate. Slight hypertelorism. Absence of paranasal sinuses, nasal bones, cribriform plate and septal structures. Maxillary hypoplasia. Nasolachrymal duct atresia; delayed puberty with low gonadotropins; has been started on estrogen; normal growth; normal psychomotor development; absence of olfactory bulbs and sulci. Fused medial orbital and rectus gyri	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095267	-	PubMed: Gordon 2017, Journal: Gordon 2017	2-generation family, 1 affected, parents not available	F	no	Ukraine	-	-	-	-	-	BAMS	complete arhinia ; bilateral microphthalmia. Iris anatomy unknown; hypertelorism. Coarse calcifications along the medial aspect of the globes bilaterally. Narrow high arched palate. Choanal and mastoid air cell atresia bilaterally with a dysmorphic and expansile appearance of the greater wing of the sphenoid bone and infratemporal surface of the maxillary bone bilaterally. Absent paranasal sinuses. Central cleft between the dysmorphic maxilla. Absent cribriform plate and crista galli. No identified osseous plate between the non-pneumatized central nasal passage and the frontal lobes; external genitalia norma; growth deficiency. Thought to have nutritional deficiency. BMI 13.7; significant psychomotor delays. Thought to be related to lack of environmental stimuli; no evidence of olfactory bulbs on CT scan	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095277	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	white	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095278	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	M	-	-	white	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095279	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, mother not available/father negative	M	-	-	white	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095280	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available, 3 sisters negative	M	-	United Kingdom (Great Britain)	Scottish;Irish	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095281	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, father not available/mother negative	M	-	-	Irish;Polish;Italian	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095282	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, mother and paternal half-siblings negative	M	-	-	white	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095283	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	F	-	-	Chinese;Vietnamese	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095284	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 2 affecteds, parents not available (parents 2nd cousins), PatH1	M	yes	Morocco	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	2	Johan den Dunnen
00095285	-	PubMed: Shaw 2017, Journal: Shaw 2017	sister PatH2	F	yes	Morocco	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095286	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	white	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095287	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	M	-	Japan	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095288	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	F	-	Taiwan	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095289	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 3 affecteds, PatO1	F	-	Germany	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	2	Johan den Dunnen
00095290	-	PubMed: Shaw 2017, Journal: Shaw 2017	sister PatO4	F	-	Germany	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095291	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	M	-	-	Middle Eastern	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095292	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 2 affected sisters, parents not available; 1 of 6 other siblings has arhinia, high arched palate, microphthalmia, cataracts, ID	F	-	Germany	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	2	Johan den Dunnen
00095293	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	F	-	United Kingdom (Great Britain)	British	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095294	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available (father with muscular dystrophy)	M	-	-	white	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095295	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, father not available/mother negative	F	-	Cameroon	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095296	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Switzerland	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095297	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	M	-	United States	African American	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095298	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	white	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095299	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	F	-	-	white	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095300	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	M	-	Mexico	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095301	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	M	-	-	Swiss;German	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095302	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	M	yes	Colombia	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095303	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Germany	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095304	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available, assumed inherited (4 relatives with nasal hypoplasia)	M	-	Belgium	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095305	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Finland	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095306	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available (maternal grandmother negative)	F	-	United States	African American	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095307	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, inherited from father with anosmia	F	-	-	white;Hispanic	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095308	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	M	-	Japan	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095309	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	white	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00095310	-	PubMed: Shaw 2017, Journal: Shaw 2017	2-generation family, 1 affected, parents not available	F	-	Japan	-	-	-	-	-	BAMS	see paper; …	SMCHD1	SMCHD1	1	1	Johan den Dunnen
00245453	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	BAMS	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245480	-	PubMed: Shaw 2017	-	M	-	Spain	-	-	-	-	-	BAMS	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245481	-	PubMed: Shaw 2017	-	F	-	Spain	-	-	-	-	-	BAMS	-	SMCHD1	SMCHD1	1	1	Richard Lemmers

Legend

How to query

Global Variome shared LOVD

MAVS (mitochondrial antiviral signaling protein)