Disease #05517 (skeletal dysplasia (dysplasia, skeletal))

Official abbreviation	skeletal dysplasia
Name	dysplasia, skeletal
OMIM ID	-
Inheritance	-
Individuals reported having this disease	410
Phenotype entries for this disease	408
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-11-16 16:43:21 +01:00 (CET)
Date last edited	N/A

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.

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Operator	Column type	Example	Matches
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	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
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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410 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

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
00204189	02958	-	two affected children	-	-	India	-	-	-	-	-	skeletal dysplasia	-	-	PISD	1	2	Katta M Girisha
00301741	15DG2238;15DG0764, 15DG0765	PubMed: Maddirevula 2019, PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Neonatal hypotonia, Cutis laxa, Global developmental delay, Kyphosis, Joint laxity	C3orf17	C3orf17	1	2	Johan den Dunnen
00321220	-	PubMed: Chandler et al., 2018	The variant is paternally inherited, but there are no signs of OI or a history of fracturing in the father.The technique used was the custom NGS Exome panel	-	-	-	-	-	-	-	-	skeletal dysplasia	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00331315	13DG1169	PubMed: Maddirevula 2018	isolated case	F	no	-	Arab	-	-	-	-	skeletal dysplasia	Hip dysplasia, Metopic synostosis, Global developmental delay, Patent ductus arteriosus, Umbi NO	ACTB	ACTB	1	1	LOVD
00331316	13DG2212	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Ectopic ossification, Triangular face, Ptosis, Microtia, Overfolded helix, Foot polydactyly Yes	ACVR1	ACVR1	1	1	LOVD
00331317	11DG0715, 11DG0716	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Abnormality of the eye	ADAMTS17	ADAMTS17	1	2	LOVD
00331318	17DG1003	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Bilateral ptosis, Deep palmar crease, Low-set ears, Hypertelorism, Hemangi No	ADAMTSL2	ADAMTSL2	1	1	LOVD
00331319	12DG2543,12DG2544	PubMed: Maddirevula 2018	family, 2 affected (2M)	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Aortic valve stenosis, Neonatal inspiratory stridor, Seizures, Brachydactyly, Limited elbow No	ADAMTSL2	ADAMTSL2	1	2	LOVD
00331320	15DG0465	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Low-set ears, Redundant skin, Narrow chest, Generalized bone demineralization	ALPL	ALPL	1	1	LOVD
00331321	11DG0848	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Bilateral talipes equinovarus, Limb joint contracture, Limitation of joint mobility, ThickeneYes	ANTXR2	ANTXR2	1	1	LOVD
00331322	08DG00156	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Long philtrum, Rectal prolapse, Low-set ears, Depressed nasal bridge, Micrognathia, Thin vNo	ANTXR2	ANTXR2	1	1	LOVD
00331323	10DG1878	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Failure to thrive, Intractable diarrhea, Limb joint contracture, Limitation of joint mobility, No	ANTXR2	ANTXR2	1	1	LOVD
00331324	17DG1004	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Arthrogryposis multiplex congenita, Hip dysplasia, Global developmental delay, Hypoalbu No	ANTXR2	ANTXR2	1	1	LOVD
00331325	12DG2105	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Arthrogryposis multiplex congenita	ANTXR2	ANTXR2	1	1	LOVD
00331326	13DG1590, 13DG1591, 13DG1605, 13DG1607, 15DG0280	PubMed: Maddirevula 2018	family, 5 affected (2F, 3M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Syndactyly, Polydactyly, Short stature, Marked delay in eruption of permanent teeth, Dep No	APC	APC	1	5	LOVD
00331327	17DG0784	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature	ARSB	ARSB	1	1	LOVD
00331328	13DG1831	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Dandy-Walker malformation, Hydrocephalus, Kyphosis, Strabismus, Hypermetropia, AbnoYes	ARSB	ARSB	1	1	LOVD
00331329	12DG0715	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Delayed gross motor development, Blue sclerae, Short stature, KyphoYes	B3GALT6	B3GALT6	1	1	LOVD
00331330	12DG1291, 12DG1024	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Delayed gross motor development, Osteopenia, Abnormal facial shape, Micrognathia, BluNo	B3GALT6	B3GALT6	1	2	LOVD
00331331	12DG2397	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Multiple joint dislocation, Distal arthrogryposis, Aortic valve stenosis, Prominent foreheadYes	B3GALT6	B3GALT6	1	1	LOVD
00331332	12DG1024	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Hypotonia, Abnormal facial shape, Cutis laxa, Wide anterior fontanel, Hypotonia, Talipes eNo	B3GALT6	B3GALT6	1	1	LOVD
00331333	12DG2007	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Blue sclerae, Severe short stature, Mitral regurgitation, Joint laxity, Joint dislocation, Kyp Yes	B3GALT6	B3GALT6	1	1	LOVD
00331334	10DG1767, 10DG1768, 10DG1769	PubMed: Maddirevula 2018	family, 3 affected (F, 2M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Hypermetropia, Strabismus, Rhizomelia, Micrognathia, Generalized joint la No	C21orf2	C21orf2	1	3	LOVD
00331335	11DG0973	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Retinal dystrophy, Short stature, Narrow chest, Short ribs, Horizontal ribs, Skeletal dysplaYes	C21orf2	C21orf2	1	1	LOVD
00331336	13DG0374, 13DG0375	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Retinal dystrophy, Short stature, Narrow chest	C21orf2	C21orf2	1	2	LOVD
00331337	08DG00093, 15DG2215, 15DG2216	PubMed: Maddirevula 2018	family, 3 affected (3F)	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopetrosis, Intellectual disability, Failure to thrive, eczema, Recurrent infections, PersisYes	CA2	CA2	1	3	LOVD
00331338	15DG0629	PubMed: Maddirevula 2018	family	F	no	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Renal tubular acidosis, Intellectual disability, Cerebral calcification, HyNo	CA2	CA2	1	1	LOVD
00331339	11DG1498, 10DG1696, 10DG1499	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopetrosis	CA2	CA2	1	2	LOVD
00331340	15DG0001	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Skeletal dysplasia, Macrocephaly at birth, Short stature, Wide anterior fontanel	CANT1	CANT1	1	1	LOVD
00331341	15DG2387	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Brachydactyly, Acromelia, Bilateral talipes equinovarus, Micrognathia, Narrow palpebral fi Yes	CANT1	CANT1	1	1	LOVD
00331342	16DG0734	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Skeletal dysplasia, Low-set ears, Abnormality of the pinna, Depressed nasal bridge, ProptNo	CANT1	CANT1	1	1	LOVD
00331343	09DG00066, 09DG00019	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short long bones, IUGR, Polyhydramnios, Narrow chest	CANT1	CANT1	1	2	LOVD
00331344	13DG1354	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Severe short stature, Multiple joint dislocation	CANT1	CANT1	1	1	LOVD
00331345	14DG0051	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Limb undergrowth, Narrow chest, Neonatal respiratory distress, Round face, MicrognathiaNo	CANT1	CANT1	1	1	LOVD
00331346	12DG1875	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Hydrocephalus, Occipital encephalocele, Polycystic kidney dysplasia	CC2D2A	CC2D2A	1	1	LOVD
00331347	13DG0083	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Breathing dysregulation, Generalized hypotonia, Abnormal facial shape, Nystagmus, Glob No	CC2D2A	CC2D2A	1	1	LOVD
00331348	15DG1758	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Hydrocephalus, Failure to thrive, Renal insufficiency, Global developmental delay, Molar t No	CC2D2A	CC2D2A	1	1	LOVD
00331349	14DG0186 , 14DG0187	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Ectrodactyly, Macular dystrophy	CDH3	CDH3	1	1	LOVD
00331350	12DG1777, 12DG2033	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Rod-cone dystrophy, Abnormal facial shape, Ectrodactyly	CDH3	CDH3	1	1	LOVD
00331351	11DG0416	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Stillbirth, Skeletal dysplasia, Polydactyly, Narrow chest, Limb undergrowth, Syndactyly, CeNo	CEP120	CEP120	1	1	LOVD
00331352	13DG1526	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Narrow chest, Abnormal facial shape, Relative macrocephaly, Hypertelorism, Median cleft No	CEP120	CEP120	1	1	LOVD
00331353	10DG1030	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Oculomotor apraxia, Molar tooth sign on MRI, Retinal dystroNo	CEP290	CEP290	1	1	LOVD
00331354	10DG1250	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Generalized hypotonia, Global developmental delay, Visual impairment, Nystagmus, MolaNo	CEP290	CEP290	1	1	LOVD
00331355	11DG0364	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Intrauterine growth retardation, Microcephaly, Occipital encephalocele, Anencephaly, Pul Yes	CEP290	CEP290	1	1	LOVD
00331356	11DG0512	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Retinal dystrophy, Nephronophthisis, Molar tooth sign on MRI	CEP290	CEP290	1	1	LOVD
00331357	11DG1272	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Molar tooth sign on MRI	CEP290	CEP290	1	1	LOVD
00331358	12DG1317	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Molar tooth sign on MRI	CEP290	CEP290	1	1	LOVD
00331359	10DG0445, 10DG0446	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Intellectual disability, Hearing impairment, Ectrodactyly, Joint laxity	CHST14	CHST14	1	2	LOVD
00331360	15DG1370	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Knee dislocation, Congenital bilateral hip dislocation, Downslanted palpebr Yes	CHST3	CHST3	1	1	LOVD
00331361	16DG1620, 16DG1621	PubMed: Maddirevula 2018	family, 2 affected (2M)	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Blindness, Recurrent fractures, Osteopetrosis, Dolichocephaly	CLCN7	CLCN7	1	2	LOVD
00331362	14DG1059, 14DG1060	PubMed: Maddirevula 2018	family, 2 affected (2M)	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global Developmental delay, Short stature, Hearing impairment, Abnormal facial shape, HNo	COL11A1	COL11A1	1	2	LOVD
00331363	15DG0723	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Flat face	COL11A1	COL11A1	1	1	LOVD
00331364	14DG1963	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Tractional retinal detachment	COL11A1	COL11A1	1	1	LOVD
00331365	15DG1315	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Micromelia, Abnormal facial shape	COL11A2	COL11A2	1	1	LOVD
00331366	17DG0785	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Sensorineural hearing impairment, Limb undergrowth, Relative macrocephaly, Narrow cheNo	COL11A2	COL11A2	1	1	LOVD
00331367	10DG0944	PubMed: Maddirevula 2018	isolated case	F	no	-	Arab	-	-	-	-	skeletal dysplasia	Osteopenia, Recurent fractures	COL1A1	COL1A1	1	1	LOVD
00331368	11DG0155	PubMed: Maddirevula 2018	isolated case	M	no	-	Arab	-	-	-	-	skeletal dysplasia	Osteopenia	COL1A1	COL1A1	1	1	LOVD
00331369	10DG2048 , 10DG2049	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	-	-	Arab	-	-	-	-	skeletal dysplasia	Osteopenia, Recurent fractures, Tibial bowing, Bowing of the legs	COL1A1	COL1A1	1	2	LOVD
00331370	10DG2173 , 10DG2174	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	no	-	Arab	-	-	-	-	skeletal dysplasia	Osteopenia , Recurrent fractures	COL1A1	COL1A1	1	2	LOVD
00331371	17DG0786	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Muscular hypotonia, Microcephaly, Osteopenia, Abnormal facial shape, Failure to thrive, I Yes	COL1A1	COL1A1	1	1	LOVD
00331372	11DG0066	PubMed: Maddirevula 2018	isolated case	M	no	-	Arab	-	-	-	-	skeletal dysplasia	Reduced bone mineral density, Bowing of the long bones	COL1A2	COL1A2	1	1	LOVD
00331373	14DG0921	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Triangular face, Blue sclerae, Micrognathia, High, narrow palate	COL1A2	COL1A2	1	1	LOVD
00331374	10DG1570	PubMed: Maddirevula 2018	isolated case	M	no	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Multiple prenatal fractures, Blue sclerae, Small face	COL1A2	COL1A2	1	1	LOVD
00331375	09DG01656, 09DG01657	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	-	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Osteoporosis	COL1A2	COL1A2	1	2	LOVD
00331376	14DG0759	PubMed: Maddirevula 2018	isolated case	F	-	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Triangular face, Abnormality of the dentition	COL1A2	COL1A2	1	1	LOVD
00331377	14DG1457	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Tractional retinal detachment	COL2A1	COL2A1	1	1	LOVD
00331378	10DG1851	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Disproportionate short stature, Scoliosis, Metaphyseal dysplasia, Inguinal hernia, Myopia Yes	COL2A1	COL2A1	1	1	LOVD
00331379	15DG1146	PubMed: Maddirevula 2018	isolated case	M	no	-	-	-	-	-	-	skeletal dysplasia	Non-Arab ( Short stature, Frontal bossing, Plagiocephaly, Short neck, Failure to thrive	COL2A1	COL2A1	1	1	LOVD
00331380	15DG1160	PubMed: Maddirevula 2018	isolated case	F	no	-	-	-	-	-	-	skeletal dysplasia	Non-Arab ( Osteopenia, Kyphosis, Plagiocephaly, Recurrent fractures	COL2A1	COL2A1	1	1	LOVD
00331381	15DG1410	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Skeletal dysplasia, Short stature	COL2A1	COL2A1	1	1	LOVD
00331382	15DG0618	PubMed: Maddirevula 2018	isolated case	M	no	-	Arab	-	-	-	-	skeletal dysplasia	Inflammatory abnormality of the skin, Finger swelling	COL2A1	COL2A1	1	1	LOVD
00331383	15DG1149	PubMed: Maddirevula 2018	isolated case	M	no	-	-	-	-	-	-	skeletal dysplasia	Non-Arab ( Short stature	COMP	COMP	1	1	LOVD
00331384	14DG0467	PubMed: Maddirevula 2018	isolated case	M	no	-	Arab	-	-	-	-	skeletal dysplasia	Cryptorchidism, Elbow flexion contracture, Global developmental delay, Hirsutism, Under No	CREBBP	CREBBP	1	1	LOVD
00331385	12DG2123	PubMed: Maddirevula 2018	isolated case	M	no	-	Arab	-	-	-	-	skeletal dysplasia	Intellectual disability, Severe short stature	CREBBP	CREBBP	1	1	LOVD
00331386	15DG1125	PubMed: Maddirevula 2018	isolated case	M	no	-	Arab	-	-	-	-	skeletal dysplasia	Intellectual disability, Severe short stature, Abnormal facial shape	CREBBP	CREBBP	1	1	LOVD
00331387	11DG1959	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Skeletal dysplasia, Wide anterior fontanel, Micrognathia, Hand polydactyly, Narrow chest,Yes	CRTAP	CRTAP	1	1	LOVD
00331388	11DG2122	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopenia , Recurrent fractures	CRTAP	CRTAP	1	1	LOVD
00331389	11DG2311, 11DG2314, 11DG2315, 13DG0493, 13DG0494	PubMed: Maddirevula 2018	family, 5 affected (5M)	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopetrosis, Frontal bossing, Depressed nasal bridge, Acromesomelia, Pectus carinatumNo	CTSK	CTSK	1	5	LOVD
00331390	12DG1644, 12DG1645	PubMed: Maddirevula 2018	family, 2 affected (2F)	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopetrosis, Short stature, Deviated nasal septum, Abnormality of the dentition	CTSK	CTSK	1	2	LOVD
00331391	08DG00138, 08DG00139	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Cutis laxa, Joint laxity, Global developmental delay, Failure to thrive, Proportionate short No	CUL7	CUL7	1	2	LOVD
00331392	10DG1592, 10DG0199, 10DG1592, 10DG1593	PubMed: Maddirevula 2018	family, 4 affected (3F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Joint laxity, Midface retrusion, Depressed nasal bridge, Thick vermilion border, Prominent Yes	CUL7	CUL7	1	4	LOVD
00331393	11DG1211, 11DG1210	PubMed: Maddirevula 2018	family, 2 affected (2M)	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Severe short stature, Feeding difficulties, Triangular face, Broad forehead, Wide nose, Mal Yes	CUL7	CUL7	1	2	LOVD
00331394	12DG1575	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Abnormal heart morphology, Osteopenia, Midface retrusion, Depressed nasno	CUL7	CUL7	1	1	LOVD
00331395	17DG0787	PubMed: Maddirevula 2018	isolated case	F	no	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Abnormal facial shape, Failure to thrive	CUL7	CUL7	1	1	LOVD
00331396	16DG0357, 16DG0356	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Brachydactyly, Hypoplastic toes	DIP2C	DIP2C	1	2	LOVD
00331397	14DG0661	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Scoliosis, Short neck, Skeletal dysplasia, Pectus excavatum, Failure to thriveNo	DLL3	DLL3	1	1	LOVD
00331398	12DG2214, 12DG2215	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Neonatal respiratory distress, Kyphoscoliosis, Genu recurvatum, Hemivertebrae, Severe MYes	DLL3	DLL3	1	2	LOVD
00331399	17DG0788	PubMed: Maddirevula 2018	isolated case	F	no	-	Arab	-	-	-	-	skeletal dysplasia	Scoliosis, Pectus carinatum, Short neck, Short stature, Hemivertebrae, Block vertebrae	DLL3	DLL3	1	1	LOVD
00331400	11DG0832, 11DG0833	PubMed: Maddirevula 2018	family, 2 affected (2F)	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Ectrodactyly, Abnormal nails, Hearing impairment	DLX5	DLX5	1	2	LOVD
00331401	15DG0742	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Brachydactyly, Small nail	DOCK6	DOCK6	1	1	LOVD
00331402	10DG1365, 10DG1712	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Seizures, Blindness, Microcephaly, Aplasia cutis congenita of No	DOCK6	DOCK6	1	2	LOVD
00331403	12DG2564	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Aplasia cutis congenita, Depressed nasal bridge, Bulbous nose, Single transverse palmar crYes	DOCK6	DOCK6	1	1	LOVD
00331404	12DG2198, 12DG2199	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	no	-	-	-	-	-	-	skeletal dysplasia	Non-Arab ( Disproportionate short stature, Microcephaly, Pectus carinatum, Spinal canal stenosis, WiYes	DYM	DYM	1	2	LOVD
00331405	12DG2350	PubMed: Maddirevula 2018	isolated case	M	no	-	-	-	-	-	-	skeletal dysplasia	Non-Arab ( Intellectual disability, Short stature, Pectus carinatum, Failure to thrive	DYM	DYM	2	1	LOVD
00331406	13DG2185, 13DG2186, 13DG2187	PubMed: Maddirevula 2018	family, 3 affected (3F)	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Intellectual disability, Microcephaly, Pectus carinatum, Failure to thrive	DYM	DYM	1	3	LOVD
00331407	13DG0239	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Short stature, Scoliosis	DYM	DYM	1	1	LOVD
00331408	13DG0451	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Seizures, Short stature, Brachydactyly, Camptodactyly, Hyperlordosis, Platyspondyly, Hyp Yes	DYM	DYM	1	1	LOVD
00331409	13DG0720, 13DG0721	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Microcephaly, Generalized hypotonia, Brisk reflexes, Intellectual disability, Yes	DYM	DYM	1	2	LOVD
00331410	13DG0723, 13DG0724	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Failure to thrive, Intellectual disability	DYM	DYM	1	2	LOVD
00331411	13DG0636, 13DG0636	PubMed: Maddirevula 2018	family, 2 affected (F, M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Intellectual disability, Short stature, Short neck, Pectus excavatum, Intercostal retractions Yes	DYM	DYM	1	2	LOVD

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Global Variome shared LOVD

GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acety...)