Disease #03044 (LIS3 (lissencephaly, type 3 (LIS-3)), OMIM:611603)

Official abbreviation	LIS3
Name	lissencephaly, type 3 (LIS-3)
OMIM ID	611603
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	161
Phenotype entries for this disease	160
Associated with 1 gene	TUBA1A
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	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'
!=""	Text	!=""	all entries with this field not empty
!=""	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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161 entries on 2 pages. Showing entries 1 - 100.

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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
00111414	S_006	PubMed: Popp 2017, Journal: Popp 2017	-	F	no	-	-	-	-	-	-	LIS3	Severe ID, severe epilepsy, developmental regression, scoliosis, hypotonia, MRI: agenesis of corpus callosum, Dandy-Walker malformation, opticus hypoplasia, delayed bone age	TUBA1A	TUBA1A	1	1	Bernt Popp
00181233	17218254-Patient 1	Journal: Hebebrand 2018, PubMed: Keays 2007	source reviewed	M	no	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181234	17218254-Patient 2	Journal: Hebebrand 2018, PubMed: Keays 2007	source reviewed	M	no	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); no Seizures (-HP:0001250)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181235	17584854-Patient 2	Journal: Hebebrand 2018, PubMed: Poirier 2007	source reviewed	M	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); no Seizures (-HP:0001250)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181236	17584854-Patient 5	Journal: Hebebrand 2018, PubMed: Poirier 2007	source reviewed	F	no	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181237	17584854-Patient 8	Journal: Hebebrand 2018, PubMed: Poirier 2007	source reviewed	M	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormality of brainstem morphology (-HP:0002363); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181238	18954413-FR08-D5604	Journal: Hebebrand 2018, PubMed: Morris-Rosendahl 2008	source reviewed	M	?	United Arab Emirates	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181239	18954413-FR04-D4148	Journal: Hebebrand 2018, PubMed: Morris-Rosendahl 2008	source reviewed	F	no	Turkey	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Generalized tonic-clonic seizures (HP:0002069); Strabismus, Nystagmus (HP:0000486, HP:0000639)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181240	18954413-RE07-S1605	Journal: Hebebrand 2018, PubMed: Morris-Rosendahl 2008	source reviewed	M	?	Germany	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Focal seizures (HP:0007359)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181241	18954413-FR05-D4607	Journal: Hebebrand 2018, PubMed: Morris-Rosendahl 2008	source reviewed	M	no	Portugal	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181242	18954413-FR07-D5526	Journal: Hebebrand 2018, PubMed: Morris-Rosendahl 2008	source reviewed	F	no	Germany;Italy	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181243	18728072-1	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2008	source reviewed	M	no	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); no Abnormality of the cerebellar vermis (-HP:0002334); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); no Seizures (-HP:0001250); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181244	18728072-2	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2008	source reviewed	M	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); no Abnormality of the cerebellar vermis (-HP:0002334); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181245	18728072-3	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2008	source reviewed	M	no	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Dysgenesis of the cerebellar vermis (HP:0002195); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181246	18728072-4	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2008	source reviewed	F	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181247	18728072-5	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2008	source reviewed	M	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181248	18728072-6	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2008	source reviewed	F	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181249	20466733-CM-107	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Dysgenesis of the hippocampus (HP:0025101)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181250	20466733-LR07-213	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181251	20466733-LR07-244	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101); Dilated fourth ventricle (HP:0002198)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181252	20466733-LR05-388	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181253	20466733-LP95-073	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181254	20466733-LR07-008	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181255	20466733-LR06-210	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181256	20466733-LR08-035	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181257	20466733-LR06-064	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181258	20466733-LP97-039	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181259	20466733-LP97-041	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181260	20466733-LR05-052	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dysgenesis of the hippocampus (HP:0025101); Dilated fourth ventricle (HP:0002198)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181261	20466733-LR08-340	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dysgenesis of the hippocampus (HP:0025101); Dilated fourth ventricle (HP:0002198)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181262	20466733-LR08-388	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181263	20466733-Pat	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Cortical gyral simplification (HP:0009879); Cerebellar hypoplasia (HP:0001321)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181264	21403111-family 1 patient 1	Journal: Hebebrand 2018, PubMed: Jansen 2011	source reviewed	M	no	-	white	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Spasticity (HP:0001257); Focal seizures (HP:0007359)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181265	21403111-family 2 patient 1	Journal: Hebebrand 2018, PubMed: Jansen 2011	source reviewed	F	yes	Morocco	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); no Abnormality of the cerebellar vermis (-HP:0002334); Hypoplasia of the brainstem (HP:0002365); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); Focal seizures (HP:0007359); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181266	21403111-family 2 patient 2	Journal: Hebebrand 2018, PubMed: Jansen 2011	source reviewed	F	yes	Morocco	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dilated fourth ventricle (HP:0002198); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250); Optic nerve hypoplasia (HP:0000609)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181267	21403111-family 2 patient 3	Journal: Hebebrand 2018, PubMed: Jansen 2011	source reviewed	F	?	Morocco	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); no Abnormal cortical gyration (-HP:0002536); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); no Abnormality of the internal capsule (-HP:0012502); no Seizures (-HP:0001250)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181268	22264709-Pat	Journal: Hebebrand 2018, PubMed: Sohal 2012	source reviewed	F	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181269	22408144-Patient 2	Journal: Hebebrand 2018, PubMed: Mokanszki 2012	source reviewed	M	no	Hungary	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormality of brainstem morphology (-HP:0002363); no Gray matter heterotopia (-HP:0002281); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Infantile spasms (HP:0012469)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181270	23361065-Patient 5	Journal: Hebebrand 2018, PubMed: Cushion 2013	source reviewed	F	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Polymicrogyria (HP:0002126); no Abnormality of brainstem morphology (-HP:0002363); Cerebellar hypoplasia (HP:0001321); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); no Seizures (-HP:0001250); Optic nerve hypoplasia (HP:0000609)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181271	23361065-Patient 6	Journal: Hebebrand 2018, PubMed: Cushion 2013	source reviewed	M	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Abnormality of the internal capsule (HP:0012502); no Microcephaly (-HP:0000252); no Seizures (-HP:0001250)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181272	22633752-Pat	Journal: Hebebrand 2018, PubMed: Okumura 2013	source reviewed	F	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria-pachygyria (HP:0031883, HP:0001302); no Abnormality of the cerebellar vermis (-HP:0002334); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181273	22948023-Patient 2	Journal: Hebebrand 2018, PubMed: Poirier 2013	source reviewed	F	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181274	22948023-Patient 1	Journal: Hebebrand 2018, PubMed: Poirier 2013	source reviewed	M	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); no Abnormality of brainstem morphology (-HP:0002363); no Abnormal cerebellum morphology (-HP:0001317); no Microcephaly (-HP:0000252); Other neurological symptoms (NA); Focal seizures (HP:0007359)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181275	22948023-Patient 3	Journal: Hebebrand 2018, PubMed: Poirier 2013	source reviewed	M	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181276	23317684-Pat	Journal: Hebebrand 2018, PubMed: Zanni 2013	source reviewed	F	no	-	white	-	-	-	-	LIS3	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181277	23528852-Pat	Journal: Hebebrand 2018, PubMed: Hikita 2014	source reviewed	F	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); no Gray matter heterotopia (-HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181278	24392928-Patient 1	Journal: Hebebrand 2018, PubMed: Romaniello 2014	source reviewed	F	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Brainstem dysplasia (HP:0002508); Dysgenesis of the hippocampus (HP:0025101); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Other neurological symptoms (NA); Infantile spasms (HP:0012469)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181279	24510153-Pat	Journal: Hebebrand 2018, PubMed: Kamiya 2014	source reviewed	M	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181280	24860126-LIS_TUB_014	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Agyria (HP:0031882); Cerebellar dysplasia (HP:0007033); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181281	24860126-LIS_TUB_015	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Agyria (HP:0031882); Cerebellar dysplasia (HP:0007033); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181282	24860126-LIS_TUB_016	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	F	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181283	24860126-LIS_TUB_019	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181284	24860126-LIS_TUB_030	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181285	24860126-LIS_TUB_031	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	no Abnormal corpus callosum morphology (-HP:0001273); Pachygyria (HP:0001302); Dysgenesis of the cerebellar vermis (HP:0002195); no Abnormal cerebellum morphology (-HP:0001317); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181286	24860126-LIS_TUB_032	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); no Abnormal cerebellum morphology (-HP:0001317); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181287	24860126-LIS_TUB_033	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	F	?	-	-	-	-	-	-	LIS3	no Abnormal corpus callosum morphology (-HP:0001273); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181288	24860126-LIS_TUB_034	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	F	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181289	24860126-LIS_TUB_035	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	no Abnormal corpus callosum morphology (-HP:0001273); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181290	24860126-LIS_TUB_044	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	F	?	-	-	-	-	-	-	LIS3	no Abnormal corpus callosum morphology (-HP:0001273); Polymicrogyria (HP:0002126); Dysgenesis of the cerebellar vermis (HP:0002195); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181291	24860126-LIS_TUB_078	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	F	?	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Polymicrogyria (HP:0002126); Dysgenesis of the cerebellar vermis (HP:0002195); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181292	24860126-LIS_TUB_059	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Cortical gyral simplification (HP:0009879); no Abnormal cerebellum morphology (-HP:0001317); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181293	25053001-Pat	Journal: Hebebrand 2018, PubMed: Shimojima 2014	source reviewed	F	?	Japan	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181294	26130693-UW167-3	Journal: Hebebrand 2018, PubMed: Oegema 2015	source reviewed	F	no	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Other (NA); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181295	26130693-UW168-3	Journal: Hebebrand 2018, PubMed: Oegema 2015	source reviewed	F	no	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Other (NA); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181296	26493046-NCU_F41	Journal: Hebebrand 2018, PubMed: Yokoi 2015	source reviewed	F	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Other (NA); Hypoplasia of the brainstem (HP:0002365); Cerebellar agenesis (HP:0012642); Dilation of lateral ventricles (HP:0006956); Congenital microcephaly (HP:0011451); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Focal seizures (HP:0007359); Optic nerve hypoplasia (HP:0000609)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181297	26493046-K3373	Journal: Hebebrand 2018, PubMed: Yokoi 2015	source reviewed	M	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormality of brainstem morphology (-HP:0002363); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Spasticity (HP:0001257); Infantile spasms (HP:0012469)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181298	26294046-Pat	Journal: Hebebrand 2018, PubMed: Myers 2015	source reviewed	M	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Cortical gyral simplification (HP:0009879); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069); Optic nerve hypoplasia (HP:0000609)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181299	27431206-Patient A	Journal: Hebebrand 2018, PubMed: Bamba 2016	source reviewed	M	?	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181300	27431206-Patient B	Journal: Hebebrand 2018, PubMed: Bamba 2016	source reviewed	M	?	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); no Abnormality of brainstem morphology (-HP:0002363); Cerebellar hypoplasia (HP:0001321); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181301	28677066-P89815	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	F	?	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Polymicrogyria (HP:0002126); Cerebellar vermis hypoplasia (HP:0001320); Dilated fourth ventricle (HP:0002198); Congenital microcephaly (HP:0011451); Focal seizures (HP:0007359); Nystagmus (HP:0000639)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181302	28677066-P113708 II-1 (proband)	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	F	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Dysgenesis of the cerebellar vermis (HP:0002195); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181303	28677066-P113708 II-2 (sibling)	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	F	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181304	28677066-P113708 I-3 (father)	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	M	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Dysgenesis of the cerebellar vermis (HP:0002195); Dilated fourth ventricle (HP:0002198); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181305	28677066-P78411	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	M	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); no Abnormality of brainstem morphology (-HP:0002363); Dilated fourth ventricle (HP:0002198); no Congenital microcephaly (-HP:0011451); Other neurological symptoms (NA)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181306	28677066-TUB01	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	M	?	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Cortical gyral simplification (HP:0009879); Dysgenesis of the cerebellar vermis (HP:0002195); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Focal seizures (HP:0007359)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181307	28677066-P34016	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	M	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Brainstem dysplasia (HP:0002508); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); normal (NA); Infantile spasms (HP:0012469)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181308	28677066-P46814 II-1	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	F	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Cerebellar vermis hypoplasia (HP:0001320); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); no Seizures (-HP:0001250); Strabismus, Nystagmus (HP:0000486, HP:0000639)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181309	28677066-P46814 II-2 (ident. Twin sister)	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	F	?	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Dysgenesis of the cerebellar vermis (HP:0002195); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); no Seizures (-HP:0001250); Strabismus, Nystagmus (HP:0000486, HP:0000639)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181310	28677066-TUB06	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	F	?	-	-	-	-	-	-	LIS3	Brainstem dysplasia (HP:0002508); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469); Optic nerve hypoplasia (HP:0000609)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181311	28677066-TUB07	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	M	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); no Abnormality of brainstem morphology (-HP:0002363); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); no Seizures (-HP:0001250)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181312	28677066-P76111	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	F	?	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Other neurological symptoms (NA); no Seizures (-HP:0001250); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181313	28677066-21807	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	M	?	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); Generalized tonic-clonic seizures (HP:0002069); Nystagmus (HP:0000639)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181314	28677066-17656	Journal: Hebebrand 2018, PubMed: Romaniello 2017	source reviewed	M	?	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Dysgenesis of the cerebellar vermis (HP:0002195); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Focal seizures (HP:0007359); Strabismus, Nystagmus (HP:0000486, HP:0000639)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181315	29109381-Pat	Journal: Hebebrand 2018, PubMed: Mencarelli 2017	source reviewed	F	no	-	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Cortical gyral simplification (HP:0009879); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181316	Erlangen_757_2016	Journal: Hebebrand 2018, Erlangen	source reviewed	M	no	Germany	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Cerebellar vermis hypoplasia (HP:0001320); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Focal seizures (HP:0007359); Strabismus (HP:0000486)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181317	Erlangen_756_2013	Journal: Hebebrand 2018, Erlangen	source reviewed	M	no	Germany	-	-	-	-	-	LIS3	Hypoplasia of the corpus callosum (HP:0002079); Other (NA); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Muscular hypotonia (HP:0001252); no Seizures (-HP:0001250)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181318	17584854-Patient 4 (F) =Fetus	Journal: Hebebrand 2018, PubMed: Poirier 2007	source reviewed	M	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181319	17584854-Patient 6(F)	Journal: Hebebrand 2018, PubMed: Poirier 2007	source reviewed	M	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181320	17584854-Patient 7(F)	Journal: Hebebrand 2018, PubMed: Poirier 2007	source reviewed	M	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181321	18669490-(F)_2	Journal: Hebebrand 2018, PubMed: Fallet-Bianco 2008	source reviewed	M	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181322	20376468-(F)_1	Journal: Hebebrand 2018, PubMed: Lecourtois 2010	source reviewed	F	no	-	-	-	-	-	-	LIS3	Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181323	20466733-CM-66	Journal: Hebebrand 2018, PubMed: Kumar 2010	source reviewed	?	no	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181324	24860126-LIS_TUB_004_fetus08	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the pons (HP:0012110); Cerebellar dysplasia (HP:0007033); no Abnormal morphology of the hippocampus (HP:0025100); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181325	24860126-LIS_TUB_004_fetus09	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	F	?	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181326	24860126-LIS_TUB_005_foetus01	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Partial agenesis of the corpus callosum (HP:0001338); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181327	24860126-LIS_TUB_003_ fetus18	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252); Optic nerve hypoplasia (HP:0000609)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181328	24860126-LIS_TUB_002_ fetus20	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	F	?	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); no Abnormal morphology of the hippocampus (HP:0025100); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181329	24860126-LIS_TUB_080_ fetus24	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	F	?	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); no Gray matter heterotopia (-HP:0002281); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181330	24860126-LIS_TUB_079_ fetus25	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the pons (HP:0012110); Cerebellar dysplasia (HP:0007033); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand
00181331	24860126-LIS_TUB_017 fetus02	Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014	source reviewed	M	?	-	-	-	-	-	-	LIS3	Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); no Congenital microcephaly (-HP:0011451)	TUBA1A	TUBA1A	1	1	Moritz Hebebrand

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Global Variome shared LOVD

BBS7 (Bardet-Biedl syndrome 7)