All individuals with variants in gene ALDH3A2

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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

188 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	Variants	Panel size	Owner
00064676	Pat1	PubMed: De Laurenzi 1996	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Japan	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001257 (Spasticity); HP:0001249 (intellectual disability)	2	1	Johan den Dunnen
00074600	-	PubMed: Davis 2013, Journal: Davis 2013	-	F	no	Honduras	-	-	-	-	ankle tenotomies, skin moisturizing creams	SLS	HP:0012758 (neurodevelopmental delay); HP:0001622 (premature birth, 31 weeks, complications by infections at 6/7 months: malaria, varicella); HP:0007503 (generalized ichtyosis,neck, trunk, extremities); HP:0001250 (seizures; brief and isolated, remission without treatment); HP:0000962 (hyperkeratosis); HP:0000989 (pruritus); HP:0007894 (Fundus hypopigmentation, mild); HP:0007034 (generalized hyperreflexia); HP:0001264 (spastic diplegia, lower ex more than upper ex)	1	1	Maximilian Weustenfeld
00079126	-	PubMed: Davis 2013, Journal: Davis 2013	-	M	yes	Honduras	-	-	-	-	several anticonvulsants	SLS	HP:0007503 (generalized Ichthyosis, entire body); HP:0012758 (neurodevelopmental delay, movement, speech); HP:0002510 (spastic quadriplegia, partial contractures in all extremeties); HP:0011400 (abnormal CNS myelination); HP:0001250 (seizures); HP:0001336 (nocturnal myoclonus); HP:0000297 (facial hypotonia); HP:0000670 (dental caries); HP:0000028 (Cryptorchidism, maldescensus of right testicle); HP:0012203 (onychomycosis, fingernails); HP:0007957 (corneal opacity); HP:0000613 (photophobia, severe)	1	1	Maximilian Weustenfeld
00079361	-	PubMed: Sarret 2012; Journal: Sarret 2012	-	F	no	France	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007702 (Pigmentary retinal deposits, "white glistening dots"); HP:0007266 (Cerebral dysmyelination);	1	1	Maximilian Weustenfeld
00079569	-	PubMed: Sarret 2012; Journal: Sarret 2012	-	F	no	France	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007702 (Pigmentary retinal deposits, "white glistening dots"); HP:0007266 (Cerebral dysmyelination)	2	1	Maximilian Weustenfeld
00079570	-	PubMed: Sarret 2012; Journal: Darret 2012	-	F	no	France	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007702 (Pigmentary retinal deposits, "white glistening dots"); HP:0007266 (Cerebral dysmyelination)	2	1	Maximilian Weustenfeld
00079633	-	PubMed: Sarret 2012; Journal: Sarret 2012	-	F	yes	Algeria	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007266 (Cerebral dysmyelination)	1	1	Maximilian Weustenfeld
00079634	-	PubMed: Sarret 2012; Journal: Sarret 2012	-	M	yes	Tunisia	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007266 (Cerebral dysmyelination)	1	1	Maximilian Weustenfeld
00079874	-	PubMed: Willemsen 2001	-	M	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, severe); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 35 weeks); HP:0002188 (Delayed CNS myelination)	2	1	Maximilian Weustenfeld
00079916	-	PubMed: Willemsen 2001	-	M	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, severe); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0002188 (Delayed CNS myelination)	2	1	Maximilian Weustenfeld
00079917	-	PubMed: Willemsen 2001	-	M	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe), HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, severe); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 36 weeks); HP:0002188 (Delayed CNS myelination)	1	1	Maximilian Weustenfeld
00079918	-	PubMed: Willemsen 2001	-	F	yes	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, IQ 55); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 38 weeks); HP:0002188 (Delayed CNS myelination)	1	1	Maximilian Weustenfeld
00079919	-	PubMed: Willemsen 2001	-	F	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 56); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 36,5 weeks); HP:0002188 (Delayed CNS myelination)	2	1	Maximilian Weustenfeld
00079920	-	PubMed: Willemsen 2001	-	F	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 54); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 37,5 weeks); HP:0002188 (Delayed CNS myelination	2	1	Maximilian Weustenfeld
00080727	-	PubMed: Willemsen 2001	-	F	no	Turkey	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, IQ 50); HP:0030507 (retinal crystals); HP:0001622 (premature birth, 28 weeks); HP:0002188 (Delayed CNS myelination)	1	1	Maximilian Weustenfeld
00080754	-	PubMed: Willemsen 2001	-	M	yes	Turkey	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 34,5 weeks); HP:0002188 (Delayed CNS myelination)	1	1	Maximilian Weustenfeld
00080755	-	PubMed: Willemsen 2001	-	F	yes	Turkey	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 61); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 36,5 weeks); HP:0002188 (Delayed CNS myelination)	1	1	Maximilian Weustenfeld
00080756	-	PubMed: Willemsen 2001	-	F	yes	Turkey	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 35 weeks); HP:0002188 (Delayed CNS myelination)	1	1	Maximilian Weustenfeld
00080757	-	PubMed: Willemsen 2001	-	M	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 49); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 34 weeks); HP:0002188 (Delayed CNS myelination)	1	1	Maximilian Weustenfeld
00080758	-	PubMed: Willemsen 2001	-	M	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, IQ 48); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 33 weeks); HP:0002188 (Delayed CNS myelination)	1	1	Maximilian Weustenfeld
00081222	-	PubMed: Willemsen 2001	-	F	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 36 weeks); HP:0002188 (Delayed CNS myelination)	2	1	Maximilian Weustenfeld
00081223	-	PubMed: Willemsen 2001	-	F	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 48); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 35 weeks); HP:0002188 (Delayed CNS myelination)	2	1	Maximilian Weustenfeld
00081224	-	PubMed: Willemsen 2001	-	M	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability)	1	1	Maximilian Weustenfeld
00081225	-	PubMed: Willemsen 2001	-	F	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability)	1	1	Maximilian Weustenfeld
00081226	-	PubMed: Willemsen 2001	-	M	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, moderate); HP:0000989 (Pruritus, moderate); HP:0001257 (Spasticity, mild); HP:0001249 (intellectual disability, IQ 83, mild); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	2	1	Maximilian Weustenfeld
00081227	-	PubMed: Willemsen 2001	-	F	no	Netherlands	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, mild); HP:0000989 (Pruritus, mild); HP:0001249 (intellectual disability, IQ 84, mild); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, <37 weeks); HP:0002188 (Delayed CNS myelination)	2	1	Maximilian Weustenfeld
00081228	-	PubMed: Burgueno-Montanés 2014	probably consanguinity	M	?	(Spain)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001250 (seizures); HP:0001264 (spastic diplegia); HP:0007663 (reduced visual acuity, 0,5 in both eyes); HP:0030507 (retinal crystals); HP:0007305 (CNS demyelination, periventricular white matter)	1	1	Maximilian Weustenfeld
00081229	-	PubMed: Incecik 2013	-	M	yes	(Turkey)	-	-	-	-	valproic acid	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001257 (Spasticity, unable to walk); HP:0001249 (intellectual disability, moderate); HP:0001250 (seizures); HP:0007305 (CNS demyelination, periventricular); HP:0001622 (premature birth, 32 weeks); HP:0006801 (hyperact. deep tendon refl.)	1	1	Maximilian Weustenfeld
00081230	-	PubMed: Incecik 2013, Journal: Incecik 2013	-	M	yes	(Turkey)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0001257 (Spasticity); HP:0002510 (spastic tetraplegia); HP:0001249 (intellectual disability);HP:0007305 (CNS demyelination, periventricular); HP:0030507 (retinal crystals); HP:0006801 (hyperact. deep tendon refl.)	1	1	Maximilian Weustenfeld
00081231	-	PubMed: Yis 2012	Patients 1 and 2 are monozygotic twins with the same (very similar) clinical presentation	?	yes	Turkey	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0001622 (premature birth, 34 weeks); HP:0001257 (Spasticity, more prominent in lower extremities); HP:0001249 (intellectual disability); HP:0002188 (Delayed CNS myelination, periventricular); HP:0006801 (hyperactive deep tendon refl.)	1	1	Maximilian Weustenfeld
00081232	-	PubMed: Yis 2012	-	F	yes	Turkey	-	-	-	-	"multiple antiepileptic medications"	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0001250 (seizures); HP:0001249 (intellectual disability); HP:0002188 (Delayed CNS myelination, periventricular); HP:0002510 (spastic tetraplegia); HP:0006801 (hyperactive deep tendon refl.)	1	1	Maximilian Weustenfeld
00081233	-	PubMed: Tachibana 2012, Journal: Tachibana 2012	-	F	?	(Japan)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001257 (Spasticity, more prominent in lower extremities); HP:0007266 (Cerebral dysmyelination, periventricular, very mild); abnormal H-MRS lipid peaks at 1.3 ppm (prominent) and 0.9 ppm (small, narrow); HP:0006801 (hyperact. deep tendon refl.)	2	1	Maximilian Weustenfeld
00081234	-	PubMed: Engelstad 2011, Journal: Engelstad 2011	-	F	yes	United States	-	-	-	-	therapy with etretinate, then isotretinoin (discontinued)	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0001622 (premature birth, 32 weeks); HP:0001250 (seizures, associated with hypocalcemia); HP:0001270 (motor delay); HP:0000750 (Delayed speech and language development); HP:0002510 (Spastic tetraplegia); HP:0001249 (intellectual disability); HP:0007266 (Cerebral dysmyelination); HP:0005750 (Contractures of the joints of the lower limbs); HP:0002015 (dysphagia); HP:0000498 (Blepharitis); no retinal abnormalities!	1	1	Maximilian Weustenfeld
00081235	-	PubMed: Engelstad 2011, Journal: Engelstad 2011	Mother: Irish and Cherokee Indian descent Father: English and American Indian descent	F	no	United States	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0009237 (Short 5th finger, bilaterally); HP:0001264 (Spastic diplegia); HP:0008936 (Muscular hypotonia of the trunk, problems with sitting); HP:0001250 (seizures); HP:0001622 (premature birth, 36 weeks); no ocular or visual abnormalities!	2	1	Maximilian Weustenfeld
00081236	-	PubMed: Sakai 2010	-	F	no	India	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0002510 (Spastic tetraplegia); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals, "white dots")	1	1	Maximilian Weustenfeld
00081237	-	PubMed: Sakai 2010	-	F	no	India	-	-	-	-	multiple antiepileptic medications	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0002510 (Spastic tetraplegia, severe); HP:0001263 (Global developmental delay); HP:0001249 (intellectual disability, severe); HP:0001250 (seizures); HP:0030507 (retinal crystals, "white dots"); HP:0000613 (photophobia, severe); HP:0000316 (hypertelorism); HP:0000268 (Dolichocephaly); HP:0000527 (Long eyelashes); HP:0010743 (short metatarsal, D3,D4 and D5); HP:0002267 (Exaggerated startle response); HP:0007266 (Cerebral dysmyelination)	1	1	Maximilian Weustenfeld
00081238	Pat13;Pat1	PubMed: Levisohn 1991, PubMed: Carney 2004, Journal: Carney 2004, PubMed: Rizzo 2010, Journal: Rizzo 2010	probably consanguineous parents	M	?	United States	-	-	-	-	-	SLS	HP:0007503 (generalized ichthyosis); "neurologic symptoms typical of SLS"; HP:0001264 (spastic diplegia); HP:0001249 (intellectual disability, severe); more phenotype data available: PMID 1836061	1	1	Maximilian Weustenfeld
00081239	-	PubMed: Rizzo 2010, Journal: Rizzo 2010	more phenotype data available: PMID 1836061	F	?	United States	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); "neurologic symptoms typical of SLS"	1	1	Maximilian Weustenfeld
00081240	-	PubMed: Rizzo 2010, Journal: Rizzo 2010	-	M	?	United States	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); "neurologic symptoms typical of SLS"	1	1	Maximilian Weustenfeld
00081241	-	PubMed: Rizzo 2010, Journal: Rizzo 2010	-	F	?	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); "neurologic symptoms typical of SLS"	1	1	Maximilian Weustenfeld
00081242	-	PubMed: Rizzo 2010, Journal: Rizzo 2010	sibling of Pat8 (same paper)	M	?	United States	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); "neurologic symptoms typical of SLS"	1	1	Maximilian Weustenfeld
00081243	-	PubMed: Rizzo 2010, Journal: Rizzo 2010	-	M	?	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); "neurologic symptoms typical of SLS"	1	1	Maximilian Weustenfeld
00081244	-	PubMed: Rizzo 2010, Journal: Rizzo 2010	sibling of Pat7 (same paper)	F	?	United States	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); "neurologic symptoms typical of SLS"	1	1	Maximilian Weustenfeld
00081245	-	PubMed: Rizzo 2010, Journal: Rizzo 2010	-	F	?	United States	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); "neurologic symptoms typical of SLS"	1	1	Maximilian Weustenfeld
00081246	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	oral acitretin (25mg/day), creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity); HP:0001249 (intellectual disability, with severe speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081247	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	oral acitretin (10mg/week), creams	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (moderate); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081248	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	oral acitretin (20mg/day), creams	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081249	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	oral acitretin (10mg/day), creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (moderate); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081250	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	oral acitretin (10mg/day), creams containing propylene glycol	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (moderate); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with mild speech disorder); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081251	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	oral acitretin (20mg/day), creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000982 (Palmoplantar keratoderma); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, moderate); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081252	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	oral acitretin (10mg/day), creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081253	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	oral acitretin (25mg/day), creams containing propylene glycol	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081254	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	sibling of patient 18 (same paper)	M	?	Sweden	-	-	-	-	oral acitretin (10mg/day), creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081255	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081256	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081257	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	creams containing lactic acid and propylene glycol	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081258	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	oral acitretin (10mg/day), creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081259	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	oral acitretin (10mg/day), creams containing propylene glycol and lactic acid	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081260	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	oral acitretin (25mg/day), creams containing propylene glycol and lactic acid	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081261	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	Sibling of patient 9 (same paper)	F	?	Sweden	-	-	-	-	oral acitretin (10mg/day), creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0001250 (seizures); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081262	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	creams	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, moderate); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, mild); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0001250 (seizures); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081263	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	oral acitretin (10mg/day), creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081264	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	oral acitretin (25mg/day), creams	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081266	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	oral acitretin (25mg/day), creams	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081267	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with severe speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081268	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	M	?	Sweden	-	-	-	-	creams containing urea	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, moderate); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, mild); HP:0001249 (intellectual disability, mild, no speech disorder!); HP:0001250 (seizures); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081269	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	creams containing lactic acid and propylene glycol	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081270	-	PubMed: Ganemo 2009, Journal: Ganemo 2009	-	F	?	Sweden	-	-	-	-	creams containing lactic acid and propylene glycol	SLS	HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081274	-	PubMed: Didona 2007, Journal: Didona 2007	-	F	?	Italy	-	-	-	-	surgical correction of leg contractures at 7 years of age	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, severe); HP:0001249 (intellectual disability, mild)	1	1	Maximilian Weustenfeld
00081275	-	PubMed: Didona 2007, Journal: Didona 2007	-	M	?	Italy	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, mild); HP:0001249 (intellectual disability, mild)	2	1	Maximilian Weustenfeld
00081279	-	PubMed: Sakai 2006	-	F	no	Japan	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0002510 (Spastic tetraplegia); HP:0001622 (premature birth, 34 weeks); HP:0001249 (intellectual disability); HP:0001250 (seizures); HP:0030507 (retinal crystals);HP:0007266 (Cerebral dysmyelination, periventricular)	2	1	Maximilian Weustenfeld
00081280	-	PubMed: Auada 2006, Journal: Auada 2006	-	F	yes	Brazil	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0003781 (Excessive salivation)	1	1	Maximilian Weustenfeld
00081281	-	PubMed: Auada 2006, Journal: Auada 2006	-	F	yes	Brazil	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0003781 (Excessive salivation)	1	1	Maximilian Weustenfeld
00081282	-	PubMed: Auada 2006, Journal: Auada 2006	-	M	yes	Brazil	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, moderate); HP:0000989 (Pruritus, moderate); HP:0001249 (intellectual disability, moderate); HP:0002385 (paraparesis, ambulatory with support); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia)	1	1	Maximilian Weustenfeld
00081283	-	PubMed: Auada 2006, Journal: Auada 2006	sister of patients 5 and 6; cousin of patient 7 and 8 (same paper)	F	no	Brazil	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, moderate); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081284	-	PubMed: Auada 2006, Journal: Auada 2006	sister of patients 5 and 6; cousin of patient 7 and 8 (same paper)	F	no	Brazil	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, moderate); HP:0001249 (intellectual disability, moderate); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081285	-	PubMed: Auada 2006, Journal: Auada 2006	sister of patients 5 and 6; cousin of patient 7 and 8 (same paper)	F	no	Brazil	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, moderate); HP:0000989 (Pruritus); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081286	-	PubMed: Auada 2006, Journal: Auada 2006	cousin of patients 4,5,6 (same paper)	F	no	Brazil	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0001249 (intellectual disability, moderate); HP:0002385 (paraparesis, ambulatory with support); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0000613 (photophobia); HP:0007663 (Reduced visual acuity); HP:0000821 (Hypothyroidism)	1	1	Maximilian Weustenfeld
00081287	-	PubMed: Auada 2006, Journal: Auada 2006	cousin of patients 4,5,6 (same paper)	M	no	Brazil	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, moderate); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0000613 (photophobia); HP:0007663 (Reduced visual acuity); HP:0000821 (Hypothyroidism)	1	1	Maximilian Weustenfeld
00081288	-	PubMed: Auada 2006, Journal: Auada 2006	-	M	yes	Brazil	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, moderate); HP:0000989 (Pruritus); HP:0001249 (intellectual disability, moderate); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0030507 (retinal crystals); HP:0000613 (photophobia)	1	1	Maximilian Weustenfeld
00081292	-	PubMed: Lossos 2006, Journal: Lossos 2006	Patients 1-6 of this paper are siblings	F	yes	Israel	Arab	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, Extremities: severe, Trunk: severe Face: mild); HP:0002313 (Spastic paraparesis, moderate, moderate gait abnormality); HP:0005750 (Contractures of the joints of the lower limbs, mild) HP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); HP:0007663 (Reduced visual acuity, right: 6/12, left: 6/18); HP:0030507 (retinal crystals); HP:0000551 (Abnormality of color vision, mild); HP:0007266 (Cerebral dysmyelination, moderate, frontal, parietal and periventricular); H-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 1.3)	1	1	Maximilian Weustenfeld
00081293	-	PubMed: Lossos 2006, Journal: Lossos 2006	Patients 1-6 of this paper are siblings	M	yes	Israel	Arab	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, Extremities: severe, Trunk: severe); HP:0002313 (Spastic paraparesis, moderate, moderate gait abnormality); HP:0005750 (Contractures of the joints of the lower limbs, moderate) HP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); HP:0007663 (Reduced visual acuity, right: 6/36, left: 6/18); HP:0030507 (retinal crystals); HP:0000551 (Abnormality of color vision, moderate)	1	1	Maximilian Weustenfeld
00081294	-	PubMed: Lossos 2006, Journal: Lossos 2006	Patients 1-6 of this paper are siblings	F	yes	Israel	Arab	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, Extremities: moderate, Trunk: moderate, Face: mild); HP:0002313 (Spastic paraparesis, severe, marked gait disturbance); HP:0005750 (Contractures of the joints of the lower limbs, moderate) HP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); HP:0007663 (Reduced visual acuity, right: 6/36, left: 6/36); HP:0030507 (retinal crystals); HP:0007266 (Cerebral dysmyelination, mild, frontal, occipital and periventricular); H-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 1.2)	1	1	Maximilian Weustenfeld
00081295	-	PubMed: Lossos 2006, Journal: Lossos 2006	Patients 1-6 of this paper are siblings	F	yes	Israel	Arab	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, Extremities: moderate, Trunk: severe Face: mild); HP:0002313 (Spastic paraparesis, severe, marked gait disturbance, wheelchair); HP:0005750 (Contractures of the joints of the lower limbs, moderate) HP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); HP:0007663 (Reduced visual acuity, right: 6/18, left: 6/24); HP:0030507 (retinal crystals); HP:0000551 (Abnormality of color vision, mild); HP:0007266 (Cerebral dysmyelination, severe, frontal, parietal, temporal, occipital and periventricular); H-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 0.7)	1	1	Maximilian Weustenfeld
00081296	-	PubMed: Lossos 2006, Journal: Lossos 2006	Patients 1-6 of this paper are siblings	M	yes	Israel	Arab	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, Extremities: severe, Trunk: severe); HP:0002313 (Spastic paraparesis, severe, marked gait disturbance); HP:0005750 (Contractures of the joints of the lower limbs, moderate) HP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); HP:0007663 (Reduced visual acuity, right: 6/18, left: 6/36); HP:0030507 (retinal crystals)	1	1	Maximilian Weustenfeld
00081297	-	PubMed: Lossos 2006, Journal: Lossos 2006	Patients 1-6 of this paper are siblings	M	yes	Israel	Arab	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, Extremities: moderate, Trunk: mild, Face: mild); HP:0002313 (Spastic paraparesis, moderate, moderate gait abnormality); HP:0005750 (Contractures of the joints of the lower limbs, moderate) HP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); HP:0007663 (Reduced visual acuity, left: 6/36); HP:0030507 (retinal crystals, severe); HP:0000551 (Abnormality of color vision, moderate); HP:0007266 (Cerebral dysmyelination, moderate, frontal, occipital and periventricular); H-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 0.5)	1	1	Maximilian Weustenfeld
00081298	-	PubMed: Shibaki 2004, Journal: Shibaki 2004	sibling of Pat2 (same paper)	F	?	Japan	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0002313 (Spastic paraparesis); HP:0001276 (Hypertonia, lower limbs); HP:0007266 (Cerebral dysmyelination, post angular area of left parietal lobe)	2	1	Maximilian Weustenfeld
00081299	-	PubMed: Shibaki 2004, Journal: Shibaki 2004	sibling of Pat1 (same paper)	M	?	Japan	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, brown-colored pigmentation); HP:0001249 (intellectual disability); HP:0002313 (Spastic paraparesis)	2	1	Maximilian Weustenfeld
00081300	Pat1	PubMed: Carney 2004, Journal: Carney 2004	-	?	?	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, ambulatory); HP:0001249 (intellectual disability, mild)	2	1	Maximilian Weustenfeld
00081301	Pat2	PubMed: Carney 2004, Journal: Carney 2004	probably consanguineous parents	?	-	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis, collodion membrane at birth); HP:0001264 (Spastic diplegia, non-ambulatory); HP:0001249 (intellectual disability)	1	1	Maximilian Weustenfeld
00081302	Pat3	PubMed: Carney 2004, Journal: Carney 2004	probably consanguineous parents	?	-	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia); HP:0001249 (intellectual disability)	1	1	Maximilian Weustenfeld
00081303	Pat4	PubMed: Carney 2004, Journal: Carney 2004	probably consanguineous parents	?	-	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, non-ambulatory); HP:0001249 (intellectual disability, moderate)	1	1	Maximilian Weustenfeld
00081304	Pat5	PubMed: Carney 2004, Journal: Carney 2004	-	?	?	United States	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, non-ambulatory); HP:0001249 (intellectual disability, mild)	2	1	Maximilian Weustenfeld
00081305	Pat7	PubMed: Carney 2004, Journal: Carney 2004	probably consanguineous parents	?	-	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, ambulatory); HP:0001249 (intellectual disability, moderate)	1	1	Maximilian Weustenfeld
00081306	Pat8	PubMed: Carney 2004, Journal: Carney 2004	-	?	-	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, ambulatory); HP:0001249 (intellectual disability)	2	1	Maximilian Weustenfeld
00081307	Pat9	PubMed: Carney 2004, Journal: Carney 2004	fetus probably consanguineous parents	?	-	(United States)	-	-	-	-	-	SLS	fetus! no phenotype information available	1	1	Maximilian Weustenfeld
00081309	Pat10	PubMed: Carney 2004, Journal: Carney 2004	probably consanguineous parents	?	-	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia); HP:0001249 (intellectual disability)	1	1	Maximilian Weustenfeld
00081310	Pat11	PubMed: Carney 2004, Journal: Carney 2004	fetus probably consanguineous parents	?	-	(United States)	-	-	-	-	-	SLS	fetus! no phenotype information available	1	1	Maximilian Weustenfeld
00081311	Pat12	PubMed: Carney 2004, Journal: Carney 2004	probably consanguineous parents	?	-	(United States)	-	-	-	-	-	SLS	HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia); HP:0001249 (intellectual disability, moderate)	1	1	Maximilian Weustenfeld
00081313	-	PubMed: Cubo 2000, Journal: Cubo 2000	patient of "Caucasian, non-Jewish descent"	M	?	United States	-	-	-	-	"started on several medications including benztropine, tryhexyphenidil, levodopa/carbidopa, baclofen, clonazepam, and diazepam without benefit"	SLS	HP:0007503 (Generalized Ichthyosis, severe); HP:0007325 (Generalized dystonia, severe); HP:0001257 (Spasticity, severe, with "twisting spasms"); HP:0008936 (Muscular hypotonia of the trunk, severe); HP:0001347 (Hyperreflexia, both lower limbs and right arm); HP:0002312 (Clumsiness); HP:0000369 (low-set ears); HP:0012758 (Neurodevelopmental delay, severe); HP:0001249 (intellectual disability, severe); HP:0001622 (premature birth, 36 weeks); HP:0007305 (CNS demyelination, frontal, parietal, occipital, periventricular)	2	1	Maximilian Weustenfeld

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Global Variome shared LOVD

ALDH3A2 (aldehyde dehydrogenase 3 family, member A2)