Global Variome shared LOVD
LOVD v.3.0 Build 28 [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
Create a new gene entry
View all transcripts
Create a new transcript information entry
View all variants
View all variants affecting transcripts
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
Create a new disease information entry
View available phenotype columns
View all screenings
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotypes for disease #00187 (MRX;IDX (mental retardation, X-linked (MRX, intellectual disability (IDX))))
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.
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
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
Age/Diagnosis
: age diagnosis was confirmed
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
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
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Birth_Details
: birth details individual: gestational age (weeks), premature birth (HP:0001622, <37w); birth weight (in g/SD); birth length (in cm/SD); OFC at birth (in cm/SD)
Protein
: result from protein staining
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.
1901 entries on 20 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Birth_Details
Protein
Owner
Individual ID
0000001938
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00003120
0000001939
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00003121
0000001940
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00003122
0000001941
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00003123
0000001942
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00003124
0000001943
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00003125
0000001944
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00003126
0000003023
-
-
-
Unknown
-
-
-
-
-
-
Lucy Raymond
00004306
0000003024
-
-
-
Unknown
-
-
-
-
-
-
Lucy Raymond
00004307
0000003025
-
-
-
Unknown
-
-
-
-
-
-
Lucy Raymond
00004308
0000015270
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016919
0000015271
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016920
0000015272
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016921
0000015274
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00000004
0000015275
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00016924
0000015298
see paper; {PMID:Turner 2003:12599187}
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00016931
0000015299
moderate-severe intellectual disability, occasional aggressive outbursts, microcephaly, height 180 cm (75th centile), weight 65 kg (25-50th centile), OFC 52 cm (<3rd centile); 3 affected male maternal cousins, 1 hydrocephalus died shortly after birth, 1 died age 3y, 1 moderate intellectual disability
intellectual disability
-
Familial, X-linked recessive
25y
-
-
-
-
-
Andreas Tzschach
00016932
0000015311
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016952
0000015312
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016953
0000015313
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016954
0000015314
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016955
0000015315
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016956
0000015316
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016957
0000015317
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016958
0000015318
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016959
0000015319
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016960
0000015320
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016961
0000015321
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016962
0000015322
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016963
0000015323
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016964
0000015324
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016965
0000015325
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016966
0000015326
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016967
0000015327
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016968
0000015328
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016969
0000015329
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016970
0000015330
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016971
0000015331
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016972
0000015332
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016973
0000015333
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016974
0000015334
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016975
0000015335
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016976
0000015336
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016977
0000015337
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016978
0000015338
see paper; ...
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00016979
0000015339
moderate to severe ID, seizures in some males from adolescence; female carriers with varying level IS; see paper ...
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00016980
0000015340
all affected males remained non-syndromic with general good health; 2 males (III6,IV22) developed psychiatric problems and V5 has infrequent seizures; carrier females were less academically ablecompared to their non-carrier siblings; majority carrier F are well (1 developed schizophrenia)
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00016981
0000015341
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016982
0000015342
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016983
0000015343
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016984
0000015344
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016985
0000015345
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016986
0000015346
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016987
0000015347
-
-
-
Familial
-
-
-
-
-
-
Lucy Raymond
00016988
0000015348
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016989
0000015349
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016990
0000015350
-
-
-
Familial
-
-
-
-
-
-
Lucy Raymond
00016991
0000015351
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00016992
0000015355
-
-
-
Unknown
-
-
-
-
-
-
Birgit Neitzel
00016996
0000015356
-
-
-
Unknown
-
-
-
-
-
-
Birgit Neitzel
00016997
0000015357
-
-
-
Unknown
-
-
-
-
-
-
Birgit Neitzel
00016998
0000015358
-
-
-
Unknown
-
-
-
-
-
-
Birgit Neitzel
00016999
0000015359
-
-
-
Unknown
-
-
-
-
-
-
Birgit Neitzel
00017000
0000015360
-
-
-
Unknown
-
-
-
-
-
-
Johan den Dunnen
00017001
0000015361
-
-
-
Unknown
-
-
-
-
-
-
Johan den Dunnen
00017002
0000015365
moderate intellectual disability, macrocephaly (OFC 60 cm, >97th centile), short stature (height 163 cm, <3rd centile), cryptorchidism, submucous cleft palate surgically corrected, bilateral partial optic atrophy without deleterious effects on vision; maternal uncle similar clinical problems, no cleft palate, no optic atrophy
intellectual disability
-
Familial, X-linked recessive
17y
-
-
-
-
-
Andreas Tzschach
00017006
0000015366
moderate intellectual disability, macrocephaly, obesity
intellectual disability
-
Familial, X-linked recessive
30y
-
-
-
-
-
Andreas Tzschach
00017007
0000015367
intellectual disability, borderline short stature (height 142 cm, 3rd centile), borderline microcephaly (OFC 52 cm, 3rd-10th centile), normal weight (40 kg, 25th centile), body proportions gave impression central obesity; 12y-hearing loss; coarse face, small ears, broad nose, bulbous nasal tip, epicanthus, thick lips, everted lower lip, brachydactyly, bilateral 2/3 toe syndactyly, sandal gap
intellectual disability
-
Isolated (sporadic)
13y
-
-
-
-
-
Andreas Tzschach
00017008
0000015373
severe non-syndromic intellectual disability
intellectual disability
-
Unknown
-
-
-
-
-
-
Andreas Tzschach
00017014
0000015374
severe intellectual disability, epilepsy, borderline macrocephaly
intellectual disability
-
Unknown
-
-
-
-
-
-
Andreas Tzschach
00017015
0000015375
severe intellectual disability, OFC 90th centile, short stature, strabismus; younger brothe short stature, moderate intellectual disability, OFC 10th centile, cryptorchidism
intellectual disability
-
Familial, X-linked
14y
-
-
-
-
-
Andreas Tzschach
00017016
0000015376
brothers moderate intellectual disability, short stature, microcephaly; mother learning problems
intellectual disability
-
Familial, X-linked recessive
-
-
-
-
-
-
Andreas Tzschach
00017017
0000015377
brothers mild-moderate intellectual disability, cryptorchidism, strabismus, slightly ataxic gait, borderline obesity, normal height, normal OFC, MRI brain cerebellar hypoplasia, slight atrophy frontal cortex; younger brother multiple cysts left kidney
intellectual disability
-
Familial, X-linked recessive
-
-
-
-
-
-
Andreas Tzschach
00017018
0000015378
moderate intellectual disability, facial dysmorphism, hypertelorism, epicanthus; mothe mild intellectual disability, psychiatric problems; maternal uncle had severe intellectual disability
intellectual disability
-
Familial, X-linked recessive
-
-
-
-
-
-
Andreas Tzschach
00017019
0000015379
moderate intellectual disability, normal body measurements; 10y-surgery for left-sided ureteropelvic junction obstruction, postoperative keloid; mild cutaneous syndactyly 2nd and 3rd toes, no malformations, no significant dysmorphic signs; 3 maternal aunt cousins similar phenotype, strabismus (1/4)
intellectual disability
MRXSR
Familial, X-linked recessive
15y
-
-
-
-
-
Andreas Tzschach
00017020
0000015380
mild-moderate intellectual disability, 3y-seizures, no malformations, no facial dysmorphism, MRI brain normal
intellectual disability
-
Familial, X-linked recessive
03y
-
-
-
-
-
Andreas Tzschach
00017021
0000015381
born 36w, low birth measurements, length 46 cm (<3rd centile), weight 2410 g (<3rd centile), OFC 32.5 cm (<3rd centile); psychomotor development severely retarded, 2y-seizures; 4y-not walk, no speech, strabismus, OFC 46 cm (3 cm below the 3rd centile)
intellectual disability
-
Unknown
-
-
-
-
-
-
Andreas Tzschach
00017022
0000015382
born at term, large body measurements, length, weight/OFC >97th centile, congenital heart disease, muscular hypotonia, feeding difficulties; first months seizures; psychomotor development severely retarded; MRI brain progressive brain atrophy
intellectual disability
-
Isolated (sporadic)
-
-
-
-
-
-
Andreas Tzschach
00017023
0000015383
severe intellectual disability, not able to walk, no speech, spastic paraplegia, dystonia, strabismus, optic atrophy, cryptorchidism, short stature (150 cm, <3rd centile), severely underweight (28 kg), OFC 54 cm (3rd-10th centile); 2y6m-MRI brain severely delayed myelination; thyroid parameters showed low T4, normal TSH, elevated T3
Allan-Herndon-Dudley syndrome
-
Familial, X-linked recessive
17y
-
-
-
-
-
Andreas Tzschach
00017024
0000015389
moderate intellectual disability, 6y-seizures; sister mild intellectual disability, 47y-short stature (height 148 cm, <3rd centile), microcephaly (OFC 50.5 cm, <3rd centile), obese (weight 87 kg), strabismus, hyperopia, no seizures; mother learning problems, 66y-died
intellectual disability
-
Familial, X-linked
48y
-
-
-
-
-
Andreas Tzschach
00017030
0000015392
moderate intellectual disability short stature (152 cm, <3rd centile), macrocephaly (59 cm), cryptorchidism, hypogenitalism, dental crowding, tapering fingers, facial dysmorphism, large ears, fleshy earlobes, synophrys, narrow palpebral fissures; sister learning problems, similar facial features
Börjeson-Forssman-Lehmann syndrome
-
Unknown
15y
-
-
-
-
-
Andreas Tzschach
00016861
0000016248
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00017895
0000016249
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00017896
0000016251
-
-
-
Isolated (sporadic)
-
-
-
-
-
-
Johan den Dunnen
00017898
0000016252
-
-
-
Familial, X-linked dominant
-
-
-
-
-
-
Johan den Dunnen
00017899
0000020327
moderate ID, nonsyndromic
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00024220
0000020328
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00024221
0000020329
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00024222
0000020330
degenerative eye disease
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00024223
0000020331
-
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00024224
0000021604
see paper
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00025489
0000021605
see paper {PMID:Carpenter 1999:10398241}
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00025490
0000021606
see paper; Fried syndrome, mental retardation, mild facial dysmorphism, calcifications of basal ganglia, hydrocephalus
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00025491
0000021607
see paper; {PMID:Fried 1973:04697849}, Fried syndrome
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00025492
0000021608
see paper, {PMID:Huang 1991:1746558}; mental retardation, Dandy-Walker malformation, basal ganglia disease, seizures
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00000406
0000021609
see paper
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Johan den Dunnen
00025493
0000021610
see paper
-
-
Isolated (sporadic)
-
-
-
-
-
-
Johan den Dunnen
00025494
0000021611
see paper; marked hypotonia first months of life, psychomotor retardation, severely delayed walking/speech development, unspecific dysmorphic facial feature
-
-
Isolated (sporadic)
-
-
-
-
-
-
Johan den Dunnen
00025495
0000021887
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00025771
0000021888
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
-
Familial, X-linked recessive
-
-
-
-
-
-
Lucy Raymond
00025772
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Powered by
LOVD v.3.0
Build 28
LOVD software ©2004-2022
Leiden University Medical Center