MRD26
MCID: MNT212
MIFTS: 36

Mental Retardation, Autosomal Dominant 26 (MRD26)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 26

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 26:

Name: Mental Retardation, Autosomal Dominant 26 57 72 29 6 70
Mrd26 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 26 12
Autism Spectrum Disorder Due to Auts2 Deficiency 58
Mental Retardation, Autosomal Dominant, Type 26 39
Autosomal Dominant Mental Retardation 26 12
Asd Due to Auts2 Deficiency 58
Auts2 Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
autism spectrum disorder due to auts2 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable features
dysmorphic features may be subtle


HPO:

31
mental retardation, autosomal dominant 26:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Dominant 26

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 26: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms.

MalaCards based summary : Mental Retardation, Autosomal Dominant 26, also known as mrd26, is related to alacrima, achalasia, and mental retardation syndrome and autism spectrum disorder. An important gene associated with Mental Retardation, Autosomal Dominant 26 is AUTS2 (Activator Of Transcription And Developmental Regulator AUTS2). Affiliated tissues include brain and heart, and related phenotypes are intellectual disability and delayed speech and language development

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of AUTS2 on chromosome 7q11.22.

More information from OMIM: 615834 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 26

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 26 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 29.7 KMT2D AUTS2
2 autism spectrum disorder 29.5 KMT2D AUTS2
3 microcephaly 10.1
4 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
5 autosomal dominant non-syndromic intellectual disability 9.6 KMT2D AUTS2

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 26:



Diseases related to Mental Retardation, Autosomal Dominant 26

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 26

Human phenotypes related to Mental Retardation, Autosomal Dominant 26:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
7 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
11 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
12 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
13 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
14 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
15 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
16 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
17 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
18 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
19 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
20 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
21 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
22 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
23 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
24 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
25 sound sensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0025112
26 repetitive compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0008762
27 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
28 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
29 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
30 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
31 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
32 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
33 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
34 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
35 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
36 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
37 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
38 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
39 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
40 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
41 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
42 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
43 narrow palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004283
44 joint contracture of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009183
45 prominent nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0005274
46 decreased palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0006184
47 periauricular skin pits 58 31 occasional (7.5%) Occasional (29-5%) HP:0100277
48 thick vermilion border 31 occasional (7.5%) HP:0012471
49 wide mouth 31 occasional (7.5%) HP:0000154
50 seizure 31 occasional (7.5%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
speech delay
delayed psychomotor development
learning difficulties
hypertonia (in some patients)
more
Head And Neck Eyes:
ptosis
hypertelorism
strabismus
downslanting palpebral fissures
high-arched eyebrows
more
Growth Height:
short stature

Head And Neck Face:
short philtrum

Head And Neck Nose:
prominent nasal tip
broad nasal base
deep nasal bridge

Growth Weight:
low birth weight

Skeletal:
joint contractures (in some patients)

Skeletal Hands:
shallow palmar creases

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal Feet:
tight heel cords
arched feet
foot misalignment

Head And Neck Mouth:
wide mouth (in some patients)
thick lips (in some patients)
narrow mouth (in some patients)

Clinical features from OMIM®:

615834 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 26:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 AUTS2 KMT2D

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 26

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 26

Genetic Tests for Mental Retardation, Autosomal Dominant 26

Genetic tests related to Mental Retardation, Autosomal Dominant 26:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 26 29 AUTS2

Anatomical Context for Mental Retardation, Autosomal Dominant 26

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 26:

40
Brain, Heart

Publications for Mental Retardation, Autosomal Dominant 26

Articles related to Mental Retardation, Autosomal Dominant 26:

(show all 12)
# Title Authors PMID Year
1
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. 6 57 61
25205402 2015
2
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. 6 61 57
23332918 2013
3
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. 57 61
27075013 2016
4
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. 57
22872102 2013
5
Germ cell mosaicism for AUTS2 exon 6 deletion. 61
33577136 2021
6
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. 61
33346930 2021
7
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. 61
32424618 2020
8
Ancestry of the AUTS2 family-A novel group of polycomb-complex proteins involved in human neurological disease. 61
33306672 2020
9
A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome. 61
31554716 2019
10
A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2. 61
31788251 2019
11
Neuronal Migration and AUTS2 Syndrome. 61
28505103 2017
12
AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype. 61
27531620 2016

Variations for Mental Retardation, Autosomal Dominant 26

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 26:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AUTS2 and overlap with 7 gene(s) NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del Deletion Pathogenic 133343 GRCh37:
GRCh38: 7:69899499-70435751
2 AUTS2 and overlap with 1 gene(s) NC_000007.14:g.(70435782_70698569)_(70766334_70768023)del Deletion Pathogenic 133344 GRCh37:
GRCh38: 7:70435782-70768023
3 AUTS2 NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter) SNV Pathogenic 666574 rs1585645641 GRCh37: 7:70228014-70228014
GRCh38: 7:70763028-70763028
4 AUTS2 NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs) Deletion Pathogenic 802324 rs1585667374 GRCh37: 7:70239064-70239065
GRCh38: 7:70774078-70774079
5 AUTS2 NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs) Duplication Pathogenic 559629 rs1554401434 GRCh37: 7:69364317-69364318
GRCh38: 7:69899331-69899332
6 AUTS2 Deletion Pathogenic 981243 GRCh37: 7:70138876-70223604
GRCh38:
7 AUTS2 NM_015570.4(AUTS2):c.1547dup (p.Pro517fs) Duplication Pathogenic 807381 rs1585653028 GRCh37: 7:70231175-70231176
GRCh38: 7:70766189-70766190
8 AUTS2 NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) SNV Pathogenic 489014 rs1554480537 GRCh37: 7:70228059-70228059
GRCh38: 7:70763073-70763073
9 AUTS2 NM_015570.4(AUTS2):c.742+1G>A SNV Pathogenic 546070 rs1554464807 GRCh37: 7:70163607-70163607
GRCh38: 7:70698621-70698621
10 AUTS2 NM_015570.4(AUTS2):c.857_858del (p.Lys286fs) Deletion Pathogenic 219193 rs864321694 GRCh37: 7:70227969-70227970
GRCh38: 7:70762983-70762984
11 AUTS2 and overlap with 1 gene(s) NC_000007.13:g.(69985843_69991859)_(70221259_70228020)del Deletion Pathogenic 219194 GRCh37: 7:69985843-70228020
GRCh38: 7:70520857-70763034
12 AUTS2 NM_015570.4(AUTS2):c.1534dup (p.Ala512fs) Duplication Pathogenic 870583 GRCh37: 7:70231161-70231162
GRCh38: 7:70766175-70766176
13 AUTS2 NM_015570.4(AUTS2):c.2T>C (p.Met1Thr) SNV Pathogenic 1033782 GRCh37: 7:69064641-69064641
GRCh38: 7:69599655-69599655
14 AUTS2 NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro) SNV Likely pathogenic 632598 rs1563183469 GRCh37: 7:70231231-70231231
GRCh38: 7:70766245-70766245
15 AUTS2 NM_015570.4(AUTS2):c.1604A>C (p.His535Pro) SNV Likely pathogenic 807382 rs1585653240 GRCh37: 7:70231235-70231235
GRCh38: 7:70766249-70766249
16 AUTS2 NM_015570.4(AUTS2):c.1775del (p.Pro592fs) Deletion Likely pathogenic 988722 GRCh37: 7:70236570-70236570
GRCh38: 7:70771584-70771584
17 KMT2D NM_003482.3(KMT2D):c.1769dup (p.Met590fs) Duplication Likely pathogenic 620002 rs1565819425 GRCh37: 12:49445696-49445697
GRCh38: 12:49051913-49051914
18 AUTS2 NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter) SNV Likely pathogenic 827791 rs1585645384 GRCh37: 7:70227897-70227897
GRCh38: 7:70762911-70762911
19 AUTS2 NM_015570.4(AUTS2):c.1486dup (p.Gln496fs) Duplication Likely pathogenic 224147 rs869312878 GRCh37: 7:70231116-70231117
GRCh38: 7:70766130-70766131
20 AUTS2 NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr) SNV Likely pathogenic 584456 rs1563183492 GRCh37: 7:70231234-70231234
GRCh38: 7:70766248-70766248
21 AUTS2 NM_015570.4(AUTS2):c.1247A>G (p.Gln416Arg) SNV Uncertain significance 547994 rs143679158 GRCh37: 7:70229770-70229770
GRCh38: 7:70764784-70764784
22 AUTS2 NM_015570.4(AUTS2):c.916A>G (p.Ile306Val) SNV Uncertain significance 982997 GRCh37: 7:70228029-70228029
GRCh38: 7:70763043-70763043
23 AUTS2 NM_015570.4(AUTS2):c.3707G>A (p.Arg1236Lys) SNV Uncertain significance 930612 GRCh37: 7:70255909-70255909
GRCh38: 7:70790923-70790923
24 AUTS2 NM_015570.4(AUTS2):c.3632C>A (p.Thr1211Asn) SNV Uncertain significance 930760 GRCh37: 7:70255834-70255834
GRCh38: 7:70790848-70790848
25 AUTS2 NM_015570.4(AUTS2):c.607C>T (p.Arg203Trp) SNV Uncertain significance 931244 GRCh37: 7:69583202-69583202
GRCh38: 7:70118216-70118216
26 AUTS2 NM_015570.4(AUTS2):c.3377_3379ACC[9] (p.His1133dup) Microsatellite Uncertain significance 374065 rs538005366 GRCh37: 7:70255576-70255577
GRCh38: 7:70790590-70790591
27 AUTS2 NM_015570.4(AUTS2):c.932C>G (p.Thr311Arg) SNV Uncertain significance 931890 GRCh37: 7:70228045-70228045
GRCh38: 7:70763059-70763059
28 AUTS2 Duplication Uncertain significance 560074 GRCh37: 7:69503431-69901030
GRCh38:
29 AUTS2 NM_015570.4(AUTS2):c.1727G>A (p.Arg576Gln) SNV Uncertain significance 996089 GRCh37: 7:70233047-70233047
GRCh38: 7:70768061-70768061
30 AUTS2 NM_015570.4(AUTS2):c.2693C>G (p.Ser898Trp) SNV Uncertain significance 425415 rs534033649 GRCh37: 7:70254895-70254895
GRCh38: 7:70789909-70789909
31 AUTS2 NM_015570.4(AUTS2):c.1906A>G (p.Thr636Ala) SNV Uncertain significance 1027646 GRCh37: 7:70240346-70240346
GRCh38: 7:70775360-70775360
32 AUTS2 NM_015570.4(AUTS2):c.146C>T (p.Ala49Val) SNV Uncertain significance 1030518 GRCh37: 7:69064785-69064785
GRCh38: 7:69599799-69599799
33 AUTS2 NM_015570.4(AUTS2):c.94G>T (p.Ala32Ser) SNV Uncertain significance 1030519 GRCh37: 7:69064733-69064733
GRCh38: 7:69599747-69599747
34 AUTS2 NM_015570.4(AUTS2):c.1766G>C (p.Gly589Ala) SNV Uncertain significance 1030520 GRCh37: 7:70236566-70236566
GRCh38: 7:70771580-70771580
35 AUTS2 NM_015570.4(AUTS2):c.1193G>C (p.Ser398Thr) SNV Likely benign 982730 GRCh37: 7:70228306-70228306
GRCh38: 7:70763320-70763320
36 AUTS2 NM_015570.4(AUTS2):c.2215G>A (p.Ala739Thr) SNV Likely benign 982824 GRCh37: 7:70249996-70249996
GRCh38: 7:70785010-70785010
37 AUTS2 NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) SNV Likely benign 377186 rs149961458 GRCh37: 7:69583206-69583206
GRCh38: 7:70118220-70118220
38 AUTS2 NM_015570.4(AUTS2):c.385C>G (p.Leu129Val) SNV Likely benign 701814 rs145480547 GRCh37: 7:69364347-69364347
GRCh38: 7:69899361-69899361
39 AUTS2 NM_015570.4(AUTS2):c.1295C>A (p.Pro432His) SNV Benign 425414 rs767529359 GRCh37: 7:70229818-70229818
GRCh38: 7:70764832-70764832

Expression for Mental Retardation, Autosomal Dominant 26

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 26.

Pathways for Mental Retardation, Autosomal Dominant 26

GO Terms for Mental Retardation, Autosomal Dominant 26

Biological processes related to Mental Retardation, Autosomal Dominant 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 8.62 KMT2D AUTS2

Sources for Mental Retardation, Autosomal Dominant 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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