MRXSCH
MCID: MNT302
MIFTS: 35

Mental Retardation, X-Linked, Syndromic, Christianson Type (MRXSCH)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Christianson Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Christianson Type:

Name: Mental Retardation, X-Linked, Syndromic, Christianson Type 57 72 39 70
Mental Retardation Microcephaly Epilepsy and Ataxia Syndrome 72 6
Mental Retardation, X-Linked Syndromic, Christianson Type 57 13
X-Linked Angelman-Like Syndrome 58 72
Mrxsch 57 72
Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome 57
Angelman-Like Syndrome, X-Linked 57
Christianson Syndrome 58
Mrxs-Christianson 72

Characteristics:

Orphanet epidemiological data:

58
christianson syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
onset in infancy
progressive disorder
female carriers may be mildly affected
phenotypic similarities to angelman syndrome

Inheritance:
x-linked


HPO:

31
mental retardation, x-linked, syndromic, christianson type:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, X-Linked, Syndromic, Christianson Type

OMIM® : 57 Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014). (300243) (Updated 20-May-2021)

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Christianson Type, also known as mental retardation microcephaly epilepsy and ataxia syndrome, is related to christianson syndrome and microcephaly, and has symptoms including ataxia, ophthalmoplegia and sleep disturbances. An important gene associated with Mental Retardation, X-Linked, Syndromic, Christianson Type is SLC9A6 (Solute Carrier Family 9 Member A6). Affiliated tissues include eye, cerebellum and skeletal muscle, and related phenotypes are dysphagia and microcephaly

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked, syndromic, Christianson type: A syndrome characterized by profound mental retardation, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with Angelman syndrome.

Related Diseases for Mental Retardation, X-Linked, Syndromic, Christianson Type

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Christianson Type:



Diseases related to Mental Retardation, X-Linked, Syndromic, Christianson Type

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Christianson Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Christianson Type:

58 31 (showing 64, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 very rare (1%) Frequent (79-30%) HP:0002015
2 microcephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000252
3 strabismus 58 31 very rare (1%) Very frequent (99-80%) HP:0000486
4 absent speech 58 31 very rare (1%) Very frequent (99-80%) HP:0001344
5 cerebellar atrophy 58 31 very rare (1%) Very frequent (99-80%) HP:0001272
6 sleep disturbance 31 very rare (1%) HP:0002360
7 ataxia 31 very rare (1%) HP:0001251
8 open mouth 31 very rare (1%) HP:0000194
9 profound global developmental delay 31 very rare (1%) HP:0012736
10 drooling 31 very rare (1%) HP:0002307
11 hyperkinetic movements 31 very rare (1%) HP:0002487
12 interictal epileptiform activity 31 very rare (1%) HP:0011182
13 seizure 31 very rare (1%) HP:0001250
14 macrotia 58 31 Very frequent (99-80%) HP:0000400
15 mandibular prognathia 58 31 Occasional (29-5%) HP:0000303
16 thick eyebrow 58 31 Very frequent (99-80%) HP:0000574
17 ophthalmoplegia 58 31 Frequent (79-30%) HP:0000602
18 narrow face 58 31 Very frequent (99-80%) HP:0000275
19 long face 58 31 Very frequent (99-80%) HP:0000276
20 adducted thumb 58 31 Frequent (79-30%) HP:0001181
21 mutism 58 31 Frequent (79-30%) HP:0002300
22 truncal ataxia 58 31 Very frequent (99-80%) HP:0002078
23 neuronal loss in central nervous system 58 31 Very frequent (99-80%) HP:0002529
24 nystagmus 58 Frequent (79-30%)
25 developmental regression 58 Very frequent (99-80%)
26 bowel incontinence 31 HP:0002607
27 flexion contracture 31 HP:0001371
28 gastroesophageal reflux 58 Frequent (79-30%)
29 feeding difficulties in infancy 58 Frequent (79-30%)
30 stereotypy 58 Frequent (79-30%)
31 decreased muscle mass 58 Occasional (29-5%)
32 intellectual disability, severe 31 HP:0010864
33 skeletal muscle atrophy 31 HP:0003202
34 autism 58 Frequent (79-30%)
35 pectus excavatum 58 Frequent (79-30%)
36 cerebral cortical atrophy 58 Frequent (79-30%)
37 intellectual disability, progressive 31 HP:0006887
38 cachexia 58 Very frequent (99-80%)
39 aplasia/hypoplasia of the cerebellum 58 Very frequent (99-80%)
40 deeply set eye 58 Occasional (29-5%)
41 ventriculomegaly 58 Frequent (79-30%)
42 joint hyperflexibility 58 Occasional (29-5%)
43 abnormality of the thorax 58 Frequent (79-30%)
44 death in early adulthood 58 Occasional (29-5%)
45 dystonia 58 Frequent (79-30%)
46 narrow chest 31 HP:0000774
47 severe global developmental delay 58 Very frequent (99-80%)
48 arthrogryposis multiplex congenita 58 Occasional (29-5%)
49 decreased body weight 31 HP:0004325
50 abnormality of the nose 58 Occasional (29-5%)
51 aplasia/hypoplasia of the corpus callosum 58 Frequent (79-30%)
52 long nose 31 HP:0003189
53 gait ataxia 58 Frequent (79-30%)
54 intellectual disability, profound 58 Very frequent (99-80%)
55 generalized hypotonia 31 HP:0001290
56 generalized-onset seizure 58 Very frequent (99-80%)
57 slender finger 31 HP:0001238
58 urinary incontinence 31 HP:0000020
59 inappropriate laughter 58 Frequent (79-30%)
60 conspicuously happy disposition 58 Frequent (79-30%)
61 happy demeanor 31 HP:0040082
62 loss of ability to walk in first decade 31 HP:0006794
63 abnormal foot morphology 31 HP:0001760
64 photosensitive tonic-clonic seizure 31 HP:0007207

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
sleep disturbance
developmental regression
cerebellar atrophy
mutism
truncal ataxia
more
Head And Neck Head:
microcephaly

Head And Neck Mouth:
open mouth
drooling

Genitourinary Bladder:
urinary incontinence

Muscle Soft Tissue:
hypotonia
amyotrophy

Head And Neck Ears:
large ears

Head And Neck Face:
long, narrow face
square, prognathic jaw
pointed jaw

Skeletal Limbs:
contractures

Head And Neck Nose:
long, straight nose

Abdomen Gastrointestinal:
dysphagia
bowel incontinence
gastroesophageal reflux

Head And Neck Eyes:
ophthalmoplegia
bushy eyebrows
squint
eye movement abnormalities
deep, sunken eyes

Chest External Features:
narrow chest

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
autistic features
easily provoked laughter

Growth Other:
developmental delay

Skeletal Hands:
adducted thumbs
long, thin fingers

Skin Nails Hair Hair:
bushy eyebrows

Growth Weight:
low weight (third percentile)

Skeletal Feet:
long, thin toes

Clinical features from OMIM®:

300243 (Updated 20-May-2021)

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Christianson Type:


ataxia; ophthalmoplegia; sleep disturbances; ataxia, truncal

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Christianson Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Christianson Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Christianson Type

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Christianson Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Christianson Type:

40
Eye, Cerebellum, Skeletal Muscle

Publications for Mental Retardation, X-Linked, Syndromic, Christianson Type

Articles related to Mental Retardation, X-Linked, Syndromic, Christianson Type:

(showing 10, show less)
# Title Authors PMID Year
1
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. 57 6
27256868 2016
2
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. 6 57
25044251 2014
3
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. 6 57
20395263 2010
4
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. 6 57
18342287 2008
5
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. 57 6
10528855 1999
6
Natural history of Christianson syndrome. 57
20949524 2010
7
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome. 57
19471312 2009
8
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. 6
19619532 2009
9
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 57
19377476 2009
10
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. 61
21964919 2011

Variations for Mental Retardation, X-Linked, Syndromic, Christianson Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Christianson Type:

6 (showing 102, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC9A6 NM_006359.3(SLC9A6):c.764_769del (p.Glu255_Ser256del) Deletion Pathogenic 11476 rs886037619 GRCh37: X:135084330-135084335
GRCh38: X:136002171-136002176
2 SLC9A6 NM_006359.3(SLC9A6):c.1402C>T (p.Arg468Ter) SNV Pathogenic 11477 rs122461162 GRCh37: X:135106524-135106524
GRCh38: X:136024365-136024365
3 SLC9A6 NM_006359.3(SLC9A6):c.507+3_507+4delinsCC Indel Pathogenic 11478 rs730882187 GRCh37: X:135080347-135080348
GRCh38: X:135998188-135998189
4 SLC9A6 NM_006359.3(SLC9A6):c.512_513del (p.His171fs) Deletion Pathogenic 11479 rs730882188 GRCh37: X:135080645-135080646
GRCh38: X:135998486-135998487
5 SLC9A6 NM_006359.3(SLC9A6):c.916_924del (p.Gly306_Ala308del) Deletion Pathogenic 29949 rs398122849 GRCh37: X:135092713-135092721
GRCh38: X:136010554-136010562
6 SLC9A6 NM_006359.3(SLC9A6):c.1543G>T (p.Glu515Ter) SNV Pathogenic 92121 rs398123003 GRCh37: X:135112313-135112313
GRCh38: X:136030154-136030154
7 SLC9A6 NM_001042537.1(SLC9A6):c.183del (p.Lys61fs) Deletion Pathogenic 159931 rs587784398 GRCh37: X:135067844-135067844
GRCh38: X:135985685-135985685
8 SLC9A6 NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) SNV Pathogenic 159932 rs587784399 GRCh37: X:135126855-135126855
GRCh38: X:136044696-136044696
9 SLC9A6 NM_001042537:c.916delC Deletion Pathogenic 246605 GRCh37:
GRCh38:
10 SLC9A6 NM_006359.3(SLC9A6):c.786del (p.Ala263fs) Deletion Pathogenic 375585 rs1057519394 GRCh37: X:135084354-135084354
GRCh38: X:136002195-136002195
11 SLC9A6 NM_006359.3(SLC9A6):c.478_479AT[1] (p.Phe161fs) Microsatellite Pathogenic 627623 rs1603198063 GRCh37: X:135080315-135080316
GRCh38: X:135998156-135998157
12 SLC9A6 NM_006359.3(SLC9A6):c.1367-1G>A SNV Pathogenic 625179 rs1603215383 GRCh37: X:135106488-135106488
GRCh38: X:136024329-136024329
13 SLC9A6 NM_006359.3(SLC9A6):c.1569_1573del (p.Arg524fs) Deletion Pathogenic 807688 rs1603219805 GRCh37: X:135115588-135115592
GRCh38: X:136033429-136033433
14 SLC9A6 NM_001042537.1(SLC9A6):c.1148G>A (p.Gly383Asp) SNV Pathogenic 813744 rs782108464 GRCh37: X:135095508-135095508
GRCh38: X:136013349-136013349
15 SLC9A6 NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs) Microsatellite Pathogenic 949999 GRCh37: X:135104792-135104795
GRCh38: X:136022633-136022636
16 SLC9A6 NM_006359.3(SLC9A6):c.751_753CTT[1] (p.Leu252del) Microsatellite Likely pathogenic 804087 rs1603201557 GRCh37: X:135084320-135084322
GRCh38: X:136002161-136002163
17 SLC9A6 NM_006359.3(SLC9A6):c.1376G>A (p.Gly459Asp) SNV Likely pathogenic 577815 rs1569525357 GRCh37: X:135106498-135106498
GRCh38: X:136024339-136024339
18 SLC9A6 NM_001042537.1(SLC9A6):c.1299_1300del (p.Phe434fs) Deletion Likely pathogenic 418996 rs1064793575 GRCh37: X:135098865-135098866
GRCh38: X:136016706-136016707
19 SLC9A6 NM_006359.3(SLC9A6):c.803+1G>A SNV Likely pathogenic 432837 rs1556617455 GRCh37: X:135084373-135084373
GRCh38: X:136002214-136002214
20 SLC9A6 NM_001042537.1(SLC9A6):c.526-9_526-5del Deletion Likely pathogenic 207248 rs796053290 GRCh37: X:135080254-135080258
GRCh38: X:135998095-135998099
21 SLC9A6 NM_001042537.1(SLC9A6):c.680+3A>G SNV Uncertain significance 805479 rs372679456 GRCh37: X:135080720-135080720
GRCh38: X:135998561-135998561
22 SLC9A6 NM_001379110.1(SLC9A6):c.-56-21C>A SNV Uncertain significance 940098 GRCh37: X:135067741-135067741
GRCh38: X:135985582-135985582
23 SLC9A6 NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met) SNV Uncertain significance 942247 GRCh37: X:135081038-135081038
GRCh38: X:135998879-135998879
24 SLC9A6 NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser) SNV Uncertain significance 943113 GRCh37: X:135112295-135112295
GRCh38: X:136030136-136030136
25 SLC9A6 NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser) SNV Uncertain significance 945766 GRCh37: X:135126839-135126839
GRCh38: X:136044680-136044680
26 SLC9A6 NM_006359.3(SLC9A6):c.712A>G (p.Ile238Val) SNV Uncertain significance 646158 rs782677140 GRCh37: X:135084281-135084281
GRCh38: X:136002122-136002122
27 SLC9A6 NM_006359.3(SLC9A6):c.453T>G (p.Phe151Leu) SNV Uncertain significance 647660 rs1603198044 GRCh37: X:135080290-135080290
GRCh38: X:135998131-135998131
28 SLC9A6 NM_006359.3(SLC9A6):c.227_244del (p.Ile76_Leu81del) Deletion Uncertain significance 653174 rs1603184929 GRCh37: X:135067881-135067898
GRCh38: X:135985722-135985739
29 SLC9A6 NM_006359.3(SLC9A6):c.543A>G (p.Ala181=) SNV Uncertain significance 656614 rs781961294 GRCh37: X:135080676-135080676
GRCh38: X:135998517-135998517
30 SLC9A6 NM_006359.3(SLC9A6):c.7C>T (p.Arg3Trp) SNV Uncertain significance 657261 rs1556614701 GRCh37: X:135067668-135067668
GRCh38: X:135985509-135985509
31 SLC9A6 NM_006359.3(SLC9A6):c.485A>G (p.Tyr162Cys) SNV Uncertain significance 469636 rs1556616834 GRCh37: X:135080322-135080322
GRCh38: X:135998163-135998163
32 SLC9A6 NM_006359.3(SLC9A6):c.1843A>G (p.Ser615Gly) SNV Uncertain significance 537363 rs558960349 GRCh37: X:135126716-135126716
GRCh38: X:136044557-136044557
33 SLC9A6 NM_006359.3(SLC9A6):c.8G>T (p.Arg3Leu) SNV Uncertain significance 572609 rs1016216648 GRCh37: X:135067669-135067669
GRCh38: X:135985510-135985510
34 SLC9A6 NM_006359.3(SLC9A6):c.619G>A (p.Val207Ile) SNV Uncertain significance 575064 rs1556616995 GRCh37: X:135081049-135081049
GRCh38: X:135998890-135998890
35 SLC9A6 NM_006359.3(SLC9A6):c.362A>G (p.His121Arg) SNV Uncertain significance 409978 rs1060502675 GRCh37: X:135076981-135076981
GRCh38: X:135994822-135994822
36 SLC9A6 NM_006359.3(SLC9A6):c.1488C>T (p.Gly496=) SNV Uncertain significance 469634 rs782370742 GRCh37: X:135106610-135106610
GRCh38: X:136024451-136024451
37 SLC9A6 NM_006359.3(SLC9A6):c.946G>A (p.Val316Met) SNV Uncertain significance 469638 rs1556618832 GRCh37: X:135095108-135095108
GRCh38: X:136012949-136012949
38 SLC9A6 NM_006359.3(SLC9A6):c.269T>C (p.Leu90Pro) SNV Uncertain significance 469635 rs1556614843 GRCh37: X:135067930-135067930
GRCh38: X:135985771-135985771
39 SLC9A6 NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) SNV Uncertain significance 159934 rs587784400 GRCh37: X:135076986-135076986
GRCh38: X:135994827-135994827
40 SLC9A6 NM_006359.3(SLC9A6):c.412A>G (p.Ser138Gly) SNV Uncertain significance 159935 rs587784401 GRCh37: X:135077031-135077031
GRCh38: X:135994872-135994872
41 SLC9A6 NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) SNV Uncertain significance 159936 rs587784402 GRCh37: X:135081019-135081019
GRCh38: X:135998860-135998860
42 SLC9A6 NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn) SNV Uncertain significance 988715 GRCh37: X:135080699-135080699
GRCh38: X:135998540-135998540
43 SLC9A6 NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr) SNV Uncertain significance 988730 GRCh37: X:135092678-135092678
GRCh38: X:136010519-136010519
44 SLC9A6 NM_001379110.1(SLC9A6):c.885+5C>T SNV Uncertain significance 1002023 GRCh37: X:135092747-135092747
GRCh38: X:136010588-136010588
45 SLC9A6 NM_006359.3(SLC9A6):c.418A>G (p.Thr140Ala) SNV Uncertain significance 450434 rs372003999 GRCh37: X:135077037-135077037
GRCh38: X:135994878-135994878
46 SLC9A6 NM_001379110.1(SLC9A6):c.982G>A (p.Gly328Ser) SNV Uncertain significance 1005501 GRCh37: X:135095204-135095204
GRCh38: X:136013045-136013045
47 SLC9A6 NM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys) SNV Uncertain significance 1006408 GRCh37: X:135122338-135122338
GRCh38: X:136040179-136040179
48 SLC9A6 NM_001379110.1(SLC9A6):c.461G>A (p.Arg154Gln) SNV Uncertain significance 1014912 GRCh37: X:135080654-135080654
GRCh38: X:135998495-135998495
49 SLC9A6 NM_001379110.1(SLC9A6):c.1768A>C (p.Asn590His) SNV Uncertain significance 1014938 GRCh37: X:135126611-135126611
GRCh38: X:136044452-136044452
50 SLC9A6 NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser) SNV Uncertain significance 1020226 GRCh37: X:135126861-135126861
GRCh38: X:136044702-136044702
51 SLC9A6 NM_006359.3(SLC9A6):c.1991C>T (p.Thr664Met) SNV Uncertain significance 281815 rs886044780 GRCh37: X:135126864-135126864
GRCh38: X:136044705-136044705
52 SLC9A6 NM_001379110.1(SLC9A6):c.1711C>T (p.Leu571Phe) SNV Uncertain significance 1025118 GRCh37: X:135122284-135122284
GRCh38: X:136040125-136040125
53 SLC9A6 NM_001379110.1(SLC9A6):c.-57+50G>C SNV Uncertain significance 1030062 GRCh37: X:135067686-135067686
GRCh38: X:135985527-135985527
54 SLC9A6 NM_001379110.1(SLC9A6):c.1080+17A>G SNV Uncertain significance 1032437 GRCh37: X:135095613-135095613
GRCh38: X:136013454-136013454
55 SLC9A6 NM_001379110.1(SLC9A6):c.1420G>T (p.Gly474Cys) SNV Uncertain significance 1035423 GRCh37: X:135106602-135106602
GRCh38: X:136024443-136024443
56 overlap with 2 genes NC_000023.10:g.(?_135080257)_(135292184_?)dup Duplication Uncertain significance 1036230 GRCh37: X:135080257-135292184
GRCh38:
57 SLC9A6 NM_001379110.1(SLC9A6):c.1876G>A (p.Ala626Thr) SNV Uncertain significance 1038955 GRCh37: X:135126719-135126719
GRCh38: X:136044560-136044560
58 SLC9A6 NM_006359.3(SLC9A6):c.512A>T (p.His171Leu) SNV Uncertain significance 207233 rs796053275 GRCh37: X:135080645-135080645
GRCh38: X:135998486-135998486
59 SLC9A6 NM_001379110.1(SLC9A6):c.-57+62C>T SNV Uncertain significance 1040525 GRCh37: X:135067698-135067698
GRCh38: X:135985539-135985539
60 SLC9A6 NM_006359.3(SLC9A6):c.1558C>A (p.Pro520Thr) SNV Uncertain significance 207253 rs782145804 GRCh37: X:135115579-135115579
GRCh38: X:136033420-136033420
61 SLC9A6 NM_001379110.1(SLC9A6):c.634C>G (p.Pro212Ala) SNV Uncertain significance 1052092 GRCh37: X:135081124-135081124
GRCh38: X:135998965-135998965
62 SLC9A6 NM_001379110.1(SLC9A6):c.1157A>G (p.Asn386Ser) SNV Uncertain significance 1052390 GRCh37: X:135098880-135098880
GRCh38: X:136016721-136016721
63 SLC9A6 NM_001379110.1(SLC9A6):c.212C>T (p.Pro71Leu) SNV Uncertain significance 1054385 GRCh37: X:135076987-135076987
GRCh38: X:135994828-135994828
64 SLC9A6 NM_001379110.1(SLC9A6):c.525G>A (p.Gly175=) SNV Uncertain significance 1060414 GRCh37: X:135081015-135081015
GRCh38: X:135998856-135998856
65 SLC9A6 NM_006359.3(SLC9A6):c.623C>T (p.Thr208Met) SNV Uncertain significance 207252 rs372747388 GRCh37: X:135081053-135081053
GRCh38: X:135998894-135998894
66 SLC9A6 NM_001379110.1(SLC9A6):c.239G>A (p.Ser80Asn) SNV Uncertain significance 1061252 GRCh37: X:135077014-135077014
GRCh38: X:135994855-135994855
67 SLC9A6 NM_001379110.1(SLC9A6):c.-56-4G>T SNV Uncertain significance 1062813 GRCh37: X:135067758-135067758
GRCh38: X:135985599-135985599
68 SLC9A6 NM_001379110.1(SLC9A6):c.1958G>T (p.Arg653Leu) SNV Uncertain significance 1062923 GRCh37: X:135126801-135126801
GRCh38: X:136044642-136044642
69 SLC9A6 NC_000023.11:g.(?_135985483)_(136024503_?)dup Duplication Uncertain significance 831697 GRCh37: X:135067642-135106662
GRCh38:
70 SLC9A6 NM_001042537.1(SLC9A6):c.1A>G (p.Met1Val) SNV Uncertain significance 853911 GRCh37: X:135067662-135067662
GRCh38: X:135985503-135985503
71 SLC9A6 NM_006359.3(SLC9A6):c.1904T>G (p.Phe635Cys) SNV Uncertain significance 834464 GRCh37: X:135126777-135126777
GRCh38: X:136044618-136044618
72 SLC9A6 NM_006359.3(SLC9A6):c.547G>A (p.Ala183Thr) SNV Uncertain significance 207239 rs796053281 GRCh37: X:135080680-135080680
GRCh38: X:135998521-135998521
73 SLC9A6 NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val) SNV Uncertain significance 950702 GRCh37: X:135095193-135095193
GRCh38: X:136013034-136013034
74 SLC9A6 NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser) SNV Uncertain significance 951462 GRCh37: X:135115573-135115573
GRCh38: X:136033414-136033414
75 SLC9A6 NM_006359.3(SLC9A6):c.508A>G (p.Arg170Gly) SNV Uncertain significance 207238 rs796053280 GRCh37: X:135080641-135080641
GRCh38: X:135998482-135998482
76 SLC9A6 NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu) SNV Uncertain significance 959999 GRCh37: X:135122300-135122300
GRCh38: X:136040141-136040141
77 SLC9A6 NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile) SNV Uncertain significance 963236 GRCh37: X:135126675-135126675
GRCh38: X:136044516-136044516
78 SLC9A6 NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu) SNV Uncertain significance 964337 GRCh37: X:135067830-135067830
GRCh38: X:135985671-135985671
79 SLC9A6 NM_001379110.1(SLC9A6):c.992-3T>C SNV Uncertain significance 969959 GRCh37: X:135095505-135095505
GRCh38: X:136013346-136013346
80 SLC9A6 NM_006359.3(SLC9A6):c.141C>T (p.Gly47=) SNV Likely benign 139211 rs139299794 GRCh37: X:135067802-135067802
GRCh38: X:135985643-135985643
81 SLC9A6 NM_006359.3(SLC9A6):c.171C>G (p.Ile57Met) SNV Likely benign 379120 rs782296172 GRCh37: X:135067832-135067832
GRCh38: X:135985673-135985673
82 SLC9A6 NM_006359.3(SLC9A6):c.148G>T (p.Ala50Ser) SNV Likely benign 207247 rs367724979 GRCh37: X:135067809-135067809
GRCh38: X:135985650-135985650
83 SLC9A6 NM_006359.3(SLC9A6):c.1803A>T (p.Thr601=) SNV Likely benign 589925 rs782629258 GRCh37: X:135126676-135126676
GRCh38: X:136044517-136044517
84 SLC9A6 NM_006359.3(SLC9A6):c.369G>A (p.Pro123=) SNV Likely benign 744117 rs782600941 GRCh37: X:135076988-135076988
GRCh38: X:135994829-135994829
85 SLC9A6 NM_006359.3(SLC9A6):c.609G>A (p.Thr203=) SNV Likely benign 752199 rs782386487 GRCh37: X:135081039-135081039
GRCh38: X:135998880-135998880
86 SLC9A6 NM_006359.3(SLC9A6):c.576C>T (p.Phe192=) SNV Likely benign 469637 rs1423014570 GRCh37: X:135080709-135080709
GRCh38: X:135998550-135998550
87 SLC9A6 NM_006359.3(SLC9A6):c.1224C>T (p.Val408=) SNV Likely benign 469633 rs1556619315 GRCh37: X:135098887-135098887
GRCh38: X:136016728-136016728
88 SLC9A6 NM_006359.3(SLC9A6):c.1141-8C>T SNV Likely benign 415899 rs1060504684 GRCh37: X:135098796-135098796
GRCh38: X:136016637-136016637
89 SLC9A6 NM_006359.3(SLC9A6):c.804-6C>T SNV Benign 139201 rs17001258 GRCh37: X:135092595-135092595
GRCh38: X:136010436-136010436
90 SLC9A6 NM_006359.3(SLC9A6):c.1520+6T>C SNV Benign 516674 rs781963949 GRCh37: X:135106648-135106648
GRCh38: X:136024489-136024489
91 SLC9A6 NM_006359.3(SLC9A6):c.*8A>T SNV Benign 139210 rs200171451 GRCh37: X:135126891-135126891
GRCh38: X:136044732-136044732
92 SLC9A6 NM_006359.3(SLC9A6):c.1632-4G>A SNV Benign 139208 rs188072063 GRCh37: X:135122231-135122231
GRCh38: X:136040072-136040072
93 SLC9A6 NM_006359.3(SLC9A6):c.534T>C (p.Ser178=) SNV Benign 139200 rs144316388 GRCh37: X:135080667-135080667
GRCh38: X:135998508-135998508
94 SLC9A6 NM_006359.3(SLC9A6):c.1552-3C>T SNV Benign 139206 rs563279759 GRCh37: X:135115570-135115570
GRCh38: X:136033411-136033411
95 SLC9A6 NM_006359.3(SLC9A6):c.1659C>T (p.Ser553=) SNV Benign 139209 rs2307131 GRCh37: X:135122262-135122262
GRCh38: X:136040103-136040103
96 SLC9A6 NM_006359.3(SLC9A6):c.1520+10A>G SNV Benign 139204 rs185533973 GRCh37: X:135106652-135106652
GRCh38: X:136024493-136024493
97 SLC9A6 NM_006359.3(SLC9A6):c.1140+80dup Duplication Benign 804088 rs35492327 GRCh37: X:135095664-135095665
GRCh38: X:136013505-136013506
98 SLC9A6 NM_006359.3(SLC9A6):c.1520+4A>G SNV Benign 95376 rs180727016 GRCh37: X:135106646-135106646
GRCh38: X:136024487-136024487
99 SLC9A6 NM_006359.3(SLC9A6):c.1607G>A (p.Arg536Gln) SNV Benign 139207 rs146263125 GRCh37: X:135115628-135115628
GRCh38: X:136033469-136033469
100 SLC9A6 NM_006359.3(SLC9A6):c.1143G>A (p.Leu381=) SNV Benign 469632 rs151178361 GRCh37: X:135098806-135098806
GRCh38: X:136016647-136016647
101 SLC9A6 NM_006359.3(SLC9A6):c.25G>T (p.Ala9Ser) SNV Benign 159933 rs201523857 GRCh37: X:135067686-135067686
GRCh38: X:135985527-135985527
102 SLC9A6 NM_006359.3(SLC9A6):c.1089A>C (p.Ala363=) SNV Benign 139203 rs142049079 GRCh37: X:135095545-135095545
GRCh38: X:136013386-136013386

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Christianson Type:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 SLC9A6 p.Gly186Arg VAR_083536

Expression for Mental Retardation, X-Linked, Syndromic, Christianson Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Christianson Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Christianson Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Christianson Type

Sources for Mental Retardation, X-Linked, Syndromic, Christianson Type

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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