MRXHF1
MCID: MNT309
MIFTS: 37

Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 (MRXHF1)

Categories: Genetic diseases

Aliases & Classifications for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

MalaCards integrated aliases for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

Name: Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 57 72
Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 13 6 39
Xlmr-Hypotonic Facies Syndrome 57 72 6
Holmes-Gang Syndrome 57 73 72
Smith-Fineman-Myers Syndrome 1 57 72
Carpenter-Waziri Syndrome 57 72
Juberg-Marsidi Syndrome 72 70
Chudley-Lowry Syndrome 57 72
Mrxhf1 57 72
Sfm1 57 72
Sfms 57 72
Mental Retardation X-Linked with Growth Retardation Deafness and Microgenitalism 72
Mental Retardation Smith Fineman Myers Type 70
Smith-Fineman-Myers Syndrome 1; Sfm1 57
Jms 72
Cws 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable phenotype
alpha-thalassemia/mental retardation syndrome is an allelic disorder

Inheritance:
x-linked recessive


HPO:

31
mental retardation-hypotonic facies syndrome, x-linked, 1:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

OMIM® : 57 The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; 301040) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. (309580) (Updated 05-Apr-2021)

MalaCards based summary : Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1, also known as mental retardation-hypotonic facies syndrome, x-linked, is related to smith-fineman-myers syndrome and mental retardation, x-linked, syndromic, turner type, and has symptoms including constipation and vomiting. An important gene associated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 is ATRX (ATRX Chromatin Remodeler). Affiliated tissues include tongue, bone and testes, and related phenotypes are intellectual disability, severe and intellectual disability, moderate

UniProtKB/Swiss-Prot : 72 Mental retardation-hypotonic facies syndrome, X-linked, 1: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 is a syndromic mental retardation. Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.

Wikipedia : 73 Smith-Fineman-Myers syndrome (SFMS1) is a congenital disorder that causes birth defects. This syndrome... more...

Related Diseases for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 smith-fineman-myers syndrome 11.5
2 mental retardation, x-linked, syndromic, turner type 11.3
3 johnson neuroectodermal syndrome 11.1
4 soft tissue sarcoma 10.6
5 rhabdomyosarcoma 10.5
6 sarcoma 10.4
7 spindle cell sarcoma 10.4
8 hydrocephalus 10.3
9 congenital hydrocephalus 10.2
10 cryptorchidism, unilateral or bilateral 10.2
11 branchiootic syndrome 1 10.2
12 alpha-thalassemia 10.2
13 penis agenesis 10.2
14 thalassemia 10.2
15 bladder cancer 10.2
16 sarcoma, synovial 10.2
17 embryonal rhabdomyosarcoma 10.2
18 craniosynostosis with fibular aplasia 10.2
19 alpha-thalassemia/mental retardation syndrome, x-linked 10.2
20 macrostomia, isolated 10.2
21 alpha thalassemia-x-linked intellectual disability syndrome 10.2
22 hypogonadism 10.2
23 fibrosarcoma 10.1
24 47,xyy 10.1
25 fibromatosis 10.0
26 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
27 stroke, ischemic 10.0
28 body mass index quantitative trait locus 1 10.0
29 rhabdomyosarcoma 2 10.0
30 ewing sarcoma 10.0
31 stuttering 10.0
32 prostate rhabdomyosarcoma 10.0
33 severe combined immunodeficiency 10.0
34 embryonal sarcoma 10.0
35 rare tumor 10.0
36 suppressor of tumorigenicity 3 9.9
37 hemochromatosis, type 1 9.9
38 sarcoidosis 1 9.9
39 myocardial infarction 9.9
40 autonomic neuropathy 9.9
41 lipid metabolism disorder 9.9
42 brain edema 9.9
43 sleep disorder 9.9
44 dysphagia 9.9
45 neurofibromatosis, type i 9.8
46 chondrosarcoma 9.8
47 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
48 pleuropulmonary blastoma 9.8
49 carney triad 9.8
50 panbronchiolitis, diffuse 9.8

Graphical network of the top 20 diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:



Diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Symptoms & Phenotypes for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Human phenotypes related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

31 (show top 50) (show all 92)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 31 hallmark (90%) HP:0010864
2 intellectual disability, moderate 31 hallmark (90%) HP:0002342
3 coarse facial features 31 frequent (33%) HP:0000280
4 global developmental delay 31 frequent (33%) HP:0001263
5 depressed nasal bridge 31 frequent (33%) HP:0005280
6 hypertelorism 31 frequent (33%) HP:0000316
7 widely spaced teeth 31 frequent (33%) HP:0000687
8 wide nasal bridge 31 frequent (33%) HP:0000431
9 abnormal facial shape 31 frequent (33%) HP:0001999
10 short nose 31 frequent (33%) HP:0003196
11 microcephaly 31 frequent (33%) HP:0000252
12 anteverted nares 31 frequent (33%) HP:0000463
13 thick eyebrow 31 frequent (33%) HP:0000574
14 short stature 31 frequent (33%) HP:0004322
15 gastroesophageal reflux 31 frequent (33%) HP:0002020
16 thick lower lip vermilion 31 frequent (33%) HP:0000179
17 absent speech 31 frequent (33%) HP:0001344
18 epicanthus 31 frequent (33%) HP:0000286
19 brachydactyly 31 frequent (33%) HP:0001156
20 large forehead 31 frequent (33%) HP:0002003
21 wide anterior fontanel 31 frequent (33%) HP:0000260
22 feeding difficulties 31 frequent (33%) HP:0011968
23 bilateral talipes equinovarus 31 frequent (33%) HP:0001776
24 broad nasal tip 31 frequent (33%) HP:0000455
25 brisk reflexes 31 frequent (33%) HP:0001348
26 drooling 31 frequent (33%) HP:0002307
27 infantile muscular hypotonia 31 frequent (33%) HP:0008947
28 facial hypotonia 31 frequent (33%) HP:0000297
29 equinovarus deformity 31 frequent (33%) HP:0008110
30 enlarged epiphyses of the distal phalanges of the hand 31 frequent (33%) HP:0010249
31 short neck 31 occasional (7.5%) HP:0000470
32 mandibular prognathia 31 occasional (7.5%) HP:0000303
33 abnormality of the dentition 31 occasional (7.5%) HP:0000164
34 stereotypy 31 occasional (7.5%) HP:0000733
35 everted lower lip vermilion 31 occasional (7.5%) HP:0000232
36 low-set ears 31 occasional (7.5%) HP:0000369
37 obesity 31 occasional (7.5%) HP:0001513
38 oligohydramnios 31 occasional (7.5%) HP:0001562
39 bilateral renal hypoplasia 31 occasional (7.5%) HP:0012584
40 chronic constipation 31 occasional (7.5%) HP:0012450
41 short upper lip 31 occasional (7.5%) HP:0000188
42 thyroglossal cyst 31 occasional (7.5%) HP:0010518
43 seizure 31 very rare (1%) HP:0001250
44 hyperreflexia 31 HP:0001347
45 ptosis 31 HP:0000508
46 constipation 31 HP:0002019
47 high palate 31 HP:0000218
48 macroglossia 31 HP:0000158
49 delayed skeletal maturation 31 HP:0002750
50 pes planus 31 HP:0001763

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
seizures (in 35%)
mental retardation, severe, profound
hypotonia, early
hypertonia of lower limbs, later

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
vomiting
gut dysmotility

Head And Neck Nose:
depressed nasal bridge
triangular nasal tip
anteverted nostrils
flat, broad nasal bridge

Head And Neck Head:
microcephaly
dolichocephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Mouth:
open mouth
protruding tongue
drooling
high-arched palate
macrostomia
more
Genitourinary External Genitalia Male:
micropenis
hypospadias
hypogonadism
hypoplastic scrotum
small testes

Growth Other:
growth retardation

Skeletal Limbs:
genua valga

Growth Weight:
obesity, mild (rare)

Genitourinary Kidneys:
renal hypoplasia (less common)

Skeletal Spine:
kyphoscoliosis (approximately 30%)

Head And Neck Eyes:
ptosis
hypertelorism
optic atrophy
epicanthal folds
upslanting palpebral fissures
more
Head And Neck Face:
coarse facial features
micrognathia
midface hypoplasia
bitemporal narrowing
small philtrum

Skeletal Feet:
pes planus
talipes equinovarus
talipes calcaneovalgus

Growth Height:
short stature

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
everted ears
hyperfolded ears
more
Skeletal Hands:
brachydactyly
clinodactyly of isolated digits
slender, tapering fingers

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
paroxysmal bursts of laughter
repetitive, self-stimulatory behavior using upper limbs
fingers in mouth
self-absorbed

Skeletal:
delayed bone age

Head And Neck Teeth:
widely-spaced upper incisors

Head And Neck Neck:
short neck (less common)

Genitourinary Bladder:
vesicoureteral reflux (less common)

Hematology:
absence of hb h inclusions in red blood cells

Clinical features from OMIM®:

309580 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:


constipation; vomiting

Drugs & Therapeutics for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Improving Practice in Community-based Settings: A Randomized Trial of Supervision Strategies Unknown status NCT01800266
2 Childhood Obesity Treatment: A Maintenance Approach Completed NCT00759746
3 A Trial for a Procedure for Duodenal-Ileal Diversion With a Sleeve Gastrectomy for Patients With Obesity and Type 2 Diabetes Mellitus Recruiting NCT04627103

Search NIH Clinical Center for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Genetic Tests for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Anatomical Context for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

MalaCards organs/tissues related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

40
Tongue, Bone, Testes

Publications for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Articles related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

(show all 26)
# Title Authors PMID Year
1
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 61 6 57
11050622 2000
2
Asplenia in ATR-X syndrome: a second report. 57 6
16222662 2005
3
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. 6 57
15508018 2005
4
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. 57 6
10751095 2000
5
X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq. 57 6
10398234 1999
6
Carpenter-Waziri syndrome results from a mutation in XNP. 57 6
10398237 1999
7
XNP mutation in a large family with Juberg-Marsidi syndrome. 57 6
8630485 1996
8
A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. 57 6
9043863 1996
9
Smith-Fineman-Myers syndrome in two brothers. 6 57
1684092 1991
10
Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. 57 6
3239563 1988
11
Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot. 6 57
6711605 1984
12
X-linked mental retardation, growth retardation, deafness and microgenitalism. A second familial report. 6 57
6682021 1983
13
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
14
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation. 6
15565397 2005
15
Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation. 6
15591283 2004
16
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. 6
10632111 2000
17
Molecular-clinical spectrum of the ATR-X syndrome. 57
11449489 2000
18
Smith-Fineman-Myers syndrome in apparently monozygotic twins. 57
9788563 1998
19
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). 57
8503439 1993
20
Alpha-thalassemia/mental retardation syndrome often confused with other disorders. 57
1456302 1992
21
X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. 57
1583667 1992
22
Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance. 57
1770528 1991
23
Smith-Fineman-Myers syndrome: report of a third case. 57
4050861 1985
24
Short stature, psychomotor retardation, and unusual facial appearance in two brothers. 57
7211953 1980
25
X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome. 57
758423 1979
26
Counselling in diseases produced either by autosomal or X-linked recessive mutations. 57
4976957 1968

Variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

ClinVar genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATRX NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) SNV Pathogenic 11731 rs122445101 GRCh37: X:76814252-76814252
GRCh38: X:77558781-77558781
2 ATRX NM_000489.5(ATRX):c.5131C>T (p.Pro1711Ser) SNV Pathogenic 11732 rs122445102 GRCh37: X:76888698-76888698
GRCh38: X:77633210-77633210
3 ATRX NM_000489.5(ATRX):c.7201-2A>G SNV Pathogenic 11737 rs1569513021 GRCh37: X:76764109-76764109
GRCh38: X:77508631-77508631
4 ATRX NM_000489.5(ATRX):c.1226T>C (p.Leu409Ser) SNV Pathogenic 11743 rs122445109 GRCh37: X:76939522-76939522
GRCh38: X:77684030-77684030
5 ATRX NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr) SNV Pathogenic 11744 rs122445110 GRCh37: X:76845372-76845372
GRCh38: X:77589902-77589902
6 ATRX NM_000489.5(ATRX):c.659G>A (p.Cys220Tyr) SNV Pathogenic 11745 rs122445111 GRCh37: X:76940434-76940434
GRCh38: X:77684942-77684942
7 ATRX NM_000489.5(ATRX):c.6811A>G (p.Arg2271Gly) SNV Pathogenic 11746 rs122445112 GRCh37: X:76778768-76778768
GRCh38: X:77523290-77523290
8 ATRX NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) SNV Pathogenic 11731 rs122445101 GRCh37: X:76814252-76814252
GRCh38: X:77558781-77558781
9 ATRX NM_138270.4(ATRX):c.370+2746del Deletion Pathogenic 689744 rs1603240572 GRCh37: X:76949320-76949320
GRCh38: X:77693831-77693831
10 ATRX NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) SNV Pathogenic 11742 rs122445108 GRCh37: X:76972632-76972632
GRCh38: X:77717155-77717155
11 ATRX NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) SNV Pathogenic 11742 rs122445108 GRCh37: X:76972632-76972632
GRCh38: X:77717155-77717155
12 ATRX NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) SNV Pathogenic 11735 rs122445105 GRCh37: X:76940012-76940012
GRCh38: X:77684520-77684520
13 ATRX NM_000489.5(ATRX):c.536A>G (p.Asn179Ser) SNV Pathogenic 93141 rs398123425 GRCh37: X:76944369-76944369
GRCh38: X:77688876-77688876
14 ATRX NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) SNV Likely pathogenic 11735 rs122445105 GRCh37: X:76940012-76940012
GRCh38: X:77684520-77684520
15 ATRX NM_000489.6(ATRX):c.5449-7A>G SNV Likely pathogenic 1028792 GRCh37: X:76872205-76872205
GRCh38: X:77616737-77616737
16 ATRX NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp) SNV Likely pathogenic 975655 GRCh37: X:76888749-76888749
GRCh38: X:77633261-77633261
17 ATRX NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) SNV Likely pathogenic 635054 rs1057517948 GRCh37: X:76829787-76829787
GRCh38: X:77574322-77574322
18 ATRX NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr) SNV Likely pathogenic 976782 GRCh37: X:76939909-76939909
GRCh38: X:77684417-77684417
19 ATRX NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) SNV Likely pathogenic 11734 rs122445103 GRCh37: X:76944337-76944337
GRCh38: X:77688844-77688844
20 ATRX NM_000489.5(ATRX):c.1423C>T (p.His475Tyr) SNV Uncertain significance 224111 rs146863015 GRCh37: X:76939325-76939325
GRCh38: X:77683833-77683833
21 ATRX NM_000489.5(ATRX):c.2150C>T (p.Pro717Leu) SNV Uncertain significance 403668 rs372617572 GRCh37: X:76938598-76938598
GRCh38: X:77683106-77683106
22 ATRX NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) SNV Uncertain significance 424128 rs1064796812 GRCh37: X:76918921-76918921
GRCh38: X:77663432-77663432
23 ATRX NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile) SNV Uncertain significance 592113 rs1569538665 GRCh37: X:76937213-76937213
GRCh38: X:77681721-77681721
24 ATRX NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) SNV Uncertain significance 520624 rs782274478 GRCh37: X:76777829-76777829
GRCh38: X:77522351-77522351
25 ATRX NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) SNV Uncertain significance 571718 rs1569536694 GRCh37: X:76918987-76918987
GRCh38: X:77663498-77663498
26 ATRX NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) SNV Uncertain significance 465052 rs143621153 GRCh37: X:76937537-76937537
GRCh38: X:77682045-77682045
27 ATRX NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) SNV Uncertain significance 521610 rs199543136 GRCh37: X:76763876-76763876
GRCh38: X:77508398-77508398
28 ATRX NM_000489.5(ATRX):c.4654G>T (p.Val1552Phe) SNV Uncertain significance 689743 rs1602995714 GRCh37: X:76891451-76891451
GRCh38: X:77635960-77635960
29 ATRX NM_000489.6(ATRX):c.6504+5_6504+14del Deletion Uncertain significance 981648 GRCh37: X:76814126-76814135
GRCh38: X:77558655-77558664
30 ATRX NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp) SNV Uncertain significance 988759 GRCh37: X:76938832-76938832
GRCh38: X:77683340-77683340
31 ATRX NM_000489.6(ATRX):c.796T>C (p.Tyr266His) SNV Uncertain significance 975982 GRCh37: X:76939952-76939952
GRCh38: X:77684460-77684460
32 ATRX NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val) SNV Uncertain significance 976314 GRCh37: X:76845364-76845364
GRCh38: X:77589894-77589894
33 ATRX NM_000489.5(ATRX):c.5377A>C (p.Thr1793Pro) SNV Uncertain significance 635063 rs1569531570 GRCh37: X:76874345-76874345
GRCh38: X:77618877-77618877
34 ATRX NM_000489.6(ATRX):c.715T>C (p.Phe239Leu) SNV Uncertain significance 1028793 GRCh37: X:76940033-76940033
GRCh38: X:77684541-77684541
35 ATRX NM_000489.5(ATRX):c.1219C>G (p.Leu407Val) SNV Uncertain significance 434469 rs1557142145 GRCh37: X:76939529-76939529
GRCh38: X:77684037-77684037
36 ATRX NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) SNV Uncertain significance 1028789 GRCh37: X:76938419-76938419
GRCh38: X:77682927-77682927
37 EPOR NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) SNV Benign 268130 rs142094773 GRCh37: 19:11488725-11488725
GRCh38: 19:11378049-11378049

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

72
# Symbol AA change Variation ID SNP ID
1 ATRX p.Arg2131Gln VAR_001240 rs122445101
2 ATRX p.Ile2050Thr VAR_012127 rs122445110
3 ATRX p.Cys220Tyr VAR_032625 rs122445111
4 ATRX p.Leu409Ser VAR_032626 rs122445109
5 ATRX p.Arg2271Gly VAR_032627 rs122445112

Expression for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Search GEO for disease gene expression data for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1.

Pathways for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

GO Terms for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Sources for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

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
Content
Loading form....