ZTTKS
MCID: ZTT001
MIFTS: 38

Zttk Syndrome (ZTTKS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Zttk Syndrome

MalaCards integrated aliases for Zttk Syndrome:

Name: Zttk Syndrome 57 19 58 73 28 5 75
Zhu-Tokita-Takenouchi-Kim Syndrome 57 58 73
Zttks 57 73
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome 58
Zttk Multiple Congenital Anomalies-Mental Retardation Syndrome 57

Characteristics:


Inheritance:

Zttk Syndrome: Autosomal dominant 57
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome: Autosomal dominant 58

Prevelance:

Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable features
mutations occur de novo


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Zttk Syndrome

Orphanet: 58 A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations.

MalaCards based summary: Zttk Syndrome, also known as zhu-tokita-takenouchi-kim syndrome, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and duodenal atresia. An important gene associated with Zttk Syndrome is SON (SON DNA And RNA Binding Protein). Affiliated tissues include brain, cortex and heart, and related phenotypes are global developmental delay and intellectual disability, severe

OMIM®: 57 ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016). (617140) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 An autosomal dominant syndrome characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculo-skeletal abnormalities, and congenital malformations.

Wikipedia: 75 ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare disease caused in humans by a genetic... more...

Related Diseases for Zttk Syndrome

Diseases related to Zttk Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
2 duodenal atresia 10.5
3 hydrocephalus, congenital, 1 10.5
4 hypoplastic left heart syndrome 1 10.5
5 periventricular nodular heterotopia 10.5
6 polymicrogyria 10.5
7 gastroparesis 10.5
8 hypoplastic left heart syndrome 10.5
9 growth hormone deficiency 10.5
10 febrile seizures 10.5
11 autism spectrum disorder 10.0
12 scoliosis 10.0
13 hypotonia 10.0

Graphical network of the top 20 diseases related to Zttk Syndrome:



Diseases related to Zttk Syndrome

Symptoms & Phenotypes for Zttk Syndrome

Human phenotypes related to Zttk Syndrome:

58 30 (show top 50) (show all 135)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001263
2 intellectual disability, severe 58 30 Very rare (1%) Frequent (79-30%)
HP:0010864
3 intrauterine growth retardation 58 30 Very rare (1%) Frequent (79-30%)
HP:0001511
4 failure to thrive in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001531
5 autistic behavior 58 30 Very rare (1%) Frequent (79-30%)
HP:0000729
6 hypoplasia of the corpus callosum 58 30 Very rare (1%) Frequent (79-30%)
HP:0002079
7 proportionate short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0003508
8 hypermetropia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000540
9 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
10 spasticity 58 30 Very rare (1%) Occasional (29-5%)
HP:0001257
11 frontal bossing 58 30 Very rare (1%) Occasional (29-5%)
HP:0002007
12 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
13 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
14 developmental regression 58 30 Very rare (1%) Occasional (29-5%)
HP:0002376
15 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
16 depressed nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005280
17 wide nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000431
18 short nose 58 30 Very rare (1%) Occasional (29-5%)
HP:0003196
19 smooth philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000319
20 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
21 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
22 prominent forehead 58 30 Very rare (1%) Occasional (29-5%)
HP:0011220
23 full cheeks 58 30 Very rare (1%) Occasional (29-5%)
HP:0000293
24 progressive visual loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000529
25 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
26 horseshoe kidney 58 30 Very rare (1%) Occasional (29-5%)
HP:0000085
27 epicanthus 58 30 Very rare (1%) Occasional (29-5%)
HP:0000286
28 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
29 atrial septal defect 58 30 Very rare (1%) Occasional (29-5%)
HP:0001631
30 slender long bone 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003100
31 kyphoscoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002751
32 emphysema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002097
33 transient ischemic attack 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002326
34 arachnodactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001166
35 downslanted palpebral fissures 58 30 Very rare (1%) Occasional (29-5%)
HP:0000494
36 downturned corners of mouth 58 30 Very rare (1%) Occasional (29-5%)
HP:0002714
37 facial asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000324
38 hemivertebrae 58 30 Very rare (1%) Occasional (29-5%)
HP:0002937
39 protruding ear 58 30 Very rare (1%) Occasional (29-5%)
HP:0000411
40 deeply set eye 58 30 Very rare (1%) Occasional (29-5%)
HP:0000490
41 short philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000322
42 rib fusion 58 30 Very rare (1%) Occasional (29-5%)
HP:0000902
43 chronic diarrhea 58 30 Very rare (1%) Occasional (29-5%)
HP:0002028
44 thin vermilion border 58 30 Very rare (1%) Occasional (29-5%)
HP:0000233
45 blue sclerae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000592
46 polymicrogyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002126
47 hypoplasia of the maxilla 58 30 Very rare (1%) Occasional (29-5%)
HP:0000327
48 respiratory failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002878
49 bifid uvula 58 30 Very rare (1%) Occasional (29-5%)
HP:0000193
50 fetal distress 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025116

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
intellectual disability
hypotonia
developmental regression
cerebellar hypoplasia
thin corpus callosum
more
Head And Neck Face:
frontal bossing
facial asymmetry
short philtrum
midface retraction

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
optic atrophy
strabismus
hypermetropia
downslanting palpebral fissures
deep-set eyes
more
Head And Neck Mouth:
cleft palate
thin upper lip
high-arched palate
small mouth

Genitourinary Kidneys:
horseshoe kidney
single kidney
dysplastic kidney

Skeletal Skull:
craniosynostosis

Cardiovascular Heart:
congenital heart defects (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
rib abnormalities

Skeletal Feet:
small feet

Immunology:
decreased immunoglobulin levels (in some patients)

Growth Other:
failure to thrive
poor overall growth

Skeletal Spine:
scoliosis
kyphosis
hemivertebrae

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Growth Height:
short stature

Head And Neck Ears:
low-set ears

Skeletal:
joint hypermobility
joint contractures

Abdomen Gastrointestinal:
feeding difficulties
gastrointestinal malformations (in some patients)

Head And Neck Teeth:
dental abnormalities

Skeletal Hands:
small hands

Genitourinary:
urogenital malformations (in some patients)

Clinical features from OMIM®:

617140 (Updated 08-Dec-2022)

Drugs & Therapeutics for Zttk Syndrome

Search Clinical Trials, NIH Clinical Center for Zttk Syndrome

Genetic Tests for Zttk Syndrome

Genetic tests related to Zttk Syndrome:

# Genetic test Affiliating Genes
1 Zttk Syndrome 28 SON

Anatomical Context for Zttk Syndrome

Organs/tissues related to Zttk Syndrome:

MalaCards : Brain, Cortex, Heart, Eye, Kidney, Lung, Skin
ODiseA: Kidney

Publications for Zttk Syndrome

Articles related to Zttk Syndrome:

(show all 19)
# Title Authors PMID Year
1
Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. 57 5
27256762 2016
2
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 57 5
27545676 2016
3
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 57 5
27545680 2016
4
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 57 5
25590979 2015
5
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. 62 57
34521999 2022
6
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome. 62
36229163 2022
7
Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein). 62
36175752 2022
8
Anesthesia of the Patient with Zhu-Tokita-Takenouchi-Kim (ZTTK) Syndrome: A Case Report. 62
35740806 2022
9
A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female. 62
35080253 2022
10
[Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene]. 62
35315044 2022
11
Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. 62
34840333 2022
12
Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings. 62
36387043 2022
13
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. 62
34331327 2021
14
A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome. 62
32926520 2020
15
Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. 62
32705777 2020
16
A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome. 62
32291808 2020
17
Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. 62
32045494 2020
18
Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities. 62
32448361 2020
19
Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T. 62
31557424 2019

Variations for Zttk Syndrome

ClinVar genetic disease variations for Zttk Syndrome:

5 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SON NM_138927.4(SON):c.3556C>T (p.Gln1186Ter) SNV Pathogenic
548026 rs1275312464 GRCh37: 21:34925093-34925093
GRCh38: 21:33552787-33552787
2 SON NM_138927.4(SON):c.3073dup (p.Met1025fs) DUP Pathogenic
252927 rs886039778 GRCh37: 21:34924609-34924610
GRCh38: 21:33552303-33552304
3 SON NM_138927.4(SON):c.6233del (p.Pro2078fs) DEL Pathogenic
252930 rs886039779 GRCh37: 21:34929533-34929533
GRCh38: 21:33557227-33557227
4 SON NM_138927.4(SON):c.286C>T (p.Gln96Ter) SNV Pathogenic
252926 rs886039777 GRCh37: 21:34921823-34921823
GRCh38: 21:33549517-33549517
5 SON NM_138927.4(SON):c.2919dup (p.Pro974fs) DUP Pathogenic
803629 rs1601263223 GRCh37: 21:34924455-34924456
GRCh38: 21:33552149-33552150
6 SON NM_138927.4(SON):c.6920G>A (p.Gly2307Glu) SNV Pathogenic
827763 rs1601299278 GRCh37: 21:34945648-34945648
GRCh38: 21:33573342-33573342
7 SON NM_138927.4(SON):c.6022C>T (p.Arg2008Ter) SNV Pathogenic
453018 rs1555899560 GRCh37: 21:34927559-34927559
GRCh38: 21:33555253-33555253
8 SON NM_138927.4(SON):c.6321+1G>A SNV Pathogenic
973267 rs2085987512 GRCh37: 21:34929623-34929623
GRCh38: 21:33557317-33557317
9 SON NM_138927.4(SON):c.3617_3618del (p.Glu1206fs) MICROSAT Pathogenic
1285461 GRCh37: 21:34925152-34925153
GRCh38: 21:33552846-33552847
10 SON NM_138927.4(SON):c.1024C>T (p.Gln342Ter) SNV Pathogenic
1319177 GRCh37: 21:34922561-34922561
GRCh38: 21:33550255-33550255
11 SON NM_138927.4(SON):c.5533delinsACG (p.Ser1845fs) INDEL Pathogenic
988008 rs2085921116 GRCh37: 21:34927070-34927070
GRCh38: 21:33554764-33554764
12 SON NM_138927.4(SON):c.2965del (p.Arg989fs) DEL Pathogenic
1323632 GRCh37: 21:34924502-34924502
GRCh38: 21:33552196-33552196
13 SON NM_138927.4(SON):c.78-1G>A SNV Pathogenic
1323633 GRCh37: 21:34918518-34918518
GRCh38: 21:33546212-33546212
14 SON NM_138927.4(SON):c.5717_5720del (p.Arg1906fs) DEL Pathogenic
503761 rs1382415023 GRCh37: 21:34927251-34927254
GRCh38: 21:33554945-33554948
15 SON NM_138927.4(SON):c.4198_4201del (p.Pro1400fs) DEL Pathogenic
1343134 GRCh37: 21:34925733-34925736
GRCh38: 21:33553427-33553430
16 SON NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del) DEL Pathogenic
617866 rs769691894 GRCh37: 21:34925681-34925704
GRCh38: 21:33553375-33553398
17 SON NM_138927.4(SON):c.384del (p.Lys128fs) DEL Pathogenic
631519 rs778418096 GRCh37: 21:34921914-34921914
GRCh38: 21:33549608-33549608
18 SON NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) SNV Pathogenic
423520 rs1064796472 GRCh37: 21:34924871-34924871
GRCh38: 21:33552565-33552565
19 overlap with 51 genes DEL Pathogenic
1684637 GRCh37:
GRCh38: 21:32213458-34373118
20 SON NM_138927.4(SON):c.3156del (p.Met1053fs) DEL Pathogenic
1708239 GRCh37: 21:34924693-34924693
GRCh38: 21:33552387-33552387
21 SON NM_138927.4(SON):c.4480C>T (p.Gln1494Ter) SNV Pathogenic
1709146 GRCh37: 21:34926017-34926017
GRCh38: 21:33553711-33553711
22 SON NM_138927.4(SON):c.3968_3975delinsGTTGGT (p.Ser1323fs) INDEL Pathogenic
1699122 GRCh37: 21:34925505-34925512
GRCh38: 21:33553199-33553206
23 SON NM_138927.4(SON):c.2357_2358dup (p.Ala787Ter) DUP Pathogenic
1699464 GRCh37: 21:34923893-34923894
GRCh38: 21:33551587-33551588
24 SON NM_138927.4(SON):c.5753_5756del (p.Val1918fs) DEL Pathogenic
252929 rs886039773 GRCh37: 21:34927288-34927291
GRCh38: 21:33554982-33554985
25 SON NM_138927.4(SON):c.117del (p.Ile41fs) DEL Pathogenic
1723129 GRCh37: 21:34918558-34918558
GRCh38: 21:33546252-33546252
26 SON NM_138927.4(SON):c.6002_6003insCC (p.Arg2002fs) INSERT Pathogenic/Likely Pathogenic
265775 rs886039775 GRCh37: 21:34927538-34927539
GRCh38: 21:33555232-33555233
27 SON NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) MICROSAT Pathogenic/Likely Pathogenic
265774 rs886039774 GRCh37: 21:34927083-34927084
GRCh38: 21:33554777-33554778
28 SON NM_138927.4(SON):c.4640del (p.His1547fs) DEL Pathogenic/Likely Pathogenic
265776 rs886039776 GRCh37: 21:34926177-34926177
GRCh38: 21:33553871-33553871
29 SON NM_138927.4(SON):c.1881_1882del (p.Val629fs) DEL Likely Pathogenic
617860 rs1569053308 GRCh37: 21:34923418-34923419
GRCh38: 21:33551112-33551113
30 SON NM_138927.4(SON):c.4999_5013del (p.Asp1667_Asn1671del) DEL Likely Pathogenic
617861 rs1569058041 GRCh37: 21:34926535-34926549
GRCh38: 21:33554229-33554243
31 SON and overlap with 1 gene(s) NM_138927.4(SON):c.1002_5016del (p.Glu335fs) DEL Likely Pathogenic
617862 GRCh37: 21:34922536-34926550
GRCh38: 21:33550230-33554244
32 SON NM_138927.4(SON):c.4358_4359del (p.Thr1453fs) MICROSAT Likely Pathogenic
617863 rs1601268952 GRCh37: 21:34925893-34925894
GRCh38: 21:33553587-33553588
33 SON NM_138927.4(SON):c.6087del (p.Ser2029fs) DEL Likely Pathogenic
617864 rs1569059792 GRCh37: 21:34927624-34927624
GRCh38: 21:33555318-33555318
34 SON NM_138927.4(SON):c.3597_3598dup (p.Pro1200fs) DUP Likely Pathogenic
617865 rs1569055781 GRCh37: 21:34925133-34925134
GRCh38: 21:33552827-33552828
35 SON NM_138927.4(SON):c.2365del (p.Ser789fs) DEL Likely Pathogenic
440941 rs1555898531 GRCh37: 21:34923902-34923902
GRCh38: 21:33551596-33551596
36 SON NM_138927.4(SON):c.268del (p.Ser90fs) DEL Likely Pathogenic
617867 rs1569050345 GRCh37: 21:34921801-34921801
GRCh38: 21:33549495-33549495
37 SON NM_138927.4(SON):c.4055del (p.Pro1352fs) DEL Likely Pathogenic
617868 rs1569056484 GRCh37: 21:34925589-34925589
GRCh38: 21:33553283-33553283
38 SON NM_138927.4(SON):c.4549dup (p.Glu1517fs) DUP Likely Pathogenic
617869 rs1569057333 GRCh37: 21:34926084-34926085
GRCh38: 21:33553778-33553779
39 SON NM_138927.4(SON):c.245-485_273delinsGTTG INDEL Likely Pathogenic
996849 rs2085688464 GRCh37: 21:34921297-34921810
GRCh38: 21:33548991-33549504
40 SON NM_138927.4(SON):c.4378_4381del (p.Val1460fs) DEL Likely Pathogenic
1687159 GRCh37: 21:34925913-34925916
GRCh38: 21:33553607-33553610
41 SON NM_138927.4(SON):c.4012_4013insCAGAA (p.Val1338fs) INSERT Likely Pathogenic
1687450 GRCh37: 21:34925549-34925550
GRCh38: 21:33553243-33553244
42 SON NM_138927.4(SON):c.1416del (p.Pro473fs) DEL Likely Pathogenic
1527956 GRCh37: 21:34922953-34922953
GRCh38: 21:33550647-33550647
43 SON NM_138927.4(SON):c.944_975delinsGTCTCTG (p.Glu315fs) INDEL Likely Pathogenic
1325110 GRCh37: 21:34922481-34922512
GRCh38: 21:33550175-33550206
44 SON NM_138927.4(SON):c.2977_2980delinsAATTTTATTCA (p.Leu993fs) INDEL Likely Pathogenic
1325111 GRCh37: 21:34924514-34924517
GRCh38: 21:33552208-33552211
45 SON NM_138927.4(SON):c.3852_3856del (p.Met1284fs) DEL Likely Pathogenic
252928 rs1114167303 GRCh37: 21:34925385-34925389
GRCh38: 21:33553079-33553083
46 SON NM_138927.4(SON):c.1658del (p.Val553fs) DEL Likely Pathogenic
869477 rs2085761543 GRCh37: 21:34923195-34923195
GRCh38: 21:33550889-33550889
47 SON NM_032195.2:c.(?_-55)_1405del DEL Likely Pathogenic
1285448 GRCh37:
GRCh38:
48 SON NM_138927.4(SON):c.4451T>C (p.Met1484Thr) SNV Uncertain Significance
1331047 GRCh37: 21:34925988-34925988
GRCh38: 21:33553682-33553682
49 SON NM_138927.4(SON):c.761C>T (p.Thr254Ile) SNV Uncertain Significance
1699488 GRCh37: 21:34922298-34922298
GRCh38: 21:33549992-33549992
50 SON NM_138927.4(SON):c.1096A>G (p.Lys366Glu) SNV Uncertain Significance
1325545 GRCh37: 21:34922633-34922633
GRCh38: 21:33550327-33550327

Expression for Zttk Syndrome

Search GEO for disease gene expression data for Zttk Syndrome.

Pathways for Zttk Syndrome

GO Terms for Zttk Syndrome

Sources for Zttk Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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