SMMCI
MCID: SLT005
MIFTS: 49

Solitary Median Maxillary Central Incisor (SMMCI)

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Solitary Median Maxillary Central Incisor

MalaCards integrated aliases for Solitary Median Maxillary Central Incisor:

Name: Solitary Median Maxillary Central Incisor 57 12 20 72 15 70
Solitary Median Maxillary Central Incisor Syndrome 20 36 29 6
Single Upper Central Incisor 57 12 20 39
Smmci 57 12 20 72
Single Median Maxillary Central Incisor 57 12 13
Single Central Maxillary Incisor 57 12 20
Fused Incisors 57 12 20
Incisors Fused 73 20
Incisors, Fused 57

Characteristics:

OMIM®:

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

Miscellaneous:
smcci can be an isolated anomaly, part of a syndrome or association as in vacterl and charge , part of autosomal dominant holoprosencephaly spectrum such as in hpe3 , hpe2 , and hpe4 , or a feature in chromosomal abnormalities such as del(18p) and del(7)(q36->qter)


HPO:

31
solitary median maxillary central incisor:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Solitary Median Maxillary Central Incisor

KEGG : 36 Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player in ventral axis patterning, is associated with the disorder.

MalaCards based summary : Solitary Median Maxillary Central Incisor, also known as solitary median maxillary central incisor syndrome, is related to hypopituitarism and cleft palate, isolated. An important gene associated with Solitary Median Maxillary Central Incisor is SHH (Sonic Hedgehog Signaling Molecule), and among its related pathways/superpathways are Hedgehog signaling pathway and Signaling by Hedgehog. Affiliated tissues include brain, skin and pituitary, and related phenotypes are holoprosencephaly and microcephaly

Disease Ontology : 12 A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has material basis in heterozygous mutation in SHH on chromosome 7q36.3.

UniProtKB/Swiss-Prot : 72 Solitary median maxillary central incisor: Rare dental anomaly characterized by the congenital absence of one maxillary central incisor.

Wikipedia : 73 Tooth fusion arises through union of two normally separated tooth germs, and depending upon the stage of... more...

More information from OMIM: 147250

Related Diseases for Solitary Median Maxillary Central Incisor

Diseases related to Solitary Median Maxillary Central Incisor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 hypopituitarism 30.8 SIX3 SHH GLI2
2 cleft palate, isolated 30.3 SHH PTCH1 GLI2 FGF8
3 microcephaly 30.0 ZIC2 SHH PTCH1 MNX1 GLI2 FGF8
4 semilobar holoprosencephaly 28.2 ZIC2 TGIF1 SIX3 SHH PTCH1 NODAL
5 holoprosencephaly 28.1 ZIC2 TGIF1 SIX3 SHH PTCH1 PRCP
6 thumb deformity, alopecia, pigmentation anomaly 11.5
7 incisors, fused mandibular 11.2
8 choanal atresia, posterior 10.7
9 alacrima, achalasia, and mental retardation syndrome 10.6
10 hair whorl 10.5
11 growth hormone deficiency 10.5
12 hemifacial microsomia 10.4
13 strabismus 10.4
14 pituitary hormone deficiency, combined, 2 10.4
15 hypothyroidism 10.4
16 cleft lip 10.4
17 mechanical strabismus 10.4
18 central nervous system lipoma 10.3 ZIC2 SIX3
19 calcifying epithelial odontogenic tumor 10.3 PTCH1 GLI2
20 hashimoto thyroiditis 10.2
21 digeorge syndrome 10.2
22 vater/vacterl association 10.2
23 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
24 duodenal atresia 10.2
25 duane-radial ray syndrome 10.2
26 scoliosis 10.2
27 isolated growth hormone deficiency 10.2
28 duane retraction syndrome 10.2
29 vacterl association 10.2
30 ectodermal dysplasia 10.2
31 inappropriate adh syndrome 10.2
32 myopathy 10.2
33 thyroiditis 10.2
34 diabetes insipidus 10.2
35 penis agenesis 10.2
36 precocious puberty 10.2
37 isolated duane retraction syndrome 10.2
38 submucosal cleft palate 10.2
39 polydactyly, preaxial ii 10.2 SHH PTCH1
40 tooth size 10.2 SHH FGF8
41 hypertelorism 10.2
42 townes-brocks syndrome 10.2
43 chromosomal triplication 10.2
44 chromosome 6q deletion 10.2
45 hypotonia 10.2
46 trisomy 1q 10.2
47 holoprosencephaly 8 10.2 ZIC2 DISP1 CDON
48 orofaciodigital syndrome viii 10.2 ZIC2 SIX3 DISP1
49 holoprosencephaly, recurrent infections, and monocytosis 10.2 SIX3 PTCH1 GLI2
50 melanotic medulloblastoma 10.2 SHH PTCH1 GLI2

Graphical network of the top 20 diseases related to Solitary Median Maxillary Central Incisor:



Diseases related to Solitary Median Maxillary Central Incisor

Symptoms & Phenotypes for Solitary Median Maxillary Central Incisor

Human phenotypes related to Solitary Median Maxillary Central Incisor:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 holoprosencephaly 31 frequent (33%) HP:0001360
2 microcephaly 31 occasional (7.5%) HP:0000252
3 anosmia 31 occasional (7.5%) HP:0000458
4 anophthalmia 31 occasional (7.5%) HP:0000528
5 microphthalmia 31 occasional (7.5%) HP:0000568
6 cyclopia 31 occasional (7.5%) HP:0009914
7 coloboma 31 occasional (7.5%) HP:0000589
8 short stature 31 very rare (1%) HP:0004322
9 intellectual disability, mild 31 very rare (1%) HP:0001256
10 specific learning disability 31 very rare (1%) HP:0001328
11 cleft upper lip 31 very rare (1%) HP:0000204
12 choanal atresia 31 very rare (1%) HP:0000453
13 hypotelorism 31 very rare (1%) HP:0000601
14 single median maxillary incisor 31 very rare (1%) HP:0006315
15 abnormality of chromosome segregation 31 very rare (1%) HP:0002916
16 midnasal stenosis 31 very rare (1%) HP:0010644
17 abnormal nasopharynx morphology 31 very rare (1%) HP:0001739
18 decreased response to growth hormone stimuation test 31 very rare (1%) HP:0000824
19 prominent median palatal raphe 31 very rare (1%) HP:0002708
20 torus palatinus 31 HP:0100789
21 pyriform aperture stenosis 31 HP:0025011

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Respiratory Nasopharynx:
choanal atresia
midnasal stenosis
congenital nasal pyriform aperture stenosis

Endocrine Features:
hypopituitarism
isolated growth hormone deficiency

Head And Neck Teeth:
single median maxillary central incisor (smmci)

Growth Height:
short stature

Head And Neck Eyes:
hypotelorism

Head And Neck Mouth:
prominent midpalatal ridge (torus palatinus)

Clinical features from OMIM®:

147250 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Solitary Median Maxillary Central Incisor:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 CDON DISP1 DYNC2I1 FBXW11 FGF8 FOXH1
2 growth/size/body region MP:0005378 10.39 CDON DISP1 DYNC2I1 FGF8 FOXH1 GAS1
3 behavior/neurological MP:0005386 10.36 CDON DYNC2I1 FGF8 GAS1 GLI2 MNX1
4 cellular MP:0005384 10.35 CDON DISP1 FBXW11 FGF8 GAS1 GLI2
5 embryo MP:0005380 10.35 CDON DISP1 DYNC2I1 FGF8 FOXH1 GAS1
6 craniofacial MP:0005382 10.34 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
7 digestive/alimentary MP:0005381 10.33 CDON DISP1 FBXW11 FGF8 FOXH1 GLI2
8 mortality/aging MP:0010768 10.31 CDON DISP1 DYNC2I1 FBXW11 FGF8 FOXH1
9 homeostasis/metabolism MP:0005376 10.26 DISP1 FBXW11 FGF8 FOXH1 GAS1 GLI2
10 endocrine/exocrine gland MP:0005379 10.18 DISP1 FBXW11 FGF8 FOXH1 GLI2 MNX1
11 nervous system MP:0003631 10.18 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
12 limbs/digits/tail MP:0005371 10.11 CDON DISP1 FGF8 GAS1 GLI2 PTCH1
13 respiratory system MP:0005388 10.07 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
14 hearing/vestibular/ear MP:0005377 10.04 FGF8 FOXH1 GAS1 GLI2 PTCH1 SHH
15 normal MP:0002873 10.02 DISP1 FGF8 FOXH1 GLI2 MNX1 NODAL
16 muscle MP:0005369 10.01 DISP1 FGF8 FOXH1 GLI2 MNX1 NODAL
17 skeleton MP:0005390 9.97 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
18 vision/eye MP:0005391 9.4 CDON DISP1 FGF8 FOXH1 GAS1 GLI2
19 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Solitary Median Maxillary Central Incisor

Search Clinical Trials , NIH Clinical Center for Solitary Median Maxillary Central Incisor

Genetic Tests for Solitary Median Maxillary Central Incisor

Genetic tests related to Solitary Median Maxillary Central Incisor:

# Genetic test Affiliating Genes
1 Solitary Median Maxillary Central Incisor Syndrome 29 SHH

Anatomical Context for Solitary Median Maxillary Central Incisor

MalaCards organs/tissues related to Solitary Median Maxillary Central Incisor:

40
Brain, Skin, Pituitary

Publications for Solitary Median Maxillary Central Incisor

Articles related to Solitary Median Maxillary Central Incisor:

(show top 50) (show all 75)
# Title Authors PMID Year
1
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. 6 61 57
11471164 2001
2
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. 6 57
12567406 2003
3
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. 61 6
26080100 2015
4
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 6 61
15103725 2004
5
Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome. 57 61
9431535 1997
6
Congenital nasal pyriform aperture stenosis. Isolated abnormality vs developmental field defect. 57
1503729 1992
7
[Single maxillary central incisor and holoprosencephaly]. 57
1465328 1992
8
Single maxillary central incisor in a girl with del(18p) syndrome. 57
1920368 1991
9
Microphthalmia with single central incisor and hypopituitarism. 57
2325094 1990
10
A single maxillary incisor as a manifestation of an ectodermal dysplasia. 57
2585463 1989
11
Holoprosencephaly: a developmental field defect. 57
2629725 1989
12
Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia. 57
3344769 1988
13
Single central maxillary incisor and holoprosencephaly. 57
3425622 1987
14
Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly. 57
3113318 1987
15
Single central incisor in familial holoprosencephaly. 57
6726520 1984
16
Solitary central maxillary incisor associated with precocious puberty and hypothalamic hamartoma. 57
7143176 1982
17
18p - syndrome with a single central maxillary incisor. 57
7328621 1981
18
Solitary maxillary central incisor and short stature. 57
925821 1977
19
Competitive Revenue Strategies in the Medical Consumables Industry: Evidence from Human Resources, Research and Development Expenses and Industry Life Cycle. 61
33808638 2021
20
Solitary median maxillary central incisor with congenital strabismus and autoimmune thyroiditis in a young child. 61
33622753 2021
21
Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway. 61
32335464 2020
22
Solitary median maxillary central incisor syndrome: A rare entity. 61
33456262 2020
23
Solitary Median Maxillary Central Incisor due to Nasal Pyriform Aperture Stenosis in Fetus: The First Prenatal Ultrasound Case Report. 61
32904152 2020
24
Radiologic, genetic, and endocrine findings in isolated congenital nasal pyriform aperture stenosis patients. 61
31606685 2020
25
The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes. 61
30900264 2019
26
Clinical Evaluation of Solitary Median Maxillary Central Incisor Syndrome. 61
31612083 2019
27
A complex phenotype in a family with a pathogenic SOX3 missense variant. 61
29175558 2018
28
Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. 61
29333838 2018
29
Congenital nasal pyriform aperture stenosis in association with solitary median maxillary central incisor: unique radiologic features. 61
27594945 2016
30
Solitary Median Maxillary Central Incisor Versus Agenesis of the Maxillary Central Incisor. 61
27098718 2016
31
Solitary Median Maxillary Central Incisor. 61
26138879 2015
32
Dental Items of Interest: The Case of Delphic Sibyl by Michelangelo: Solitary Median Maxillary Central Incisor or Mesiodens. 61
26930847 2015
33
CT and MRI of congenital nasal lesions in syndromic conditions. 61
25573243 2015
34
Solitary median maxillary central incisor: A case report of a rare dental anomaly. 61
26015739 2015
35
Premolar transplantation in a patient with solitary median maxillary central incisor syndrome. 61
25432260 2014
36
[Solitary median maxillary central incisor syndrome]. 61
25296470 2014
37
Clinical course and implications of congenital nasal pyriform stenosis and solitary median maxillary central incisor in a newborn: a case report. 61
24950703 2014
38
[Solitary median maxillary central incisor syndrome:a case of report]. 61
24935855 2014
39
Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report. 61
24598504 2014
40
Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up. 61
23775592 2013
41
[Congenital piriform aperture stenosis and odontogenic disorders]. 61
23838241 2013
42
Solitary median maxillary central incisor, a clinical predictor of hypoplastic anterior pituitary, ectopic neurohypophysis and growth hormone deficiency. 61
23729612 2013
43
Concomitant solitary median maxillary central incisor and fused right mandibular incisor in primary dentition. 61
23230364 2012
44
Solitary median maxillary central incisor: a report of 2 cases. 61
22583889 2012
45
The primary Maxillary Central Incisor in the Solitary Median Maxillary Central Incisor syndrome. 61
22455533 2012
46
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. 61
22138217 2012
47
Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay. 61
23431743 2012
48
Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature. 61
22346174 2011
49
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features. 61
21167328 2011
50
Palatal expansion in a patient with solitary median maxillary central incisor syndrome. 61
20889056 2010

Variations for Solitary Median Maxillary Central Incisor

ClinVar genetic disease variations for Solitary Median Maxillary Central Incisor:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHH NM_000193.4(SHH):c.331A>T (p.Ile111Phe) SNV Pathogenic 8890 rs104894049 GRCh37: 7:155599221-155599221
GRCh38: 7:155806527-155806527
2 SHH NM_000193.4(SHH):c.995T>C (p.Val332Ala) SNV Pathogenic 8894 rs104894052 GRCh37: 7:155595988-155595988
GRCh38: 7:155803294-155803294
3 SHH NM_000193.4(SHH):c.383G>A (p.Trp128Ter) SNV Pathogenic 8895 rs104894053 GRCh37: 7:155599169-155599169
GRCh38: 7:155806475-155806475
4 SIX3 NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) SNV Pathogenic 30381 rs199823175 GRCh37: 2:45169352-45169352
GRCh38: 2:44942213-44942213
5 SHH NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 8886 rs137853341 GRCh37: 7:155595836-155595836
GRCh38: 7:155803142-155803142
6 SHH NM_000193.4(SHH):c.629G>A (p.Gly210Asp) SNV Uncertain significance 545581 rs1554493882 GRCh37: 7:155596354-155596354
GRCh38: 7:155803660-155803660

UniProtKB/Swiss-Prot genetic disease variations for Solitary Median Maxillary Central Incisor:

72
# Symbol AA change Variation ID SNP ID
1 SHH p.Ile111Phe VAR_017883 rs104894049
2 SHH p.Val332Ala VAR_023810 rs104894052

Expression for Solitary Median Maxillary Central Incisor

Search GEO for disease gene expression data for Solitary Median Maxillary Central Incisor.

Pathways for Solitary Median Maxillary Central Incisor

Pathways related to Solitary Median Maxillary Central Incisor according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Solitary Median Maxillary Central Incisor

Biological processes related to Solitary Median Maxillary Central Incisor according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.24 ZNF778 ZIC2 TGIF1 SIX3 MNX1 GLI2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.18 SIX3 SHH NODAL GLI2 FOXH1 CDON
3 multicellular organism development GO:0007275 10.15 ZIC2 SIX3 SHH NODAL GLI2 FGF8
4 positive regulation of transcription, DNA-templated GO:0045893 10.08 ZIC2 SHH PTCH1 GLI2 FOXH1 FBXW11
5 negative regulation of transcription by RNA polymerase II GO:0000122 10.07 ZNF778 TGIF1 SHH PTCH1 NODAL GLI2
6 brain development GO:0007420 9.97 ZIC2 SIX3 PTCH1 NODAL
7 heart development GO:0007507 9.94 SHH NODAL GLI2 FGF8
8 central nervous system development GO:0007417 9.89 ZIC2 SHH MNX1
9 kidney development GO:0001822 9.89 SHH GLI2 FGF8
10 pattern specification process GO:0007389 9.79 SHH PTCH1 GLI2
11 lung development GO:0030324 9.78 SHH NODAL GLI2 FGF8
12 branching involved in ureteric bud morphogenesis GO:0001658 9.74 SHH PTCH1 FGF8
13 dopaminergic neuron differentiation GO:0071542 9.72 SHH FGF8
14 thyroid gland development GO:0030878 9.71 SHH FGF8
15 regulation of smoothened signaling pathway GO:0008589 9.71 PTCH1 GAS1
16 lung morphogenesis GO:0060425 9.71 SHH FGF8
17 embryonic morphogenesis GO:0048598 9.71 SHH CDON
18 cell fate commitment GO:0045165 9.71 SHH NODAL GAS1 FGF8
19 striated muscle cell differentiation GO:0051146 9.7 SHH CDON
20 hindbrain development GO:0030902 9.7 SHH GLI2
21 pharyngeal system development GO:0060037 9.69 PTCH1 FGF8
22 male genitalia development GO:0030539 9.69 SHH FGF8
23 osteoblast development GO:0002076 9.69 SHH GLI2
24 embryonic pattern specification GO:0009880 9.69 SHH NODAL DISP1
25 somite development GO:0061053 9.68 SHH PTCH1
26 embryonic heart tube development GO:0035050 9.68 NODAL FGF8
27 aorta morphogenesis GO:0035909 9.68 FOXH1 FGF8
28 negative regulation of androgen receptor signaling pathway GO:0060766 9.68 NODAL FOXH1
29 digestive tract morphogenesis GO:0048546 9.67 SHH NODAL
30 prostate gland development GO:0030850 9.67 SHH PTCH1
31 developmental growth GO:0048589 9.67 SHH GLI2 GAS1
32 smoothened signaling pathway GO:0007224 9.67 SHH PTCH1 GLI2 CDON
33 branching involved in salivary gland morphogenesis GO:0060445 9.66 SHH FGF8
34 smooth muscle tissue development GO:0048745 9.66 SHH PTCH1
35 cell proliferation in forebrain GO:0021846 9.65 SIX3 FGF8
36 metanephric collecting duct development GO:0072205 9.65 SHH PTCH1
37 positive regulation of T cell differentiation in thymus GO:0033089 9.65 SHH GLI2
38 positive regulation of skeletal muscle tissue development GO:0048643 9.64 SHH CDON
39 telencephalon regionalization GO:0021978 9.63 SIX3 SHH
40 forebrain dorsal/ventral pattern formation GO:0021798 9.63 SIX3 FGF8
41 spinal cord motor neuron differentiation GO:0021522 9.63 SHH PTCH1 GLI2
42 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.62 PTCH1 GLI2
43 mammary gland duct morphogenesis GO:0060603 9.62 PTCH1 GLI2
44 heart looping GO:0001947 9.62 SHH NODAL FOXH1 FGF8
45 anatomical structure formation involved in morphogenesis GO:0048646 9.61 SHH NODAL GLI2
46 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.59 SHH GLI2
47 spinal cord dorsal/ventral patterning GO:0021513 9.58 SHH GLI2
48 hindgut morphogenesis GO:0007442 9.58 SHH GLI2
49 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.56 NODAL FOXH1
50 formation of anatomical boundary GO:0048859 9.55 SHH NODAL

Molecular functions related to Solitary Median Maxillary Central Incisor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 ZNF778 ZIC2 TGIF1 SIX3 MNX1 GLI2
2 co-SMAD binding GO:0070410 9.26 TGIF1 FOXH1
3 patched binding GO:0005113 9.16 SHH PTCH1
4 morphogen activity GO:0016015 8.62 SHH NODAL

Sources for Solitary Median Maxillary Central Incisor

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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