MCPH
MCID: PRM031
MIFTS: 47

Primary Autosomal Recessive Microcephaly (MCPH)

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

Aliases & Classifications for Primary Autosomal Recessive Microcephaly

MalaCards integrated aliases for Primary Autosomal Recessive Microcephaly:

Name: Primary Autosomal Recessive Microcephaly 12 25 29 6 15
Mcph 12 53 25 59
Autosomal Recessive Primary Microcephaly 53 25 59
True Microcephaly 53 25 59
Microcephalia Vera 53 59
Microcephaly Vera 53 59
Microcephaly, Primary, Autosomal Recessive 40
Microcephaly Primary Hereditary 25

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive primary microcephaly
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0070296
ICD10 via Orphanet 34 Q02
UMLS via Orphanet 73 C3711387
Orphanet 59 ORPHA2512

Summaries for Primary Autosomal Recessive Microcephaly

Genetics Home Reference : 25 Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head." Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal. MCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed. People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.

MalaCards based summary : Primary Autosomal Recessive Microcephaly, also known as mcph, is related to microcephaly 8, primary, autosomal recessive and microcephaly 11, primary, autosomal recessive. An important gene associated with Primary Autosomal Recessive Microcephaly is CIT (Citron Rho-Interacting Serine/Threonine Kinase), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include brain, bone and eye, and related phenotypes are agenesis of corpus callosum and hyperreflexia

Disease Ontology : 12 A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has material basis in an autosomal recessive mutation.

NIH Rare Diseases : 53 Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. MCPH causes mild to moderate intellectual disability, which does not worsen with age, and also mild delayed speech, motor, and language skills. Some people with MCPH have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. It normally does not affect any other major organ systems or cause other health problems. MCPH can result from changes (mutations) in the ASPM gene (half of the cases) and at least other ten genes which are involved in early brain development and brain size. It is inherited in an autosomal recessive pattern. There is no cure and treatment is supportive.

Related Diseases for Primary Autosomal Recessive Microcephaly

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 15, Primary, Autosomal Recessive Microcephaly 16, Primary, Autosomal Recessive
Microcephaly 17, Primary, Autosomal Recessive Microcephaly 18, Primary, Autosomal Dominant
Microcephaly 19, Primary, Autosomal Recessive Microcephaly 20, Primary, Autosomal Recessive
Microcephaly 21, Primary, Autosomal Recessive Microcephaly 22, Primary, Autosomal Recessive
Microcephaly 23, Primary, Autosomal Recessive Microcephaly 24, Primary, Autosomal Recessive
Microcephaly 25, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Primary Autosomal Recessive Microcephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 microcephaly 8, primary, autosomal recessive 34.4 CEP63 CEP135
2 microcephaly 11, primary, autosomal recessive 34.4 PHC1 MCPH1
3 microcephaly 13, primary, autosomal recessive 34.4 WDR62 MCPH1
4 microcephaly 16, primary, autosomal recessive 34.2 CEP63 ANKLE2
5 microcephaly 3, primary, autosomal recessive 34.1 MCPH1 CEP63 CEP152 CENPJ CDK5RAP2
6 microcephaly 6, primary, autosomal recessive 34.0 STIL MCPH1 CEP63 CEP152 CENPJ CDK5RAP2
7 microcephaly 4, primary, autosomal recessive 33.9 STIL MCPH1 KNL1 CEP63 CEP152 CENPJ
8 microcephaly 7, primary, autosomal recessive 33.9 WDR62 STIL MCPH1 CEP63 CEP152 CENPJ
9 microcephaly 5, primary, autosomal recessive 33.9 WDR62 STIL MCPH1 CEP63 CEP152 CENPJ
10 microcephaly 17, primary, autosomal recessive 33.8 WDR62 STIL MCPH1 CIT CEP63 CEP152
11 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 33.7 WDR62 STIL MCPH1 CEP63 CEP152 CENPJ
12 microcephaly 12, primary, autosomal recessive 33.3 WDR62 STIL PHC1 MCPH1 KNL1 CEP63
13 seckel syndrome 5 31.0 CEP152 CENPJ
14 seckel syndrome 30.7 MCPH1 CEP63 CEP152 CENPJ
15 seckel syndrome 1 30.6 CEP152 CENPJ
16 seckel syndrome 2 30.4 CEP152 CENPJ
17 primary microcephaly 29.9 WDR62 STIL SASS6 PHC1 MCPH1 KNL1
18 microcephaly 29.2 WDR62 STIL SASS6 PHC1 MFSD2A MCPH1
19 microcephaly 18, primary, autosomal dominant 29.1 WDR62 STIL SASS6 PHC1 MFSD2A MCPH1
20 microcephaly 10, primary, autosomal recessive 12.3
21 microcephaly 1, primary, autosomal recessive 12.3
22 microcephaly 9, primary, autosomal recessive 12.3
23 microcephaly 14, primary, autosomal recessive 12.3
24 microcephaly 15, primary, autosomal recessive 12.3
25 microcephaly 19, primary, autosomal recessive 12.3
26 microcephaly 20, primary, autosomal recessive 11.9
27 microcephaly 21, primary, autosomal recessive 11.9
28 microcephaly 22, primary, autosomal recessive 11.9
29 microcephaly 23, primary, autosomal recessive 11.9
30 microcephaly 24, primary, autosomal recessive 11.9
31 microcephaly 25, primary, autosomal recessive 11.9
32 microcephaly, amish type 11.5
33 microcephalic osteodysplastic primordial dwarfism, type ii 10.6 CENPJ CDK5RAP2
34 physical disorder 10.4 WDR62 MCPH1 CEP63 CENPJ CDK5RAP2
35 congenital nervous system abnormality 10.3 WDR62 STIL MCPH1 CEP63 CEP152 CENPJ
36 craniosynostosis 10.1
37 coloboma of macula 10.1
38 asthma 10.1
39 porencephaly 10.1
40 hydronephrosis 10.1
41 alternating exotropia 10.1
42 exotropia 10.1
43 speech disorder 10.1
44 allergic asthma 10.1
45 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.0
46 nondisjunction 10.0
47 cerebellar hypoplasia 10.0
48 meier-gorlin syndrome 1 10.0
49 isolated growth hormone deficiency, type ia 10.0
50 seckel syndrome 4 10.0

Graphical network of the top 20 diseases related to Primary Autosomal Recessive Microcephaly:



Diseases related to Primary Autosomal Recessive Microcephaly

Symptoms & Phenotypes for Primary Autosomal Recessive Microcephaly

Human phenotypes related to Primary Autosomal Recessive Microcephaly:

59 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 Frequent (79-30%)
2 hyperreflexia 59 Frequent (79-30%)
3 global developmental delay 59 Very frequent (99-80%)
4 abnormal cortical bone morphology 59 Frequent (79-30%)
5 microcephaly 59 Very frequent (99-80%)
6 short stature 59 Very frequent (99-80%)
7 intellectual disability, severe 59 Very frequent (99-80%)
8 growth delay 59 Very frequent (99-80%)
9 ventriculomegaly 59 Frequent (79-30%)
10 hypoplasia of the frontal lobes 59 Frequent (79-30%)
11 vesicoureteral reflux 59 Frequent (79-30%)
12 upslanted palpebral fissure 59 Very frequent (99-80%)
13 thin upper lip vermilion 59 Very frequent (99-80%)
14 pachygyria 59 Frequent (79-30%)
15 sloping forehead 59 Very frequent (99-80%)
16 unilateral renal agenesis 59 Frequent (79-30%)
17 heterotopia 59 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Primary Autosomal Recessive Microcephaly according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Effect on mitosis GR00257-A-2 9.43 ASPM CEP135 CIT KIF14 MCPH1 SASS6
2 G0/1 arrest GR00098-A-2 9.02 CENPJ CEP63 CIT COPB2 KNL1

MGI Mouse Phenotypes related to Primary Autosomal Recessive Microcephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 ASPM CDK5RAP2 CDK6 CENPJ CEP152 CEP63
2 growth/size/body region MP:0005378 9.97 ASPM CDK5RAP2 CDK6 CENPJ CEP63 CIT
3 nervous system MP:0003631 9.73 ASPM CDK5RAP2 CENPJ CEP152 CEP63 CIT
4 reproductive system MP:0005389 9.23 ASPM CDK5RAP2 CDK6 CENPJ CEP63 CIT

Drugs & Therapeutics for Primary Autosomal Recessive Microcephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA) Completed NCT01565005

Search NIH Clinical Center for Primary Autosomal Recessive Microcephaly

Genetic Tests for Primary Autosomal Recessive Microcephaly

Genetic tests related to Primary Autosomal Recessive Microcephaly:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 29

Anatomical Context for Primary Autosomal Recessive Microcephaly

MalaCards organs/tissues related to Primary Autosomal Recessive Microcephaly:

41
Brain, Bone, Eye, Heart

Publications for Primary Autosomal Recessive Microcephaly

Articles related to Primary Autosomal Recessive Microcephaly:

(show top 50) (show all 184)
# Title Authors PMID Year
1
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. 38 71
27519304 2016
2
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. 38 71
27453578 2016
3
Refining the phenotype associated with CASC5 mutation. 38 71
26626498 2016
4
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 38 71
24951542 2014
5
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing. 38 71
23726037 2014
6
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. 38 71
23918663 2013
7
Genetic heterogeneity in Pakistani microcephaly families. 38 71
22775483 2013
8
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 38 71
22983954 2012
9
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. 38 71
22521416 2012
10
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 38 71
20978018 2010
11
WDR62 is associated with the spindle pole and is mutated in human microcephaly. 38 71
20890279 2010
12
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 38 71
20598275 2010
13
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1. 38 71
20101680 2010
14
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 38 71
20301772 2009
15
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. 38 71
19332161 2009
16
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. 38 71
19215732 2009
17
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. 38 71
17764569 2007
18
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. 38 71
16783362 2006
19
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 38 71
16900296 2006
20
ASPM mutations identified in patients with primary microcephaly and seizures. 38 71
16141009 2005
21
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. 38 71
15355437 2004
22
ASPM is a major determinant of cerebral cortical size. 38 71
12355089 2002
23
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. 38 71
10677332 2000
24
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. 38 71
10521316 1999
25
Genomic and phenotypic delineation of congenital microcephaly. 71
30214071 2019
26
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. 71
27503289 2016
27
Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities. 71
27761245 2016
28
First clinical report of an infant with microcephaly and CASC5 mutations. 71
27149178 2016
29
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. 71
27453579 2016
30
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family. 71
26657937 2016
31
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 71
26005865 2015
32
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 71
26005868 2015
33
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. 71
25218063 2015
34
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 71
25259927 2014
35
Cerebral organoids model human brain development and microcephaly. 71
23995685 2013
36
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. 71
23418308 2013
37
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. 71
22989186 2013
38
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. 71
22887808 2012
39
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. 71
21834044 2011
40
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 71
20890278 2010
41
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. 71
20729831 2010
42
Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. 71
18452193 2008
43
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. 71
16311745 2006
44
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 71
15793586 2005
45
Mutations in microcephalin cause aberrant regulation of chromosome condensation. 71
15199523 2004
46
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. 71
12843329 2003
47
Identification of microcephalin, a protein implicated in determining the size of the human brain. 71
12046007 2002
48
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. 71
11857108 2002
49
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. 71
10573015 1999
50
Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly. 71
7693575 1993

Variations for Primary Autosomal Recessive Microcephaly

ClinVar genetic disease variations for Primary Autosomal Recessive Microcephaly:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CIT NM_001206999.2(CIT): c.29_38del (p.Asn10fs) deletion Pathogenic rs879253817 12:120313935-120313944 12:119876131-119876140
2 CIT NM_001206999.2(CIT): c.1111+1G> A single nucleotide variant Pathogenic rs879255522 12:120260623-120260623 12:119822819-119822819
3 CIT NM_001206999.2(CIT): c.473C> G (p.Pro158Arg) single nucleotide variant Pathogenic rs879255524 12:120288021-120288021 12:119850217-119850217
4 CIT NM_001206999.2(CIT): c.412C> T (p.Gln138Ter) single nucleotide variant Pathogenic rs879255523 12:120295329-120295329 12:119857525-119857525
5 ASPM NM_018136.5(ASPM): c.4720C> T (p.Gln1574Ter) single nucleotide variant Likely pathogenic rs776034810 1:197073661-197073661 1:197104531-197104531

Expression for Primary Autosomal Recessive Microcephaly

Search GEO for disease gene expression data for Primary Autosomal Recessive Microcephaly.

Pathways for Primary Autosomal Recessive Microcephaly

Pathways related to Primary Autosomal Recessive Microcephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 NCAPD3 MCPH1 KNL1 CEP63 CEP152 CEP135
2
Show member pathways
12.08 CEP63 CEP152 CEP135 CENPJ CDK5RAP2

GO Terms for Primary Autosomal Recessive Microcephaly

Cellular components related to Primary Autosomal Recessive Microcephaly according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.93 WDR62 STIL SASS6 MCPH1 KIF14 CEP63
2 microtubule organizing center GO:0005815 9.86 WDR62 SASS6 MCPH1 CEP63 CEP152 CENPJ
3 microtubule GO:0005874 9.78 KIF14 CENPJ CDK5RAP2 ASPM
4 midbody GO:0030496 9.69 KIF14 CIT ASPM
5 spindle pole GO:0000922 9.63 WDR62 CEP63 CDK5RAP2
6 centriole GO:0005814 9.5 WDR62 STIL SASS6 CEP63 CEP152 CEP135
7 mitotic spindle pole GO:0097431 9.49 CDK5RAP2 ASPM
8 pericentriolar material GO:0000242 9.43 CEP152 CDK5RAP2
9 deuterosome GO:0098536 9.32 SASS6 CEP152
10 centrosome GO:0005813 9.32 WDR62 STIL SASS6 CEP63 CEP152 CEP135
11 cytoplasm GO:0005737 10.25 WDR62 STIL SASS6 MCPH1 KIF14 COPB2
12 cytosol GO:0005829 10.18 WDR62 STIL SASS6 KNL1 KIF14 COPB2

Biological processes related to Primary Autosomal Recessive Microcephaly according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.77 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
2 cerebral cortex development GO:0021987 9.73 WDR62 MCPH1 KIF14 ASPM
3 G2/M transition of mitotic cell cycle GO:0000086 9.73 CIT CEP63 CEP152 CEP135 CENPJ CDK5RAP2
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.63 KIF14 CEP63 CEP152 CEP135 CENPJ CDK5RAP2
5 centrosome duplication GO:0051298 9.62 STIL SASS6 CEP152 CENPJ
6 cell division GO:0051301 9.61 NCAPD3 KNL1 KIF14 CIT CEP63 CENPJ
7 establishment of mitotic spindle orientation GO:0000132 9.56 MCPH1 CDK5RAP2
8 neuronal stem cell population maintenance GO:0097150 9.55 MCPH1 ASPM
9 protein localization to centrosome GO:0071539 9.54 STIL MCPH1
10 generation of neurons GO:0048699 9.52 CIT CDK6
11 positive regulation of non-motile cilium assembly GO:1902857 9.51 CEP135 CENPJ
12 regulation of centriole replication GO:0046599 9.49 STIL CENPJ
13 positive regulation of establishment of protein localization GO:1904951 9.48 CEP135 CENPJ
14 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.46 CEP63 CEP152
15 centriole replication GO:0007099 9.17 WDR62 SASS6 CEP63 CEP152 CEP135 CENPJ
16 cell cycle GO:0007049 10.01 SASS6 NCAPD3 KNL1 CIT CEP63 CDK6

Molecular functions related to Primary Autosomal Recessive Microcephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 WDR62 STIL SASS6 PHC1 NCAPD3 MCPH1
2 protein kinase binding GO:0019901 9.46 KIF14 CEP152 CENPJ CDK5RAP2
3 tubulin binding GO:0015631 8.8 KIF14 CENPJ CDK5RAP2

Sources for Primary Autosomal Recessive Microcephaly

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