MCID: MCR099
MIFTS: 44

Microlissencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Microlissencephaly

MalaCards integrated aliases for Microlissencephaly:

Name: Microlissencephaly 11 58 28 5 14 38 71 75

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0112234
ICD10 via Orphanet 32 Q04.3
UMLS via Orphanet 72 C1956147
Orphanet 58 ORPHA1083
UMLS 71 C1956147

Summaries for Microlissencephaly

Orphanet: 58 Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.

MalaCards based summary: Microlissencephaly is related to lissencephaly 4 and corpus callosum, agenesis of. An important gene associated with Microlissencephaly is WDR81 (WD Repeat Domain 81), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include brain, cortex and fetal brain, and related phenotypes are microcephaly and global developmental delay

Disease Ontology: 11 A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.

Wikipedia: 75 Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly (small... more...

Related Diseases for Microlissencephaly

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 4 32.3 PAFAH1B1 NDEL1 NDE1
2 corpus callosum, agenesis of 30.5 TUBA1A CDK5RAP2
3 hydranencephaly 30.0 WDR81 TUBA1A NDE1
4 lissencephaly 2 29.9 WDR62 TUBG1 TUBB2B TUBB2A TUBA1A RELN
5 cerebellar hypoplasia 29.9 WDR81 RELN PAFAH1B1
6 lissencephaly 3 29.9 TUBA1A PAFAH1B1 CENPJ
7 baraitser-winter syndrome 29.7 TUBB2B TUBA1A
8 lissencephaly 1 29.5 TUBA1A RELN PAFAH1B1 NDEL1 NDE1
9 pontocerebellar hypoplasia 29.3 WDR81 WDR62 TUBB2B TUBA8 TUBA1A RELN
10 polymicrogyria 29.2 WDR62 TUBG1 TUBB2B TUBB2A TUBA8 TUBA1A
11 lissencephaly 29.1 WDR62 TUBG1 TUBB2B TUBA8 TUBA3E TUBA1A
12 microcephaly 17, primary, autosomal recessive 28.9 WDR62 STIL CEP152 CENPJ CDK5RAP2 ASPM
13 isolated growth hormone deficiency, type ia 28.8 WDR62 STIL CEP152 CENPJ CDK5RAP2 ASPM
14 microcephaly 28.2 WDR81 WDR62 TUBG1 TUBA1A STIL NDEL1
15 primary microcephaly 28.1 WDR62 TUBG1 TUBA3E TUBA1A STIL NDE1
16 tubulinopathy 27.9 WDR62 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8
17 microlissencephaly-micromelia syndrome 11.3
18 cortical dysplasia, complex, with other brain malformations 7 11.1
19 lissencephaly 6 10.9
20 tubulinopathy-associated dysgyria 10.2 TUBB2B TUBA1A
21 bilateral generalized polymicrogyria 10.2 WDR62 TUBB2B
22 intellectual disability - hypoplastic corpus callosum - preauricular tag 10.2 TUBA1A CDK5RAP2
23 hypomelanosis of ito 10.2 TUBA1A PAFAH1B1
24 chromosome 15q11.2 deletion syndrome 10.1 TUBG1 PAFAH1B1
25 microcephaly 11, primary, autosomal recessive 10.1 WDR62 CENPJ
26 chromosome 17p13.3, centromeric, duplication syndrome 10.1 WDR81 PAFAH1B1 NDEL1
27 zika virus congenital syndrome 10.1 STIL CDK5RAP2
28 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 10.1 WDR62 CEP152
29 aicardi syndrome 10.0 WDR62 TUBB2B
30 microcephaly 1, primary, autosomal recessive 10.0 CENPJ ASPM
31 leukodystrophy, hypomyelinating, 6 10.0 TUBB2B TUBB2A TUBA8 TUBA1A
32 seckel syndrome 4 10.0 CENPJ CDK5RAP2 ASPM
33 microcephaly 16, primary, autosomal recessive 10.0 WDR62 CEP152 CENPJ
34 seckel syndrome 5 10.0 CEP152 CENPJ
35 microcephaly 6, primary, autosomal recessive 10.0 WDR62 CEP152 CENPJ
36 isolated growth hormone deficiency 9.9 CEP152 CENPJ CDK5RAP2
37 complex cortical dysplasia with other brain malformations 9.9 TUBB2B TUBB2A KIF5C
38 seckel syndrome 2 9.9 CEP152 CENPJ CDK5RAP2
39 tubulin, beta 9.9 TUBB6 TUBB2B TUBB2A
40 neuronal migration disorders 9.9 WDR62 TUBA1A RELN
41 arthrogryposis, distal, type 1a 9.8
42 hypertelorism 9.8
43 fetal akinesia deformation sequence 1 9.8
44 microcephalic osteodysplastic primordial dwarfism, type i 9.8
45 hydrocephalus, congenital, 1 9.8
46 baraitser-winter syndrome 1 9.8
47 pseudovaginal perineoscrotal hypospadias 9.8
48 roberts-sc phocomelia syndrome 9.8
49 microhydranencephaly 9.8
50 cortical dysplasia, complex, with other brain malformations 1 9.8

Graphical network of the top 20 diseases related to Microlissencephaly:



Diseases related to Microlissencephaly

Symptoms & Phenotypes for Microlissencephaly

Human phenotypes related to Microlissencephaly:

58 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 30 Obligate (100%) Obligate (100%)
HP:0000252
2 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
3 delayed speech and language development 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000750
4 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010864
5 hypoplasia of the corpus callosum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002079
6 cerebral dysmyelination 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007266
7 neuronal loss in the cerebral cortex 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007190
8 bilateral tonic-clonic seizure with generalized onset 30 Hallmark (90%) HP:0025190
9 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001347
10 abnormal facial shape 58 30 Frequent (33%) Frequent (79-30%)
HP:0001999
11 hypertonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001276
12 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
13 cerebral cortical atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002120
14 thick cerebral cortex 58 30 Frequent (33%) Frequent (79-30%)
HP:0006891
15 polymicrogyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002126
16 pachygyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001302
17 cerebellar atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001272
18 pneumonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002090
19 periventricular heterotopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007165
20 simplified gyral pattern 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009879
21 subcortical heterotopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0032391
22 lissencephaly 58 Frequent (79-30%)
23 generalized tonic-clonic seizures without focal onset 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Microlissencephaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ASPM CDK5RAP2 CENPJ CEP152 KATNB1 KIF5C
2 embryo MP:0005380 9.56 CENPJ CEP152 KATNB1 NDE1 NDEL1 PAFAH1B1
3 cellular MP:0005384 9.53 ASPM CDK5RAP2 CENPJ CEP152 KATNB1 KIF5C

Drugs & Therapeutics for Microlissencephaly

Search Clinical Trials, NIH Clinical Center for Microlissencephaly

Genetic Tests for Microlissencephaly

Genetic tests related to Microlissencephaly:

# Genetic test Affiliating Genes
1 Microlissencephaly 28

Anatomical Context for Microlissencephaly

Organs/tissues related to Microlissencephaly:

MalaCards : Brain, Cortex, Fetal Brain, Eye

Publications for Microlissencephaly

Articles related to Microlissencephaly:

(show all 45)
# Title Authors PMID Year
1
Tubulin mutations in human neurodevelopmental disorders. 62
35915025 2023
2
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita. 62
35686685 2022
3
Neurological outcome in WDR62 primary microcephaly. 62
35726608 2022
4
Magnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review. 62
34896352 2022
5
NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly. 62
34562061 2022
6
A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia. 62
33996189 2021
7
Two different prenatal imaging cerebral patterns of tubulinopathy. 62
32149430 2021
8
Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly. 62
33161247 2020
9
[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development]. 62
33026328 2020
10
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. 62
31859376 2020
11
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 62
31770597 2020
12
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. 62
31586943 2020
13
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 62
30637988 2019
14
Tubulin genes and malformations of cortical development. 62
30016746 2018
15
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. 62
28969387 2017
16
Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI. 62
28670168 2017
17
Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics. 62
28079116 2017
18
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. 62
27453579 2016
19
[Neu-Laxova syndrome: Three case reports and a review of the literature]. 62
27475004 2016
20
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 62
26732629 2016
21
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 62
26599961 2016
22
TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation. 62
26294046 2015
23
Rare ACTG1 variants in fetal microlissencephaly. 62
26188271 2015
24
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. 62
25927602 2015
25
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype. 62
25755095 2015
26
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. 62
26052266 2015
27
Katanin p80 regulates human cortical development by limiting centriole and cilia number. 62
25521379 2014
28
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? 62
24842779 2014
29
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 62
25059107 2014
30
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 62
24860126 2014
31
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. 62
22526350 2012
32
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. 62
21496009 2011
33
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. 62
21529751 2011
34
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 62
21529752 2011
35
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. 62
20857301 2011
36
Lissencephalic syndromes: brain and beyond. 62
20036930 2010
37
[Genetic and clinical aspects of lissencephaly]. 62
17571022 2007
38
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. 62
15794192 2005
39
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. 62
12571786 2002
40
Microlissencephaly with cardiac, spinal and urogenital defects. 62
11446415 2001
41
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? 62
10514106 1999
42
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis. 62
10480209 1999
43
Microlissencephaly: a heterogeneous malformation of cortical development. 62
9706619 1998
44
Microlissencephaly. 62
9588537 1998
45
Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. 62
8971750 1996

Variations for Microlissencephaly

ClinVar genetic disease variations for Microlissencephaly:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR81 NM_001163809.2(WDR81):c.4668_4669del (p.Gly1557fs) DEL Pathogenic
635849 rs771116788 GRCh37: 17:1636999-1637000
GRCh38: 17:1733705-1733706

Expression for Microlissencephaly

Search GEO for disease gene expression data for Microlissencephaly.

Pathways for Microlissencephaly

Pathways related to Microlissencephaly according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1 13.73 WDR81 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
2
Show member pathways
13.64 WDR81 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
3
Show member pathways
13.36 CDK5RAP2 CENPJ CEP152 NDE1 NDEL1 PAFAH1B1
4
Show member pathways
13.29 PAFAH1B1 TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B
5
Show member pathways
13.19 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
6
Show member pathways
13.06 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
7
Show member pathways
13.06 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
8
Show member pathways
13.04 PAFAH1B1 TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B
9
Show member pathways
12.98 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
10
Show member pathways
12.85 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
11
Show member pathways
12.83 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8
12
Show member pathways
12.82 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
13
Show member pathways
12.72 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
14
Show member pathways
12.7 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
15
Show member pathways
12.67 TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B TUBB6
16
Show member pathways
12.55 TUBB6 TUBB2B TUBB2A TUBA8
17
Show member pathways
12.49 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
18
Show member pathways
12.41 TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B TUBB6
19
Show member pathways
12.38 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
20
Show member pathways
12.36 TUBB6 TUBB2B TUBB2A TUBA1A
21
Show member pathways
12.34 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
22
Show member pathways
12.32 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
23
Show member pathways
12.3 KIF5C PAFAH1B1 TUBA1A TUBA3E TUBA8 TUBB2A
24
Show member pathways
12.26 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
25
Show member pathways
12.21 TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B TUBB6
26
Show member pathways
12.13 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
27
Show member pathways
12.1 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
28 12.07 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8
29
Show member pathways
12.01 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E TUBA1A
30 11.61 TUBB6 TUBB2B TUBB2A TUBA1A
31 11.56 RELN PAFAH1B1 NDEL1
32 11.23 RELN PAFAH1B1 NDEL1

GO Terms for Microlissencephaly

Cellular components related to Microlissencephaly according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.62 ASPM CDK5RAP2 CENPJ CEP152 KATNB1 KIF5C
2 centrosome GO:0005813 10.3 ASPM CDK5RAP2 CENPJ CEP152 KATNB1 NDE1
3 centriole GO:0005814 10.18 CENPJ CEP152 STIL TUBG1 WDR62
4 mitotic spindle GO:0072686 10.14 TUBB2A TUBB2B TUBB6 WDR62
5 spindle pole GO:0000922 10.07 WDR62 KATNB1 CDK5RAP2 ASPM
6 spindle GO:0005819 10.07 ASPM KATNB1 NDE1 NDEL1 PAFAH1B1 TUBB6
7 kinesin complex GO:0005871 10.06 PAFAH1B1 NDEL1 NDE1 KIF5C
8 microtubule cytoskeleton GO:0015630 10.06 KATNB1 PAFAH1B1 TUBA1A TUBA3E TUBA8 TUBB2A
9 axon cytoplasm GO:1904115 10.04 PAFAH1B1 NDEL1 KIF5C
10 cytoplasmic microtubule GO:0005881 10.03 TUBG1 TUBA1A PAFAH1B1
11 cell leading edge GO:0031252 10.02 TUBG1 PAFAH1B1 NDEL1
12 pericentriolar material GO:0000242 9.97 TUBG1 CEP152 CDK5RAP2
13 microtubule organizing center GO:0005815 9.97 WDR62 TUBG1 PAFAH1B1 NDEL1 NDE1 KATNB1
14 cytoskeleton GO:0005856 9.93 ASPM CDK5RAP2 CENPJ CEP152 KATNB1 KIF5C
15 procentriole replication complex GO:0120099 9.91 STIL CEP152 CENPJ
16 central region of growth cone GO:0090724 9.81 PAFAH1B1 NDEL1
17 microtubule GO:0005874 9.77 ASPM CDK5RAP2 CENPJ KATNB1 KIF5C NDE1

Biological processes related to Microlissencephaly according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 10.25 TUBA1A PAFAH1B1 NDE1 KATNB1 CENPJ ASPM
2 mitotic cell cycle GO:0000278 10.17 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
3 neuron migration GO:0001764 10.1 ASPM NDE1 NDEL1 PAFAH1B1 RELN TUBA1A
4 mitotic spindle organization GO:0007052 10.09 STIL TUBG1 WDR62
5 establishment of mitotic spindle orientation GO:0000132 10.06 CDK5RAP2 NDE1 NDEL1 PAFAH1B1
6 modulation of chemical synaptic transmission GO:0050804 10.04 TUBB2B RELN PAFAH1B1
7 regulation of neuron differentiation GO:0045664 10.03 WDR62 RELN CDK5RAP2
8 microtubule nucleation GO:0007020 10.03 TUBG1 NDEL1 NDE1 CENPJ
9 centriole replication GO:0007099 10.01 WDR62 CEP152 CENPJ CDK5RAP2
10 neuroblast proliferation GO:0007405 9.97 PAFAH1B1 NDE1 ASPM
11 vesicle transport along microtubule GO:0047496 9.97 PAFAH1B1 NDEL1 NDE1
12 retrograde axonal transport GO:0008090 9.94 PAFAH1B1 NDEL1
13 regulation of centriole replication GO:0046599 9.93 STIL CENPJ
14 interneuron migration GO:1904936 9.93 RELN PAFAH1B1
15 cerebral cortex development GO:0021987 9.93 WDR62 TUBB2B TUBB2A TUBA1A RELN PAFAH1B1
16 microtubule cytoskeleton organization GO:0000226 9.93 CDK5RAP2 NDEL1 PAFAH1B1 TUBA1A TUBA3E TUBA8
17 forebrain development GO:0030900 9.92 STIL RELN NDE1
18 reelin-mediated signaling pathway GO:0038026 9.91 RELN PAFAH1B1
19 positive regulation of spindle assembly GO:1905832 9.91 STIL CENPJ
20 cytoskeleton organization GO:0007010 9.91 TUBB6 TUBB2B TUBA8 TUBA1A ASPM
21 centrosome duplication GO:0051298 9.91 CENPJ CEP152 NDE1 STIL
22 maintenance of centrosome location GO:0051661 9.9 PAFAH1B1 ASPM
23 mitotic centrosome separation GO:0007100 9.89 NDEL1 NDE1
24 positive regulation of centriole replication GO:0046601 9.88 CENPJ STIL
25 nuclear membrane disassembly GO:0051081 9.88 NDEL1 PAFAH1B1
26 microtubule organizing center organization GO:0031023 9.88 PAFAH1B1 NDE1 CDK5RAP2
27 radial glia-guided pyramidal neuron migration GO:0140650 9.84 NDEL1 PAFAH1B1
28 establishment of chromosome localization GO:0051303 9.83 NDEL1 NDE1
29 microtubule-based process GO:0007017 9.36 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E

Molecular functions related to Microlissencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.93 PAFAH1B1 NDEL1 NDE1 KIF5C KATNB1 CDK5RAP2
2 nucleotide binding GO:0000166 9.86 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E
3 GTP binding GO:0005525 9.8 TUBA1A TUBA3E TUBA8 TUBB2A TUBB2B TUBB6
4 structural constituent of cytoskeleton GO:0005200 9.47 TUBG1 TUBB6 TUBB2B TUBB2A TUBA8 TUBA3E

Sources for Microlissencephaly

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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