MCID: MGL030
MIFTS: 42

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1

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

Aliases & Classifications for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

MalaCards integrated aliases for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

Name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 57 75 29 6 73
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 24 53 25 75 13 40
Mpph Syndrome 24 53 25 59
Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome 24 25 29
Mpph 57 25 75
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome 53 59
Meg-Pmg-Megacc Syndrome 57 75
Mpph1 57 75
Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus 53
Megalencephaly, Mega Corpus Callosum, and Complete Lack of Motor Development 57
Megalencephaly Mega Corpus Callosum and Complete Lack of Motor Development 75
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Type 1 40
Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome; Mpph 57
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 73
Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome 57
Megalencephaly, Polymicrogyria, and Hydrocephalus Syndrome 53
Megalencephaly-Polymicrogyria-Mega Corpus Callosum Syndrome 75
Meg-Pmg-Poly-Hyd 25

Characteristics:

Orphanet epidemiological data:

59
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Although penetrance for mpph syndrome is expected to be high, to date it cannot be definitively determined to be 100% due to the identification of low-level mosaic somatic pik3r2 pathogenic variants in individuals who have only one of the core features (i.e., bilateral perisylvian polymicrogyria) [mirzaa et al 2015]...

Classifications:



Summaries for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Genetics Home Reference : 25 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare disorder that primarily affects the development of the brain. Affected individuals are born with an unusually large brain and head size (megalencephaly). The head and brain continue to grow rapidly during the first 2 years of life. MPPH syndrome is also associated with a brain abnormality called bilateral perisylvian polymicrogyria (BPP). The surface of the brain normally has many ridges or folds, called gyri. In people with BPP, an area of the brain called the perisylvian region develops too many gyri, and the folds are irregular and unusually small. Other brain abnormalities, including a buildup of fluid in the brain (hydrocephalus), have also been reported in people with MPPH syndrome.

MalaCards based summary : Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1, also known as megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, is related to megalencephaly and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, and has symptoms including seizures An important gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 is PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2), and among its related pathways/superpathways are Akt Signaling and PI3K-Akt signaling pathway. Affiliated tissues include brain, testes and kidney, and related phenotypes are macrocephaly and hypertelorism

NIH Rare Diseases : 53 MPPH syndrome is a disorder characterized by the presence of multiple birth defects and developmental delay. Classic signs and symptoms include polymicrogyria, megalencephaly, seizures, polydactyly, and hydrocephalus. Other features might include characteristic facial features, low muscle tone (hypotonia), and impaired vision. Mutations in at least three different genes have been identified that cause MPPH including PIK3R2, AKT3, and CCND2. Most cases of MPPH syndrome are new (de novo) in families with no prior history. The diagnosis of MPPH syndrome is based on physical examination, imaging studies, and genetic testing. Treatment is based on the signs and symptoms present in each person.

OMIM : 57 This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP; 602501) (summary by Gripp et al., 2009). (603387)

UniProtKB/Swiss-Prot : 75 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1: A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly- capillary malformation syndrome.

GeneReviews: NBK396098

Related Diseases for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Graphical network of the top 20 diseases related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:



Diseases related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1

Symptoms & Phenotypes for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
hydrocephalus
seizures
megalencephaly
polymicrogyria
developmental delay
more
Head And Neck Eyes:
blindness
large eyes
wide palpebral fissures
eyelid ptosis
pale optic nerves

Skeletal Hands:
postaxial polydactyly

Head And Neck Mouth:
tent-shaped mouth
prominent philtral groove
submucous cleft palate (rare)

Head And Neck Nose:
low bridge

Skeletal Limbs:
flexion contractures at both knees

Neoplasia:
increased risk of medulloblastoma (rare)

Head And Neck Face:
frontal bossing

Skeletal Spine:
kyphosis
s-scoliosis of thoracic spine

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
vascular ring
mitral regurgitation, mild

Muscle Soft Tissue:
muscle atrophy

Growth Height:
small birth length

Genitourinary Kidneys:
duplicated kidneys (rare)

Neurologic Behavioral Psychiatric Manifestations:
asperger-like features


Clinical features from OMIM:

603387

Human phenotypes related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 megalencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001355
6 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
7 abnormal nasal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005105
8 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
9 mitral regurgitation 59 32 frequent (33%) Frequent (79-30%) HP:0001653
10 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
11 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
12 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
13 polymicrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002126
14 abnormal localization of kidney 59 32 frequent (33%) Frequent (79-30%) HP:0100542
15 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
16 frontal bossing 32 HP:0002007
17 ptosis 32 HP:0000508
18 kyphosis 32 HP:0002808
19 global developmental delay 32 HP:0001263
20 blindness 32 HP:0000618
21 skeletal muscle atrophy 32 HP:0003202
22 atrial septal defect 32 HP:0001631
23 intellectual disability, profound 32 HP:0002187
24 abnormality of the cardiac septa 59 Frequent (79-30%)
25 long palpebral fissure 32 HP:0000637
26 pachygyria 32 HP:0001302
27 hypoplasia of the corpus callosum 32 HP:0002079
28 knee flexion contracture 32 HP:0006380
29 muscular hypotonia of the trunk 32 HP:0008936
30 thoracic scoliosis 32 HP:0002943
31 postaxial polydactyly 32 HP:0100259
32 thick corpus callosum 32 HP:0007074
33 vascular ring 32 HP:0010775
34 abnormally large globe 32 HP:0001090

UMLS symptoms related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:


seizures

GenomeRNAi Phenotypes related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.4 PIK3R2
2 Decreased viability GR00221-A-1 9.4 PIK3R2 AKT3
3 Decreased viability GR00221-A-2 9.4 PIK3R2 AKT3
4 Decreased viability GR00221-A-3 9.4 AKT3
5 Decreased viability GR00221-A-4 9.4 PIK3R2 AKT3
6 Decreased viability GR00301-A 9.4 PIK3R2 AKT3
7 Decreased viability GR00402-S-2 9.4 AKT3 PIK3R2

Drugs & Therapeutics for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Search Clinical Trials , NIH Clinical Center for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1

Genetic Tests for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Genetic tests related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

# Genetic test Affiliating Genes
1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 29 PIK3R2
2 Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome 29

Anatomical Context for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

MalaCards organs/tissues related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

41
Brain, Testes, Kidney, Eye, Skeletal Muscle

Publications for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Articles related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

# Title Authors Year
1
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. ( 24705253 )
2014
2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report. ( 22859694 )
2013
3
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. ( 19353582 )
2009

Variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

UniProtKB/Swiss-Prot genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 PIK3R2 p.Gly373Arg VAR_069262 rs587776934
2 PIK3R2 p.Leu401Pro VAR_075683 rs587777624
3 PIK3R2 p.Asp557His VAR_075684 rs372272045

ClinVar genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3R2 NM_005027.3(PIK3R2): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic rs587776934 GRCh38 Chromosome 19, 18162974: 18162974
2 PIK3R2 NM_005027.3(PIK3R2): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic rs587776934 GRCh37 Chromosome 19, 18273784: 18273784
3 PIK3R2 NM_005027.3(PIK3R2): c.1202T> C (p.Leu401Pro) single nucleotide variant Pathogenic rs587777624 GRCh38 Chromosome 19, 18163059: 18163059
4 PIK3R2 NM_005027.3(PIK3R2): c.1202T> C (p.Leu401Pro) single nucleotide variant Pathogenic rs587777624 GRCh37 Chromosome 19, 18273869: 18273869
5 PIK3R2 NM_005027.3(PIK3R2): c.451C> T (p.Pro151Ser) single nucleotide variant Benign rs143873873 GRCh37 Chromosome 19, 18271764: 18271764
6 PIK3R2 NM_005027.3(PIK3R2): c.451C> T (p.Pro151Ser) single nucleotide variant Benign rs143873873 GRCh38 Chromosome 19, 18160954: 18160954
7 PIK3R2 NM_005027.3(PIK3R2): c.160G> A (p.Val54Met) single nucleotide variant Benign rs201370957 GRCh37 Chromosome 19, 18266849: 18266849
8 PIK3R2 NM_005027.3(PIK3R2): c.160G> A (p.Val54Met) single nucleotide variant Benign rs201370957 GRCh38 Chromosome 19, 18156039: 18156039
9 PIK3R2 NM_005027.3(PIK3R2): c.700C> A (p.Arg234Ser) single nucleotide variant Benign rs2241088 GRCh38 Chromosome 19, 18161380: 18161380
10 PIK3R2 NM_005027.3(PIK3R2): c.700C> A (p.Arg234Ser) single nucleotide variant Benign rs2241088 GRCh37 Chromosome 19, 18272190: 18272190
11 PIK3R2 NM_005027.3(PIK3R2): c.1643C> T (p.Ala548Val) single nucleotide variant Benign rs10413655 GRCh38 Chromosome 19, 18167213: 18167213
12 PIK3R2 NM_005027.3(PIK3R2): c.1643C> T (p.Ala548Val) single nucleotide variant Benign rs10413655 GRCh37 Chromosome 19, 18278023: 18278023
13 PIK3R2 NM_005027.3(PIK3R2): c.2037C> T (p.Phe679=) single nucleotide variant Likely benign rs112163556 GRCh38 Chromosome 19, 18169144: 18169144
14 PIK3R2 NM_005027.3(PIK3R2): c.2037C> T (p.Phe679=) single nucleotide variant Likely benign rs112163556 GRCh37 Chromosome 19, 18279954: 18279954
15 PIK3R2 NM_005027.3(PIK3R2): c.2080C> T (p.Leu694=) single nucleotide variant Benign rs116321373 GRCh37 Chromosome 19, 18279997: 18279997
16 PIK3R2 NM_005027.3(PIK3R2): c.2080C> T (p.Leu694=) single nucleotide variant Benign rs116321373 GRCh38 Chromosome 19, 18169187: 18169187
17 PIK3R2 NM_005027.3(PIK3R2): c.2163C> T (p.Pro721=) single nucleotide variant Benign rs147625988 GRCh37 Chromosome 19, 18280080: 18280080
18 PIK3R2 NM_005027.3(PIK3R2): c.2163C> T (p.Pro721=) single nucleotide variant Benign rs147625988 GRCh38 Chromosome 19, 18169270: 18169270
19 PIK3R2 NM_005027.3(PIK3R2): c.903G> A (p.Ala301=) single nucleotide variant Benign rs28730848 GRCh37 Chromosome 19, 18273013: 18273013
20 PIK3R2 NM_005027.3(PIK3R2): c.903G> A (p.Ala301=) single nucleotide variant Benign rs28730848 GRCh38 Chromosome 19, 18162203: 18162203
21 PIK3R2 NM_005027.3(PIK3R2): c.937C> T (p.Pro313Ser) single nucleotide variant Benign rs1011320 GRCh37 Chromosome 19, 18273047: 18273047
22 PIK3R2 NM_005027.3(PIK3R2): c.937C> T (p.Pro313Ser) single nucleotide variant Benign rs1011320 GRCh38 Chromosome 19, 18162237: 18162237
23 PIK3R2 NM_005027.3(PIK3R2): c.2179G> A (p.Ala727Thr) single nucleotide variant Benign rs149081991 GRCh38 Chromosome 19, 18169286: 18169286
24 PIK3R2 NM_005027.3(PIK3R2): c.2179G> A (p.Ala727Thr) single nucleotide variant Benign rs149081991 GRCh37 Chromosome 19, 18280096: 18280096
25 PIK3R2 NM_005027.3(PIK3R2): c.291C> T (p.Pro97=) single nucleotide variant Benign rs201655779 GRCh37 Chromosome 19, 18266980: 18266980
26 PIK3R2 NM_005027.3(PIK3R2): c.291C> T (p.Pro97=) single nucleotide variant Benign rs201655779 GRCh38 Chromosome 19, 18156170: 18156170
27 PIK3R2 NM_005027.3(PIK3R2): c.1543G> A (p.Glu515Lys) single nucleotide variant Uncertain significance rs765672206 GRCh37 Chromosome 19, 18277096: 18277096
28 PIK3R2 NM_005027.3(PIK3R2): c.1543G> A (p.Glu515Lys) single nucleotide variant Uncertain significance rs765672206 GRCh38 Chromosome 19, 18166286: 18166286
29 PIK3R2 NM_005027.3(PIK3R2): c.1845G> T (p.Pro615=) single nucleotide variant Likely benign rs201568661 GRCh38 Chromosome 19, 18168762: 18168762
30 PIK3R2 NM_005027.3(PIK3R2): c.1845G> T (p.Pro615=) single nucleotide variant Likely benign rs201568661 GRCh37 Chromosome 19, 18279572: 18279572
31 PIK3R2 NM_005027.3(PIK3R2): c.1911T> C (p.Ser637=) single nucleotide variant Benign rs273269 GRCh37 Chromosome 19, 18279638: 18279638
32 PIK3R2 NM_005027.3(PIK3R2): c.1911T> C (p.Ser637=) single nucleotide variant Benign rs273269 GRCh38 Chromosome 19, 18168828: 18168828
33 PIK3R2 NM_005027.3(PIK3R2): c.2127C> T (p.Thr709=) single nucleotide variant Benign rs112813367 GRCh38 Chromosome 19, 18169234: 18169234
34 PIK3R2 NM_005027.3(PIK3R2): c.2127C> T (p.Thr709=) single nucleotide variant Benign rs112813367 GRCh37 Chromosome 19, 18280044: 18280044
35 PIK3R2 NM_005027.3(PIK3R2): c.721C> A (p.Pro241Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 18272211: 18272211
36 PIK3R2 NM_005027.3(PIK3R2): c.721C> A (p.Pro241Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 18161401: 18161401
37 PIK3R2 NM_005027.3(PIK3R2): c.696G> A (p.Val232=) single nucleotide variant Likely benign rs571661207 GRCh38 Chromosome 19, 18161376: 18161376
38 PIK3R2 NM_005027.3(PIK3R2): c.696G> A (p.Val232=) single nucleotide variant Likely benign rs571661207 GRCh37 Chromosome 19, 18272186: 18272186

Expression for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Search GEO for disease gene expression data for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1.

Pathways for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Pathways related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 AKT3 CCND2 PIK3R2
2
Show member pathways
12.56 AKT3 CCND2 PIK3R2
3
Show member pathways
12.47 AKT3 CCND2 PIK3R2
4 12.41 AKT3 CCND2 PIK3R2
5
Show member pathways
12.34 AKT3 CCND2 PIK3R2
6
Show member pathways
12.3 AKT3 CCND2 PIK3R2
7
Show member pathways
12.18 AKT3 CCND2 PIK3R2
8
Show member pathways
12.13 AKT3 PIK3R2
9
Show member pathways
12.12 AKT3 PIK3R2
10
Show member pathways
12.11 AKT3 PIK3R2
11
Show member pathways
12.08 AKT3 PIK3R2
12
Show member pathways
12.06 AKT3 PIK3R2
13
Show member pathways
12.05 AKT3 PIK3R2
14
Show member pathways
12.04 AKT3 PIK3R2
15
Show member pathways
12.03 AKT3 PIK3R2
16 12.03 AKT3 PIK3R2
17 12.02 AKT3 PIK3R2
18 12.02 CCND2 PIK3R2
19
Show member pathways
12 AKT3 CCND2 PIK3R2
20
Show member pathways
11.95 AKT3 PIK3R2
21
Show member pathways
11.95 AKT3 PIK3R2
22
Show member pathways
11.95 AKT3 PIK3R2
23 11.92 CCND2 PIK3R2
24
Show member pathways
11.91 AKT3 PIK3R2
25 11.9 AKT3 CCND2 PIK3R2
26 11.89 AKT3 PIK3R2
27
Show member pathways
11.89 AKT3 PIK3R2
28
Show member pathways
11.88 AKT3 PIK3R2
29
Show member pathways
11.88 AKT3 PIK3R2
30
Show member pathways
11.87 AKT3 PIK3R2
31
Show member pathways
11.86 AKT3 PIK3R2
32 11.83 AKT3 PIK3R2
33 11.83 AKT3 PIK3R2
34
Show member pathways
11.81 CCND2 PIK3R2
35 11.8 AKT3 PIK3R2
36 11.79 AKT3 PIK3R2
37 11.78 AKT3 PIK3R2
38
Show member pathways
11.76 AKT3 PIK3R2
39 11.76 AKT3 PIK3R2
40 11.75 AKT3 PIK3R2
41
Show member pathways
11.74 AKT3 PIK3R2
42 11.73 AKT3 PIK3R2
43 11.72 AKT3 PIK3R2
44
Show member pathways
11.7 AKT3 PIK3R2
45 11.69 AKT3 PIK3R2
46
Show member pathways
11.68 AKT3 PIK3R2
47 11.67 AKT3 PIK3R2
48 11.64 AKT3 PIK3R2
49 11.64 AKT3 CCND2 PIK3R2
50 11.63 AKT3 PIK3R2

GO Terms for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Sources for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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