MCLMR
MCID: MCR216
MIFTS: 42

Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation (MCLMR)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

MalaCards integrated aliases for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

Name: Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 57 12 75 37 29 13 6 15 40
Lymphedema, Microcephaly and Chorioretinopathy Syndrome 12 53 44 73
Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome 12 53 73
Lymphedema and Retinal Folds with Microcephaly and Microphthalmos 57 75
Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome 57 12
Microcephaly Lymphedema Chorioretinal Dysplasia 12 53
Mlcrd Syndrome 57 75
Cdmmr Syndrome 57 75
Mclmr 57 75
Microcephaly and Chorioretinopathy with or Without Mental Retardation, Autosomal Dominant 57
Autosomal Dominant Microcephaly and Chorioretinopathy with or Without Mental Retardation 75
Lymphedema and Retinal Folds with Ficrocephaly and Microphthalmos 12
Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome 75
Lymphedema, Microcephaly, Chorioretinopathy Syndrome 57
Lymphedema Microcephaly Chorioretinopathy Syndrome 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
reduced penetrance
syndromic manifestations may be subtle in patients ascertained for ocular anomalies
progression of retinal atrophy (in some patients)


HPO:

32
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

OMIM : 57 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, 133780). Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016). Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see 251270). See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; 268050), which has been mapped to chromosome 8q21.3-q22.1. (152950)

MalaCards based summary : Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation, also known as lymphedema, microcephaly and chorioretinopathy syndrome, is related to microcephaly and chorioretinopathy, autosomal recessive, 1 and exudative vitreoretinopathy 1. An important gene associated with Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation is KIF11 (Kinesin Family Member 11), and among its related pathways/superpathways are MHC class II antigen presentation and Long-term depression. Affiliated tissues include eye, retina and skin, and related phenotypes are ptosis and nystagmus

Disease Ontology : 12 A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

UniProtKB/Swiss-Prot : 75 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation: An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes.

Related Diseases for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Graphical network of the top 20 diseases related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:



Diseases related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation

Symptoms & Phenotypes for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataract
corneal opacity
myopia
reduced visual acuity
more
Head And Neck Face:
long philtrum
prominent philtrum
sloping forehead (in some patients)
bulging forehead (rare)
prominent chin

Head And Neck Mouth:
thin upper lip
prominent, full lip (in some patients)

Neurologic Central Nervous System:
mental retardation, mild to moderate
normal intelligence (in some patients)
simplified gyral pattern
seizures (uncommon)

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder (uncommon)
agitation (rare)
aggression (rare)
sleep disturbances (rare)

Head And Neck Nose:
anteverted nares
flat, nasal bridge
broad, large nasal tip

Head And Neck Head:
flat occiput
microcephaly (-6 s.d.)

Head And Neck Ears:
prominent ears

Muscle Soft Tissue:
lymphedema, dorsa of feet
lymphedema, lower extremities
lymphedema, hands (rare)


Clinical features from OMIM:

152950

Human phenotypes related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

32 (show top 50) (show all 82)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 occasional (7.5%) HP:0000508
2 nystagmus 32 HP:0000639
3 intellectual disability 32 frequent (33%) HP:0001249
4 seizures 32 HP:0001250
5 muscular hypotonia 32 frequent (33%) HP:0001252
6 spasticity 32 occasional (7.5%) HP:0001257
7 sleep disturbance 32 occasional (7.5%) HP:0002360
8 mandibular prognathia 32 HP:0000303
9 cataract 32 occasional (7.5%) HP:0000518
10 global developmental delay 32 frequent (33%) HP:0001263
11 depressed nasal bridge 32 HP:0005280
12 corneal opacity 32 HP:0007957
13 wide nasal bridge 32 occasional (7.5%) HP:0000431
14 thick vermilion border 32 occasional (7.5%) HP:0012471
15 microcephaly 32 hallmark (90%) HP:0000252
16 anteverted nares 32 occasional (7.5%) HP:0000463
17 optic atrophy 32 occasional (7.5%) HP:0000648
18 abnormality of retinal pigmentation 32 frequent (33%) HP:0007703
19 blindness 32 occasional (7.5%) HP:0000618
20 retinopathy 32 occasional (7.5%) HP:0000488
21 intellectual disability, mild 32 HP:0001256
22 subcutaneous nodule 32 occasional (7.5%) HP:0001482
23 prominent forehead 32 occasional (7.5%) HP:0011220
24 full cheeks 32 occasional (7.5%) HP:0000293
25 long philtrum 32 occasional (7.5%) HP:0000343
26 scaling skin 32 occasional (7.5%) HP:0040189
27 thick lower lip vermilion 32 HP:0000179
28 epicanthus 32 occasional (7.5%) HP:0000286
29 dry skin 32 occasional (7.5%) HP:0000958
30 attention deficit hyperactivity disorder 32 HP:0007018
31 lymphedema 32 hallmark (90%) HP:0001004
32 specific learning disability 32 frequent (33%) HP:0001328
33 myopia 32 occasional (7.5%) HP:0000545
34 atrial septal defect 32 occasional (7.5%) HP:0001631
35 reduced visual acuity 32 HP:0007663
36 venous thrombosis 32 occasional (7.5%) HP:0004936
37 skin ulcer 32 occasional (7.5%) HP:0200042
38 protruding ear 32 occasional (7.5%) HP:0000411
39 muscle stiffness 32 occasional (7.5%) HP:0003552
40 rigidity 32 occasional (7.5%) HP:0002063
41 microphthalmia 32 occasional (7.5%) HP:0000568
42 aggressive behavior 32 occasional (7.5%) HP:0000718
43 status epilepticus 32 occasional (7.5%) HP:0002133
44 glaucoma 32 occasional (7.5%) HP:0000501
45 retinal detachment 32 occasional (7.5%) HP:0000541
46 visual loss 32 occasional (7.5%) HP:0000572
47 downslanted palpebral fissures 32 HP:0000494
48 agitation 32 occasional (7.5%) HP:0000713
49 upslanted palpebral fissure 32 occasional (7.5%) HP:0000582
50 retinal dysplasia 32 occasional (7.5%) HP:0007973

GenomeRNAi Phenotypes related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Mitotic arrest, spindle defect GR00097-A 8.62 ITPR1 KIF11

Drugs & Therapeutics for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Search Clinical Trials , NIH Clinical Center for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation

Cochrane evidence based reviews: lymphedema, microcephaly and chorioretinopathy syndrome

Genetic Tests for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Genetic tests related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

# Genetic test Affiliating Genes
1 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 29 KIF11

Anatomical Context for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

MalaCards organs/tissues related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

41
Eye, Retina, Skin

Publications for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Articles related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

# Title Authors Year
1
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. ( 25934493 )
2015

Variations for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

75
# Symbol AA change Variation ID SNP ID
1 KIF11 p.Phe144Leu VAR_067829
2 KIF11 p.Arg234Cys VAR_067830
3 KIF11 p.Ser235Cys VAR_067831 rs387906643
4 KIF11 p.Arg944Cys VAR_067832 rs387906642

ClinVar genetic disease variations for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:

6 (show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF11 NM_004523.3(KIF11): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs387906641 GRCh37 Chromosome 10, 94381172: 94381172
2 KIF11 NM_004523.3(KIF11): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs387906641 GRCh38 Chromosome 10, 92621415: 92621415
3 KIF11 NM_004523.3(KIF11): c.1039_1040delCT (p.Leu347Glufs) deletion Pathogenic rs730882061 GRCh38 Chromosome 10, 92616743: 92616744
4 KIF11 NM_004523.3(KIF11): c.1039_1040delCT (p.Leu347Glufs) deletion Pathogenic rs730882061 GRCh37 Chromosome 10, 94376500: 94376501
5 KIF11 NM_004523.3(KIF11): c.2830C> T (p.Arg944Cys) single nucleotide variant Uncertain significance rs387906642 GRCh37 Chromosome 10, 94409651: 94409651
6 KIF11 NM_004523.3(KIF11): c.2830C> T (p.Arg944Cys) single nucleotide variant Uncertain significance rs387906642 GRCh38 Chromosome 10, 92649894: 92649894
7 KIF11 NM_004523.3(KIF11): c.1592delA (p.Gln531Argfs) deletion Pathogenic rs730882062 GRCh37 Chromosome 10, 94392340: 94392340
8 KIF11 NM_004523.3(KIF11): c.1592delA (p.Gln531Argfs) deletion Pathogenic rs730882062 GRCh38 Chromosome 10, 92632583: 92632583
9 KIF11 NM_004523.3(KIF11): c.2547+2T> C single nucleotide variant Pathogenic rs730882063 GRCh37 Chromosome 10, 94405401: 94405401
10 KIF11 NM_004523.3(KIF11): c.2547+2T> C single nucleotide variant Pathogenic rs730882063 GRCh38 Chromosome 10, 92645644: 92645644
11 KIF11 NM_004523.3(KIF11): c.704C> G (p.Ser235Cys) single nucleotide variant Pathogenic rs387906643 GRCh37 Chromosome 10, 94372802: 94372802
12 KIF11 NM_004523.3(KIF11): c.704C> G (p.Ser235Cys) single nucleotide variant Pathogenic rs387906643 GRCh38 Chromosome 10, 92613045: 92613045
13 KIF11 NM_004523.3(KIF11): c.2300_2301delTT (p.Phe767Serfs) deletion Pathogenic rs730882121 GRCh37 Chromosome 10, 94405152: 94405153
14 KIF11 NM_004523.3(KIF11): c.2300_2301delTT (p.Phe767Serfs) deletion Pathogenic rs730882121 GRCh38 Chromosome 10, 92645395: 92645396
15 KIF11 NM_004523.3(KIF11): c.790-1G> A single nucleotide variant Pathogenic rs730882122 GRCh37 Chromosome 10, 94373133: 94373133
16 KIF11 NM_004523.3(KIF11): c.790-1G> A single nucleotide variant Pathogenic rs730882122 GRCh38 Chromosome 10, 92613376: 92613376
17 KIF11 NM_004523.3(KIF11): c.1408G> T (p.Glu470Ter) single nucleotide variant Pathogenic rs786205900 GRCh37 Chromosome 10, 94390035: 94390035
18 KIF11 NM_004523.3(KIF11): c.1408G> T (p.Glu470Ter) single nucleotide variant Pathogenic rs786205900 GRCh38 Chromosome 10, 92630278: 92630278
19 KIF11 NM_004523.3(KIF11): c.790-1G> T single nucleotide variant Pathogenic rs730882122 GRCh37 Chromosome 10, 94373133: 94373133
20 KIF11 NM_004523.3(KIF11): c.790-1G> T single nucleotide variant Pathogenic rs730882122 GRCh38 Chromosome 10, 92613376: 92613376
21 KIF11 NM_004523.3(KIF11): c.-1_2delCATinsAA indel Pathogenic rs797045649 GRCh38 Chromosome 10, 92593375: 92593377
22 KIF11 NM_004523.3(KIF11): c.-1_2delCATinsAA indel Pathogenic rs797045649 GRCh37 Chromosome 10, 94353132: 94353134
23 KIF11 NM_004523.3(KIF11): c.436A> T (p.Lys146Ter) single nucleotide variant Pathogenic rs797045650 GRCh37 Chromosome 10, 94368825: 94368825
24 KIF11 NM_004523.3(KIF11): c.436A> T (p.Lys146Ter) single nucleotide variant Pathogenic rs797045650 GRCh38 Chromosome 10, 92609068: 92609068
25 KIF11 NM_004523.3(KIF11): c.699-7_705del deletion Pathogenic rs797045651 GRCh37 Chromosome 10, 94372790: 94372803
26 KIF11 NM_004523.3(KIF11): c.699-7_705del deletion Pathogenic rs797045651 GRCh38 Chromosome 10, 92613033: 92613046
27 KIF11 NM_004523.3(KIF11): c.2153A> T (p.His718Leu) single nucleotide variant Benign rs116942055 GRCh38 Chromosome 10, 92637538: 92637538
28 KIF11 NM_004523.3(KIF11): c.2153A> T (p.His718Leu) single nucleotide variant Benign rs116942055 GRCh37 Chromosome 10, 94397295: 94397295
29 KIF11 NM_004523.3(KIF11): c.2341C> T (p.Gln781Ter) single nucleotide variant Pathogenic rs1057516208 GRCh37 Chromosome 10, 94405193: 94405193
30 KIF11 NM_004523.3(KIF11): c.2341C> T (p.Gln781Ter) single nucleotide variant Pathogenic rs1057516208 GRCh38 Chromosome 10, 92645436: 92645436
31 KIF11 NM_004523.3(KIF11): c.247C> T (p.Arg83Ter) single nucleotide variant Pathogenic rs1064796738 GRCh37 Chromosome 10, 94366412: 94366412
32 KIF11 NM_004523.3(KIF11): c.247C> T (p.Arg83Ter) single nucleotide variant Pathogenic rs1064796738 GRCh38 Chromosome 10, 92606655: 92606655
33 KIF11 NM_004523.3(KIF11): c.112delC (p.His38Ilefs) deletion Pathogenic GRCh37 Chromosome 10, 94366056: 94366056
34 KIF11 NM_004523.3(KIF11): c.112delC (p.His38Ilefs) deletion Pathogenic GRCh38 Chromosome 10, 92606299: 92606299
35 KIF11 NM_004523.3(KIF11): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 92613455: 92613455
36 KIF11 NM_004523.3(KIF11): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 94373212: 94373212
37 KIF11 NM_004523.3(KIF11): c.1677G> A (p.Met559Ile) single nucleotide variant Uncertain significance rs750869480 GRCh38 Chromosome 10, 92632668: 92632668
38 KIF11 NM_004523.3(KIF11): c.1677G> A (p.Met559Ile) single nucleotide variant Uncertain significance rs750869480 GRCh37 Chromosome 10, 94392425: 94392425
39 KIF11 NM_004523.3(KIF11): c.2059delC (p.His687Metfs) deletion Likely pathogenic GRCh38 Chromosome 10, 92637444: 92637444
40 KIF11 NM_004523.3(KIF11): c.2059delC (p.His687Metfs) deletion Likely pathogenic GRCh37 Chromosome 10, 94397201: 94397201
41 KIF11 NM_004523.3(KIF11): c.2160+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 10, 92637546: 92637546
42 KIF11 NM_004523.3(KIF11): c.2160+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 10, 94397303: 94397303
43 KIF11 NM_004523.3(KIF11): c.2548-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 10, 92648211: 92648211
44 KIF11 NM_004523.3(KIF11): c.2548-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 10, 94407968: 94407968
45 KIF11 NM_004523.3(KIF11): c.2922G> A (p.Pro974=) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 10, 94409743: 94409743
46 KIF11 NM_004523.3(KIF11): c.2922G> A (p.Pro974=) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 10, 92649986: 92649986
47 KIF11 NM_004523.3(KIF11): c.2230C> T (p.Gln744Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 92639863: 92639863
48 KIF11 NM_004523.3(KIF11): c.2230C> T (p.Gln744Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 94399620: 94399620
49 KIF11 NM_004523.3(KIF11): c.2971_2972insT (p.Ser992Lysfs) insertion Likely pathogenic GRCh37 Chromosome 10, 94410206: 94410207
50 KIF11 NM_004523.3(KIF11): c.2971_2972insT (p.Ser992Lysfs) insertion Likely pathogenic GRCh38 Chromosome 10, 92650449: 92650450

Expression for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Search GEO for disease gene expression data for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation.

Pathways for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Pathways related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.97 KIF11 SPTBN2
2 10.4 CACNA1A ITPR1

GO Terms for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

Cellular components related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.5 APTX CACNA1A ITPR1 KIF11 KIF1A SETX
2 neuronal cell body GO:0043025 9.43 CACNA1A KIF1A SPTBN2
3 kinesin complex GO:0005871 9.16 KIF11 KIF1A
4 presynapse GO:0098793 8.8 CACNA1A KIF1A SPTBN2

Biological processes related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.32 KIF11 SPTBN2
2 microtubule-based movement GO:0007018 9.26 KIF11 KIF1A
3 regulation of insulin secretion GO:0050796 9.16 CACNA1A ITPR1
4 double-strand break repair GO:0006302 8.96 APTX SETX
5 synapse assembly GO:0007416 8.62 CACNA1A SPTBN2

Molecular functions related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.16 CACNA1A ITPR1
2 microtubule motor activity GO:0003777 8.96 KIF11 KIF1A
3 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.62 KIF11 KIF1A

Sources for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...

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
Content
Loading form....