CMDHH
MCID: CRD229
MIFTS: 49

Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism (CMDHH)

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

MalaCards integrated aliases for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

Name: Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 57 72
Malouf Syndrome 57 12 73 20 58 72 13 44 70
Najjar Syndrome 57 12 20 58 72 54 44 70
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome 12 20 58 29 6 15
Cardiogenital Syndrome 57 12 20 58 72
Genital Anomaly with Cardiomyopathy 57 12 20 72
Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism 12 20
Cardiomyopathy with Primary Testicular Failure 57 72
Cardiomyopathy, Congestive, with Hypergonadotropic Hypogonadism 57
Congestive Cardiomyopathy with Hypergonadotropic Hypogonadism 12
Cardiomyopathy Congestive with Hypergonadotropic Hypogonadism 72
Cardiomyopathy, Dilated, with Premature Ovarian Failure 57
Dilated Cardiomyopathy with Premature Ovarian Failure 12
Cardiomyopathy Dilated with Premature Ovarian Failure 72
Cardiomyopathy Eith Primary Testicular Failure 12
Cmdhh 72

Characteristics:

Orphanet epidemiological data:

58
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, dilated, with hypergonadotropic hypogonadism:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0111584
OMIM® 57 212112
SNOMED-CT 67 719451006
ICD10 via Orphanet 33 I42.0
UMLS via Orphanet 71 C0796031 C0796083
Orphanet 58 ORPHA2229
UMLS 70 C0796031 C0796083

Summaries for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

GARD : 20 Dilated cardiomyopathy with hypergonadotropic hypogonadism (DCMHH) is a condition that primarily affects the heart and gonads (male testes or female ovaries). It is characterized by a disease of the heart muscle ( dilated cardiomyopathy ) and little or no production of sex hormones due to a problem with the pituitary gland or hypothalamus ( hypergonadotropic hypogonadism ). Other symptoms might include: characteristic facial features, intellectual disability, mild skeletal anomalies, and abnormalities of the metabolic system. Some cases of DCMHH are caused by mutations in the LMNA gene. Both autosomal dominant and autosomal recessive inheritance patterns have been described. Although there is no specific treatment or cure for DCMHH, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism, also known as malouf syndrome, is related to crigler-najjar syndrome, type i and crigler-najjar syndrome, type ii. An important gene associated with Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism is LMNA (Lamin A/C), and among its related pathways/superpathways are Glucose / Energy Metabolism and Biosynthesis of cofactors. The drugs Diazepam and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and hypothalamus, and related phenotypes are ptosis and precocious puberty

Disease Ontology : 12 A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has material basis in heterozygous mutation in LMNA on chromosome 1q22.

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated, with hypergonadotropic hypogonadism: A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including mental retardation, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.

Wikipedia : 73 Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a... more...

More information from OMIM: 212112

Related Diseases for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Diseases related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type i 32.9 UGT1A8 UGT1A6 UGT1A1
2 crigler-najjar syndrome, type ii 32.7 UGT1A8 UGT1A6 UGT1A1
3 gilbert syndrome 32.0 UGT1A8 UGT1A6 UGT1A1
4 hutchinson-gilford progeria syndrome 31.6 ZMPSTE24 SYNE2 LMNA ERCC6
5 bilirubin metabolic disorder 31.1 UGT1A8 UGT1A6 UGT1A1
6 kernicterus 30.9 UGT1A8 UGT1A6 UGT1A1
7 bilirubin, serum level of, quantitative trait locus 1 30.0 UGT1A8 UGT1A6 UGT1A1
8 hyperbilirubinemia, transient familial neonatal 29.9 UGT1A8 UGT1A6 UGT1A1
9 inherited metabolic disorder 29.7 UGT1A8 UGT1A6 UGT1A1
10 hereditary spherocytosis 29.7 UGT1A8 UGT1A6 UGT1A1
11 seow najjar syndrome 11.2
12 autosomal recessive disease 10.4
13 ptosis 10.2
14 dilated cardiomyopathy 10.2
15 mandibuloacral dysplasia with type a lipodystrophy 10.2 ZMPSTE24 LMNA
16 acroosteolysis 10.2 ZMPSTE24 LMNA
17 acquired generalized lipodystrophy 10.2 ZMPSTE24 LMNA
18 cholestasis 10.2
19 spasticity 10.2
20 reynolds syndrome 10.2 ZMPSTE24 LMNA
21 complete generalized lipodystrophy 10.2 ZMPSTE24 LMNA
22 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2 ZMPSTE24 LMNA
23 epicardium cancer 10.2 UGT1A8 UGT1A1
24 restrictive dermopathy, lethal 10.1 ZMPSTE24 LMNA
25 blood group incompatibility 10.1 UGT1A8 UGT1A1
26 atrial standstill 1 10.1
27 46 xx gonadal dysgenesis 10.1
28 hypogonadism 10.1
29 hemophilia 10.1
30 congenital nonhemolytic jaundice 10.1
31 lipodystrophy, familial partial, type 5 10.1 ZMPSTE24 LMNA
32 acetaminophen metabolism 10.1 UGT1A6 UGT1A1
33 porphyria 10.1
34 x-linked emery-dreifuss muscular dystrophy 10.1 SYNE2 LMNA
35 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.1 SYNE2 LMNA
36 skin atrophy 10.0 ZMPSTE24 LMNA ERCC6
37 emery-dreifuss muscular dystrophy 4, autosomal dominant 10.0 SYNE2 LMNA
38 ataxia and polyneuropathy, adult-onset 10.0
39 branchiootic syndrome 1 10.0
40 fibrosis of extraocular muscles, congenital, 1 10.0
41 neonatal jaundice 10.0
42 severe combined immunodeficiency 10.0
43 encephalopathy 10.0
44 tremor 10.0
45 emery-dreifuss muscular dystrophy 1, x-linked 10.0 SYNE2 LMNA
46 myopathy, x-linked, with postural muscle atrophy 10.0 SYNE2 LMNA
47 hypothyroidism 10.0
48 thiopurines, poor metabolism of, 1 10.0 UGT1A8 UGT1A6 UGT1A1
49 dihydropyrimidine dehydrogenase deficiency 10.0 UGT1A8 UGT1A6 UGT1A1
50 glucosephosphate dehydrogenase deficiency 9.9 UGT1A8 UGT1A6 UGT1A1

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:



Diseases related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Symptoms & Phenotypes for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Human phenotypes related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000508
2 precocious puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000826
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
5 polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0000147
6 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
7 aplasia of the phalanges of the 3rd toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0100362
8 intellectual disability 31 occasional (7.5%) HP:0001249
9 osteopenia 31 HP:0000938
10 retrognathia 31 HP:0000278
11 lipodystrophy 31 HP:0009125
12 mitral regurgitation 31 HP:0001653
13 down-sloping shoulders 31 HP:0200021
14 short clavicles 31 HP:0000894

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
retrognathia

Endocrine Features:
hypergonadotropic hypogonadism

Chest External Features:
sloping shoulders

Head And Neck Eyes:
ptosis, bilateral (in some patients)

Cardiovascular Heart:
cardiomyopathy, dilated
mitral valve insufficiency
tricuspid valve insufficiency

Genitourinary Internal Genitalia Female:
ovarian failure, premature
ovarian dysgenesis

Skeletal Hands:
acrogeric appearance (prominent veins and lack of subcutaneous tissue)

Laboratory Abnormalities:
elevated serum levels of follicle stimulating hormone (fsh)
elevated serum levels of luteinizing hormone (lh)

Muscle Soft Tissue:
lipodystrophy

Neurologic Central Nervous System:
mental retardation (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
clavicular hypoplasia

Head And Neck Nose:
narrow, beaked nose

Genitourinary Internal Genitalia Male:
testicular failure

Skeletal:
osteopenia/osteoporosis

Skeletal Feet:
acrogeric appearance (prominent veins and lack of subcutaneous tissue)

Clinical features from OMIM®:

212112 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Drugs for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
2 Neurotransmitter Agents Phase 4
3 Psychotropic Drugs Phase 4
4 Gastrointestinal Agents Phase 4
5 Hypnotics and Sedatives Phase 4
6 Anesthetics Phase 4
7 Anesthetics, General Phase 4
8 Antiemetics Phase 4
9 Anesthetics, Intravenous Phase 4
10 Anticonvulsants Phase 4
11 Anti-Anxiety Agents Phase 4
12 GABA Modulators Phase 4
13
carbamide peroxide Approved Phase 1, Phase 2 124-43-6
14 Liver Extracts Phase 1, Phase 2
15
Acetylcholine Approved, Investigational 51-84-3 187
16
Orlistat Approved, Investigational 96829-58-2 3034010
17 abobotulinumtoxinA
18 Cholinergic Agents
19 Botulinum Toxins, Type A
20 Botulinum Toxins
21 Anti-Obesity Agents
22 Lipid Regulating Agents
23
Bilirubin 635-65-4 5280352

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Rectal Versus Oral Diazepam Administration in the Treatment of Levator Ani Syndrome in Participants Who Have Not Responded to Physical Therapy Treatment: A Prospective Randomized Study Recruiting NCT04216797 Phase 4 Diazepam Tablets
2 A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Promethera HepaStem in Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Paediatric Patients. Completed NCT01765283 Phase 1, Phase 2
3 VALENS: A Phase 1/2, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Preliminary Efficacy of AT342, an AAV8-Delivered Gene Transfer Therapy in Crigler-Najjar Syndrome Subjects Aged 1 Year and Older Terminated NCT03223194 Phase 1, Phase 2
4 Trial of a New Phototherapy Device for Treating Hyperbilirubinemia in Crigler-Najjar Patients : a New Concept Unknown status NCT02356978
5 Comparison of Biofeedback Therapy and Botulinum Toxin Type A Injections for Treatment of Painful Levator Ani Syndrome in Women: A Randomized, Prospective Trial Unknown status NCT00564707
6 Study of the Prevalence of Pre-existing Immunity Against the Adeno-associated Virus (AAV) in Patients With Crigler-Najjar Syndrome Completed NCT02302690
7 Orlistat Treatment of Unconjugated Hyperbilirubinemia in Crigler-Najjar Disease; A Randomized Controlled Trial Completed NCT00461799 orlistat
8 LUSTRO: A Clinical Assessment Study in Crigler-Najjar Syndrome Completed NCT03078881
9 Long-term Safety Follow-up Study of Patients Having Received Infusions of HepaStem Completed NCT02051049
10 A Phase I/II, Open Label, Escalating Dose Study to Evaluate Safety and Efficacy of an Intravenous Injection of GNT0003 (AAV Vector Expressing the UGT1A1 Transgene) in Patients With Severe Crigler-Najjar Syndrome Requiring Phototherapy Recruiting NCT03466463
11 HepaStem Long-Term Safety Registry - Registry for Patients Who Have Been Administered HepaStem Enrolling by invitation NCT03343756

Search NIH Clinical Center for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Cochrane evidence based reviews: malouf syndrome

Genetic Tests for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Genetic tests related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome 29 LMNA

Anatomical Context for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

MalaCards organs/tissues related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

40
Heart, Testes, Hypothalamus, Pituitary, Liver, Kidney, Skin

Publications for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Articles related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

(show all 16)
# Title Authors PMID Year
1
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 61 6 57
19283854 2009
2
Collagen expression in fibroblasts with a novel LMNA mutation. 57 6
17150192 2007
3
LMNA mutations in atypical Werner's syndrome. 57 6
12927431 2003
4
Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome. 57 61
1488988 1992
5
Familial dilated cardiomyopathy hypergonadotrophic hypogonadism associated with thyroid hemiagenesis. 57
16523513 2006
6
Drawing the line in progeria syndromes. 57
12927424 2003
7
Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians. 6
11015599 2000
8
Najjar syndrome revisited. 57
8291546 1993
9
Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. 57
2738902 1989
10
Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder? 57
3993676 1985
11
Genital anomaly and cardiomyopathy: a new syndrome. 57
6499250 1984
12
Familial cardiomyopathy, hypogonadism, and collagenoma. 57
7447187 1980
13
Genital anomaly, mental retardation, and cardiomyopathy: a new syndrome? 57
4717589 1973
14
Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy: two-case report and literature review. 61
25544917 2014
15
Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: a case report. 61
24008991 2013
16
Linkage disequilibrium of UGT1A1 *6 and UGT1A1 *28 in relation to UGT1A6 and UGT1A7 polymorphisms. 54
16969497 2006

Variations for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

ClinVar genetic disease variations for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.169G>C (p.Ala57Pro) SNV Pathogenic 14506 rs28928903 GRCh37: 1:156084878-156084878
GRCh38: 1:156115087-156115087
2 LMNA NM_170707.4(LMNA):c.176T>G (p.Leu59Arg) SNV Pathogenic 18457 rs58922911 GRCh37: 1:156084885-156084885
GRCh38: 1:156115094-156115094
3 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
4 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
5 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain significance 245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
6 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) SNV Uncertain significance 66797 rs267607606 GRCh37: 1:156106090-156106090
GRCh38: 1:156136299-156136299
7 LMNA NM_170707.4(LMNA):c.1381-5G>A SNV Uncertain significance 180405 rs730880133 GRCh37: 1:156106707-156106707
GRCh38: 1:156136916-156136916
8 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain significance 487635 rs758048062 GRCh37: 1:156108336-156108336
GRCh38: 1:156138545-156138545

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

72
# Symbol AA change Variation ID SNP ID
1 LMNA p.Ala57Pro VAR_017656 rs28928903
2 LMNA p.Leu59Arg VAR_064055 rs58922911

Expression for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism.

Pathways for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Pathways related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1 12.16 UGT1A8 UGT1A6 UGT1A1
2
Show member pathways
11.83 UGT1A8 UGT1A6 UGT1A1
3
Show member pathways
11.78 UGT1A8 UGT1A6 UGT1A1
4 11.5 UGT1A8 UGT1A6 UGT1A1
5
Show member pathways
11.4 UGT1A8 UGT1A6 UGT1A1
6
Show member pathways
11.33 UGT1A6 UGT1A1
7
Show member pathways
11.28 UGT1A8 UGT1A6 UGT1A1
8
Show member pathways
11.27 UGT1A8 UGT1A1
9 11.16 UGT1A6 UGT1A1
10
Show member pathways
11.16 UGT1A8 UGT1A6 UGT1A1
11 10.96 UGT1A6 UGT1A1
12
Show member pathways
10.9 UGT1A8 UGT1A6 UGT1A1
13
Show member pathways
10.33 UGT1A8 UGT1A6 UGT1A1

GO Terms for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Cellular components related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 8.8 ZMPSTE24 SYNE2 LMNA

Biological processes related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.48 ZMPSTE24 LMNA
2 drug metabolic process GO:0017144 9.46 UGT1A8 UGT1A1
3 retinoic acid metabolic process GO:0042573 9.43 UGT1A8 UGT1A1
4 nuclear envelope organization GO:0006998 9.4 ZMPSTE24 LMNA
5 negative regulation of fatty acid metabolic process GO:0045922 9.37 UGT1A8 UGT1A1
6 cellular glucuronidation GO:0052695 9.33 UGT1A8 UGT1A6 UGT1A1
7 flavone metabolic process GO:0051552 9.32 UGT1A8 UGT1A1
8 negative regulation of steroid metabolic process GO:0045939 9.26 UGT1A8 UGT1A1
9 xenobiotic glucuronidation GO:0052697 9.13 UGT1A8 UGT1A6 UGT1A1
10 flavonoid glucuronidation GO:0052696 8.8 UGT1A8 UGT1A6 UGT1A1

Molecular functions related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.5 UGT1A8 UGT1A6 UGT1A1
2 enzyme inhibitor activity GO:0004857 9.37 UGT1A8 UGT1A1
3 glucuronosyltransferase activity GO:0015020 9.33 UGT1A8 UGT1A6 UGT1A1
4 steroid binding GO:0005496 9.26 UGT1A8 UGT1A1
5 retinoic acid binding GO:0001972 9.13 UGT1A8 UGT1A6 UGT1A1
6 UDP-glycosyltransferase activity GO:0008194 8.8 UGT1A8 UGT1A6 UGT1A1

Sources for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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