Congenital Arthrogryposis with Anterior Horn Cell Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CAAHD MCID: CNG538 MIFTS: 32	Congenital Arthrogryposis with Anterior Horn Cell Disease (CAAHD) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Congenital Arthrogryposis with Anterior Horn Cell Disease

MalaCards integrated aliases for Congenital Arthrogryposis with Anterior Horn Cell Disease:

Name: Congenital Arthrogryposis with Anterior Horn Cell Disease ⁵⁶ ⁷³ ³⁶

Lethal Arthrogryposis with Anterior Horn Cell Disease ⁷³ ²⁹ ⁶

Arthrogryposis, Lethal, with Anterior Horn Cell Disease ¹³ ³⁹

Caahd ⁵⁶ ⁷³

Lethal Arthrogryposis with Anterior Horn Cell Disease, Formerly; Laahd, Formerly ⁵⁶

Lethal Arthrogryposis with Anterior Horn Cell Disease, Formerly ⁵⁶

Arthrogryposis-Anterior Horn Cell Disease Syndrome ⁵⁸

Laahd, Formerly ⁵⁶

Vuopala Disease ⁵⁸

Laahd ⁷³

Aahd ⁵⁸

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
onset in utero
death in infancy or early childhood may occur

HPO:

³¹

congenital arthrogryposis with anterior horn cell disease:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 611890

KEGG ³⁶ H01030

MeSH ⁴³ D001176 D016472

UMLS via Orphanet ⁷² C2678471

Orphanet ⁵⁸ ORPHA53696

MedGen ⁴¹ C2678471 C5193016

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Summaries for Congenital Arthrogryposis with Anterior Horn Cell Disease

OMIM : ⁵⁶ Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017). (611890)

MalaCards based summary : Congenital Arthrogryposis with Anterior Horn Cell Disease, also known as lethal arthrogryposis with anterior horn cell disease, is related to fetal akinesia deformation sequence 1 and alkuraya-kucinskas syndrome. An important gene associated with Congenital Arthrogryposis with Anterior Horn Cell Disease is GLE1 (GLE1 RNA Export Mediator). Affiliated tissues include spinal cord, skeletal muscle and tongue, and related phenotypes are microcephaly and dystonia

KEGG : ³⁶ Congenital arthrogryposis with anterior horn cell disease (CAAHD), formerly known as lethal arthrogryposis with anterior horn cell disease (LAAHD), is a condition with fetal akinesia deformation sequence (FADS), multiple contractures and facial anomalies. Motor neuron loss is also present in patients with CAAHD.

UniProtKB/Swiss-Prot : ⁷³ Congenital arthrogryposis with anterior horn cell disease: An autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe.

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Related Diseases for Congenital Arthrogryposis with Anterior Horn Cell Disease

Diseases related to Congenital Arthrogryposis with Anterior Horn Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	fetal akinesia deformation sequence 1	10.2
2	alkuraya-kucinskas syndrome	10.2
3	anterior horn cell disease	10.2
4	muscular atrophy	10.2
5	congenital amyoplasia	10.2

Graphical network of the top 20 diseases related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

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Symptoms & Phenotypes for Congenital Arthrogryposis with Anterior Horn Cell Disease

Human phenotypes related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

³¹ (show all 40)

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³¹	very rare (1%)	HP:0000252
2	dystonia ³¹	very rare (1%)	HP:0001332
3	cerebral atrophy ³¹	very rare (1%)	HP:0002059
4	seizure ³¹	very rare (1%)	HP:0001250
5	short neck ³¹		HP:0000470
6	hip dysplasia ³¹		HP:0001385
7	scoliosis ³¹		HP:0002650
8	kyphosis ³¹		HP:0002808
9	prominent forehead ³¹		HP:0011220
10	respiratory insufficiency due to muscle weakness ³¹		HP:0002747
11	feeding difficulties ³¹		HP:0011968
12	skeletal muscle atrophy ³¹		HP:0003202
13	cryptorchidism ³¹		HP:0000028
14	high palate ³¹		HP:0000218
15	retrognathia ³¹		HP:0000278
16	micrognathia ³¹		HP:0000347
17	low-set ears ³¹		HP:0000369
18	ptosis ³¹		HP:0000508
19	myopia ³¹		HP:0000545
20	motor delay ³¹		HP:0001270
21	talipes equinovarus ³¹		HP:0001762
22	fetal akinesia sequence ³¹		HP:0001989
23	downslanted palpebral fissures ³¹		HP:0000494
24	dysarthria ³¹		HP:0001260
25	arthrogryposis multiplex congenita ³¹		HP:0002804
26	respiratory failure ³¹		HP:0002878
27	single transverse palmar crease ³¹		HP:0000954
28	rocker bottom foot ³¹		HP:0001838
29	hand clenching ³¹		HP:0001188
30	generalized hypotonia ³¹		HP:0001290
31	difficulty walking ³¹		HP:0002355
32	inability to walk ³¹		HP:0002540
33	brisk reflexes ³¹		HP:0001348
34	mutism ³¹		HP:0002300
35	peripheral axonal neuropathy ³¹		HP:0003477
36	myopathic facies ³¹		HP:0002058
37	areflexia of lower limbs ³¹		HP:0002522
38	facial diplegia ³¹		HP:0001349
39	paucity of anterior horn motor neurons ³¹		HP:0007277
40	abnormal anterior horn cell morphology ³¹		HP:0006802

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Pelvis:
hip dysplasia

Head And Neck Face:
prominent forehead
retrognathia
micrognathia
myopathic facies
facial diplegia

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
difficulty walking
inability to walk
brisk reflexes
delayed motor development
seizures (in some patients)
more

Head And Neck Mouth:
high-arched palate
tent-shaped mouth
atrophic tongue

Head And Neck Head:
microcephaly (in some patients)

Skeletal:
arthrogryposis
contractures, congenital

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Spine:
scoliosis
kyphosis

Respiratory:
respiratory insufficiency due to muscle weakness
respiratory failure
mechanical ventilation

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Eyes:
ptosis
myopia
downslanting palpebral fissures

Muscle Soft Tissue:
hypotonia
muscle atrophy
loss of muscle fibers and increased fibrous tissue seen on muscle biopsy
emg indicates a neurogenic process

Skeletal Feet:
club feet
rocker-bottom feet

Skeletal Hands:
clenched hands
ulnar deviation of the fingers
single palmar crease

Neurologic Peripheral Nervous System:
areflexia of the lower limbs
axonal neuropathy

Clinical features from OMIM:

611890

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Drugs & Therapeutics for Congenital Arthrogryposis with Anterior Horn Cell Disease

Search Clinical Trials , NIH Clinical Center for Congenital Arthrogryposis with Anterior Horn Cell Disease

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Genetic Tests for Congenital Arthrogryposis with Anterior Horn Cell Disease

Genetic tests related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

#	Genetic test	Affiliating Genes
1	Lethal Arthrogryposis with Anterior Horn Cell Disease ²⁹

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Anatomical Context for Congenital Arthrogryposis with Anterior Horn Cell Disease

MalaCards organs/tissues related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

⁴⁰

Spinal Cord, Skeletal Muscle, Tongue

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Publications for Congenital Arthrogryposis with Anterior Horn Cell Disease

Articles related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

#	Title	Authors	PMID	Year
1	A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. ⁶¹ ⁶ ⁵⁶	Paakkola T...Uusimaa J	28657126	2018
2	Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. ⁶ ⁵⁶ ⁶¹	Said E...Lessel D	28884921	2017
3	Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. ⁵⁶ ⁶	Smith C...Bernier FP	27684565	2017
4	Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. ⁵⁶ ⁶	Nousiainen HO...Peltonen L	18204449	2008
5	The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. ⁵⁶ ⁶¹	Tan QK...Jiang YH	28729373	2017
6	Lethal arthrogryposis with anterior horn cell disease. ⁶¹ ⁵⁶	Vuopala K...Herva R	7821908	1995
7	Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. ⁶¹	Cerino M...Chabrol B	32537934	2020
8	Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. ⁶¹	Kaneb HM...Dion PA	25343993	2015
9	Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis. ⁶¹	Folkmann AW...Wente SR	24275432	2014

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Genes for Congenital Arthrogryposis with Anterior Horn Cell Disease

Genes related to Congenital Arthrogryposis with Anterior Horn Cell Disease (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GLE1	GLE1 RNA Export Mediator	Protein Coding	1568	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	18204449 28884921 28657126 (more) 27684565

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Variations for Congenital Arthrogryposis with Anterior Horn Cell Disease

ClinVar genetic disease variations for Congenital Arthrogryposis with Anterior Horn Cell Disease:

⁶ (show top 50) (show all 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GLE1	NM_001499.2(GLE1):c.1882-2A>G	SNV	Pathogenic	619141	rs1336481358	9:131301893-131301893	9:128539614-128539614
2	GLE1	NM_001003722.1(GLE1):c.100-7_100-3del	deletion	Pathogenic	619142		9:131271147-131271151	9:128508868-128508872
3	GLE1	NM_001003722.1(GLE1):c.2078C>T (p.Ser693Phe)	SNV	Pathogenic	619143	rs1564162129	9:131303430-131303430	9:128541151-128541151
4	GLE1	NM_001499.2(GLE1):c.1750C>T (p.Arg584Trp)	SNV	Pathogenic	619144	rs765269946	9:131298737-131298737	9:128536458-128536458
5	GLE1	NM_001499.2(GLE1):c.1849G>A (p.Val617Met)	SNV	Pathogenic	6464	rs121434408	9:131300337-131300337	9:128538058-128538058
6	GLE1	NM_001003722.1(GLE1):c.2051T>C (p.Ile684Thr)	SNV	Pathogenic	6465	rs121434409	9:131303403-131303403	9:128541124-128541124
7	GLE1	NM_001499.2(GLE1):c.433-10A>G	SNV	Pathogenic	6462	rs386833693	9:131284937-131284937	9:128522658-128522658
8	GLE1	NM_001499.2(GLE1):c.1706G>A (p.Arg569His)	SNV	Likely pathogenic	6463	rs121434407	9:131298693-131298693	9:128536414-128536414
9	GLE1	NM_001499.2(GLE1):c.823G>A (p.Asp275Asn)	SNV	Conflicting interpretations of pathogenicity	256860	rs146800850	9:131286051-131286051	9:128523772-128523772
10	GLE1	NM_001499.2(GLE1):c.1393T>A (p.Ser465Thr)	SNV	Conflicting interpretations of pathogenicity	289027	rs141709685	9:131295872-131295872	9:128533593-128533593
11	GLE1	NM_001499.2(GLE1):c.1641T>C (p.Tyr547=)	SNV	Conflicting interpretations of pathogenicity	193820	rs77053118	9:131296225-131296225	9:128533946-128533946
12	GLE1	NM_001003722.2(GLE1):c.643-4A>G	SNV	Conflicting interpretations of pathogenicity	706615		9:131285867-131285867	9:128523588-128523588
13	GLE1	NM_001003722.2(GLE1):c.1243-5G>A	SNV	Conflicting interpretations of pathogenicity	706479		9:131289730-131289730	9:128527451-128527451
14	GLE1	NM_001003722.2(GLE1):c.-34G>A	SNV	Uncertain significance	912454		9:131267051-131267051	9:128504772-128504772
15	GLE1	NM_001003722.2(GLE1):c.76C>G (p.Arg26Gly)	SNV	Uncertain significance	913573		9:131267160-131267160	9:128504881-128504881
16	GLE1	NM_001003722.2(GLE1):c.485C>T (p.Ser162Leu)	SNV	Uncertain significance	913956		9:131284999-131284999	9:128522720-128522720
17	GLE1	NM_001003722.2(GLE1):c.573G>C (p.Met191Ile)	SNV	Uncertain significance	913957		9:131285087-131285087	9:128522808-128522808
18	GLE1	NM_001003722.2(GLE1):c.719A>G (p.Glu240Gly)	SNV	Uncertain significance	915198		9:131285947-131285947	9:128523668-128523668
19	GLE1	NM_001003722.2(GLE1):c.737G>A (p.Arg246Gln)	SNV	Uncertain significance	915199		9:131285965-131285965	9:128523686-128523686
20	GLE1	NM_001003722.2(GLE1):c.928G>A (p.Glu310Lys)	SNV	Uncertain significance	912487		9:131287501-131287501	9:128525222-128525222
21	GLE1	NM_001003722.2(GLE1):c.947G>A (p.Arg316Gln)	SNV	Uncertain significance	912488		9:131287520-131287520	9:128525241-128525241
22	GLE1	NM_001003722.2(GLE1):c.1109C>T (p.Pro370Leu)	SNV	Uncertain significance	913605		9:131287682-131287682	9:128525403-128525403
23	GLE1	NM_001003722.2(GLE1):c.1396G>A (p.Val466Ile)	SNV	Uncertain significance	914004		9:131295875-131295875	9:128533596-128533596
24	GLE1	NM_001003722.2(GLE1):c.1431A>G (p.Gln477=)	SNV	Uncertain significance	914005		9:131295910-131295910	9:128533631-128533631
25	GLE1	NM_001003722.2(GLE1):c.1493C>G (p.Ala498Gly)	SNV	Uncertain significance	914006		9:131296077-131296077	9:128533798-128533798
26	GLE1	NM_001003722.2(GLE1):c.1554C>A (p.Asp518Glu)	SNV	Uncertain significance	914007		9:131296138-131296138	9:128533859-128533859
27	GLE1	NM_001003722.2(GLE1):c.*381C>T	SNV	Uncertain significance	912543		9:131303830-131303830	9:128541551-128541551
28	GLE1	NM_001003722.2(GLE1):c.*425A>G	SNV	Uncertain significance	913645		9:131303874-131303874	9:128541595-128541595
29	GLE1	NM_001003722.2(GLE1):c.*525C>T	SNV	Uncertain significance	913646		9:131303974-131303974	9:128541695-128541695
30	GLE1	NM_001003722.2(GLE1):c.*536G>A	SNV	Uncertain significance	914048		9:131303985-131303985	9:128541706-128541706
31	GLE1	NM_001003722.2(GLE1):c.*599G>A	SNV	Uncertain significance	914049		9:131304048-131304048	9:128541769-128541769
32	GLE1	NM_001003722.2(GLE1):c.*618T>C	SNV	Uncertain significance	914050		9:131304067-131304067	9:128541788-128541788
33	GLE1	NM_001003722.2(GLE1):c.*907G>A	SNV	Uncertain significance	914557		9:131304356-131304356	9:128542077-128542077
34	GLE1	NM_001003722.2(GLE1):c.*962C>T	SNV	Uncertain significance	912589		9:131304411-131304411	9:128542132-128542132
35	GLE1	NM_001003722.2(GLE1):c.*1002G>C	SNV	Uncertain significance	912590		9:131304451-131304451	9:128542172-128542172
36	GLE1	NM_001003722.2(GLE1):c.1130-15T>C	SNV	Uncertain significance	913606		9:131289443-131289443	9:128527164-128527164
37	GLE1	NM_001003722.2(GLE1):c.1882-8C>G	SNV	Uncertain significance	915237		9:131301887-131301887	9:128539608-128539608
38	GLE1	NM_001003722.2(GLE1):c.1964+8G>T	SNV	Uncertain significance	915238		9:131301985-131301985	9:128539706-128539706
39	GLE1	NM_001499.2(GLE1):c.-51G>A	SNV	Uncertain significance	365129	rs527886091	9:131267034-131267034	9:128504755-128504755
40	GLE1	NM_001499.2(GLE1):c.-45T>C	SNV	Uncertain significance	365130	rs372008961	9:131267040-131267040	9:128504761-128504761
41	GLE1	NM_001003722.1(GLE1):c.*390C>T	SNV	Uncertain significance	365140	rs886063491	9:131303839-131303839	9:128541560-128541560
42	GLE1	NM_001003722.1(GLE1):c.*933A>C	SNV	Uncertain significance	365146	rs537244282	9:131304382-131304382	9:128542103-128542103
43	GLE1	NM_001499.2(GLE1):c.-108C>A	SNV	Uncertain significance	365126	rs545478697	9:131266977-131266977	9:128504698-128504698
44	GLE1	NM_001499.2(GLE1):c.749C>T (p.Ala250Val)	SNV	Uncertain significance	365134	rs886063489	9:131285977-131285977	9:128523698-128523698
45	GLE1	NM_001003722.1(GLE1):c.2028+15G>A	SNV	Uncertain significance	365135	rs886063490	9:131302632-131302632	9:128540353-128540353
46	GLE1	NM_001003722.1(GLE1):c.*640C>T	SNV	Uncertain significance	365142	rs575049150	9:131304089-131304089	9:128541810-128541810
47	GLE1	NM_001499.2(GLE1):c.-81C>T	SNV	Uncertain significance	365128	rs56214514	9:131267004-131267004	9:128504725-128504725
48	GLE1	NM_001499.2(GLE1):c.54C>G (p.Asp18Glu)	SNV	Uncertain significance	365131	rs549769200	9:131267138-131267138	9:128504859-128504859
49	GLE1	NM_001003722.1(GLE1):c.*111T>C	SNV	Uncertain significance	365137	rs567740764	9:131303560-131303560	9:128541281-128541281
50	GLE1	NM_001499.2(GLE1):c.-84A>C	SNV	Uncertain significance	365127	rs886063488	9:131267001-131267001	9:128504722-128504722

UniProtKB/Swiss-Prot genetic disease variations for Congenital Arthrogryposis with Anterior Horn Cell Disease:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	GLE1	p.Val617Met	VAR_043876	rs121434408
2	GLE1	p.Ile684Thr	VAR_043877	rs121434409

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Expression for Congenital Arthrogryposis with Anterior Horn Cell Disease

Search GEO for disease gene expression data for Congenital Arthrogryposis with Anterior Horn Cell Disease.

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Pathways for Congenital Arthrogryposis with Anterior Horn Cell Disease

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GO Terms for Congenital Arthrogryposis with Anterior Horn Cell Disease

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Congenital Arthrogryposis with Anterior Horn Cell Disease (CAAHD)

Aliases & Classifications for Congenital Arthrogryposis with Anterior Horn Cell Disease

MalaCards integrated aliases for Congenital Arthrogryposis with Anterior Horn Cell Disease:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Congenital Arthrogryposis with Anterior Horn Cell Disease

Related Diseases for Congenital Arthrogryposis with Anterior Horn Cell Disease

Diseases related to Congenital Arthrogryposis with Anterior Horn Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

Symptoms & Phenotypes for Congenital Arthrogryposis with Anterior Horn Cell Disease

Human phenotypes related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Congenital Arthrogryposis with Anterior Horn Cell Disease

Genetic Tests for Congenital Arthrogryposis with Anterior Horn Cell Disease

Genetic tests related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

Anatomical Context for Congenital Arthrogryposis with Anterior Horn Cell Disease

MalaCards organs/tissues related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

Publications for Congenital Arthrogryposis with Anterior Horn Cell Disease

Articles related to Congenital Arthrogryposis with Anterior Horn Cell Disease:

Genes for Congenital Arthrogryposis with Anterior Horn Cell Disease

Genes related to Congenital Arthrogryposis with Anterior Horn Cell Disease (1 elite genes):

Variations for Congenital Arthrogryposis with Anterior Horn Cell Disease

ClinVar genetic disease variations for Congenital Arthrogryposis with Anterior Horn Cell Disease:

UniProtKB/Swiss-Prot genetic disease variations for Congenital Arthrogryposis with Anterior Horn Cell Disease:

Expression for Congenital Arthrogryposis with Anterior Horn Cell Disease

Pathways for Congenital Arthrogryposis with Anterior Horn Cell Disease

GO Terms for Congenital Arthrogryposis with Anterior Horn Cell Disease

Sources for Congenital Arthrogryposis with Anterior Horn Cell Disease