MBS
MCID: MBS002
MIFTS: 57

Moebius Syndrome (MBS)

Categories: Eye diseases, Fetal diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Moebius Syndrome

MalaCards integrated aliases for Moebius Syndrome:

Name: Moebius Syndrome 57 53 25 54 59 37 13 40
Mobius Syndrome 57 12 53 25 55 44 15 73
Congenital Facial Diplegia 53 25 54 59
Oromandibular-Limb Hypogenesis Spectrum 12 29 6
Moebius Sequence 57 53 25
Moebius Congenital Oculofacial Paralysis 12 25
Mbs 57 53
Absence or Underdevelopment of the 6th and 7th Cranial Nerves 53
Congenital Ophthalmoplegia and Facial Paresis 25
Congenital Facial Diplegia Syndrome 53
Congenital Oculofacial Paralysis 53
Mobius Syndrome; Mbs 57
Mobius Ii Syndrome 73
Moebius Spectrum 25
M�bius Syndrome 76
Möbius Sequence 25
Möbius Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
moebius syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Netherlands); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
highly variable phenotype
most cases are sporadic
may occur cormorbidly with poland syndrome


HPO:

32
moebius syndrome:
Mortality/Aging death in infancy
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Moebius Syndrome

OMIM : 57 The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings. (157900)

MalaCards based summary : Moebius Syndrome, also known as mobius syndrome, is related to ptosis and amblyopia, and has symptoms including palatal weakness An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1). Affiliated tissues include eye, tongue and bone, and related phenotypes are finger syndactyly and high palate

Genetics Home Reference : 25 Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.

NIH Rare Diseases : 53 Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. Moebius syndrome is caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movement and facial expression. Other cranial nerves may also be affected. There is no cure for Moebius syndrome, but proper care and treatment give many individuals a normal life expectancy.

NINDS : 54 Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. Many of the other cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th. The first symptom, present at birth, is an inability to suck. Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. Approximately 30 to 40 percent of children with Moebius syndrome have some degree of autism. There are four recognized categories of Moebius syndrome: Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; Group II, characterized by loss and degeneration of neurons in the facial peripheral nerve; Group III, characterized by loss and degeneration of neurons and other brain cells, microscopic areas of damage, and hardened tissue in the brainstem nuclei, and, Group IV, characterized by muscular symptoms in spite of a lack of lesions in the cranial nerve.

Wikipedia : 76 Möbius syndrome (also spelt Moebius) is an extremely rare congenital neurological disorder which is... more...

Related Diseases for Moebius Syndrome

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

(show top 50) (show all 306)
# Related Disease Score Top Affiliating Genes
1 ptosis 29.6 TUBB3 PHOX2A FOXL2
2 amblyopia 29.5 TUBB3 PHOX2A FOXL2
3 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 12.0
4 facial paresis, hereditary congenital, 1 11.7
5 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.6
6 medulloblastoma 11.5
7 charlie m syndrome 11.4
8 williams-beuren syndrome 11.3
9 chromosome 2p16.1-p15 deletion syndrome 11.3
10 chromosome 15q24 deletion syndrome 11.2
11 facial paresis, hereditary congenital, 2 11.2
12 hypoglossia-hypodactylia 11.1
13 facial paresis, hereditary congenital, 3 11.1
14 moebius axonal neuropathy hypogonadism 11.0
15 cenani-lenz syndactyly syndrome 11.0
16 potocki-lupski syndrome 11.0
17 chromosome 17q23.1-q23.2 deletion syndrome 11.0
18 yuan-harel-lupski syndrome 11.0
19 chromosome 8p23.1 deletion 11.0
20 mental retardation smith fineman myers type 11.0
21 myocardial infarction 10.5
22 acute myocardial infarction 10.4
23 hypogonadism 10.2
24 breast cancer 10.2
25 facial paralysis 10.1
26 exotropia 10.1 TUBB3 PHOX2A
27 facial nerve disease 10.1 TUBB3 PHOX2A
28 physical disorder 10.1 TUBB3 STAC3
29 hypotropia 10.1 TUBB3 PHOX2A
30 tukel syndrome 10.1 TUBB3 PHOX2A
31 microcephaly 10.1
32 paralytic squint 10.1 TUBB3 PHOX2A
33 ocular motility disease 10.1 TUBB3 PHOX2A
34 cranial nerve disease 10.1 TUBB3 PHOX2A
35 alacrima, achalasia, and mental retardation syndrome 10.0
36 stomach disease 10.0 TUBB3 CDX2
37 strabismus 10.0
38 cerebral palsy 10.0
39 atrial heart septal defect 10.0
40 malignant hyperthermia 10.0
41 neuropathy 10.0
42 dwarfism 10.0
43 heart disease 10.0
44 ischemia 10.0
45 basal ganglia calcification 10.0
46 exhibitionism 10.0
47 diabetes insipidus 10.0
48 dextrocardia 10.0
49 hypertropia 10.0 TUBB3 FOXL2
50 alkuraya-kucinskas syndrome 10.0

Graphical network of the top 20 diseases related to Moebius Syndrome:



Diseases related to Moebius Syndrome

Symptoms & Phenotypes for Moebius Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Neurologic Central Nervous System:
dysarthria
delayed motor development
mental retardation, mild
hypotonia in infancy
learning disabilities
more
Skeletal Feet:
pes planus
talipes equinovarus (44%)

Head And Neck Eyes:
microphthalmia
esotropia
exotropia
abduction palsy, usually bilateral
adduction palsy, usually bilateral
more
Genitourinary Internal Genitalia Male:
hypoplastic testes

Head And Neck Ears:
external ear defects (47%)

Head And Neck Mouth:
high-arched palate (61%)
tongue hypoplasia (77%)
asymmetric size of the tongue
limited tongue movement
tongue paresis, unilateral
more
Respiratory:
respiratory difficulties in infancy

Skeletal:
arthrogryposis (6%)

Skeletal Limbs:
lower limb deformities (69%)
hypoplasia of the lower limbs
anisomelia

Neurologic Peripheral Nervous System:
loss of sensation in the face (trigeminal nerve region, cn v) (11%)
peripheral neuropathy has been reported in rare cases

Skeletal Hands:
clinodactyly
brachydactyly
ectrodactyly
camptodactyly
syndactyly
more
Abdomen Gastrointestinal:
dysphagia
feeding problems in infancy

Head And Neck Face:
mask-like facies
facial paresis, usually bilateral
lower facial muscles may be spared
micrognathia (64% of patients)

Genitourinary External Genitalia Male:
small penis
poorly-developed scrotum

Endocrine Features:
hypogonadotropic hypogonadism (rare)

Head And Neck Nose:
flattened nasal bridge (81%)

Head And Neck Teeth:
teeth defects (37%)

Respiratory Nasopharynx:
pharyngeal weakness

Skeletal Pelvis:
hip defects

Skin Nails Hair Nails:
nail deformities

Voice:
nasal dysarthria


Clinical features from OMIM:

157900

Human phenotypes related to Moebius Syndrome:

59 32 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
3 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
6 facial palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0010628
7 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
8 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
9 abnormality of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0002997
10 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
11 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
12 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
13 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
14 micrognathia 59 32 very rare (1%) Occasional (29-5%) HP:0000347
15 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
16 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
17 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
18 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
19 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
20 hypogonadotrophic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000044
21 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
22 arthrogryposis multiplex congenita 59 32 very rare (1%) Occasional (29-5%) HP:0002804
23 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
24 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
25 blepharitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000498
26 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
27 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
28 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
29 open mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000194
30 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
31 reduced number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0009804
32 abnormality of the sense of smell 59 32 occasional (7.5%) Occasional (29-5%) HP:0004408
33 aplasia/hypoplasia of the tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0010295
34 aplasia/hypoplasia of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009601
35 ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000602
36 absent hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0004050
37 aplasia/hypoplasia of the radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0006501
38 aplasia/hypoplasia involving the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005914
39 aplasia of the pectoralis major muscle 59 32 frequent (33%) Frequent (79-30%) HP:0009751
40 breast aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100783
41 hypertelorism 32 very rare (1%) HP:0000316
42 short neck 32 HP:0000470
43 clinodactyly 32 HP:0030084
44 dysarthria 32 HP:0001260
45 gait disturbance 32 HP:0001288
46 depressed nasal bridge 32 HP:0005280
47 abnormality of the dentition 32 very rare (1%) HP:0000164
48 delayed speech and language development 32 very rare (1%) HP:0000750
49 pes planus 32 HP:0001763
50 intellectual disability, mild 32 HP:0001256

UMLS symptoms related to Moebius Syndrome:


palatal weakness

MGI Mouse Phenotypes related to Moebius Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.87 CDX2 FGF9 NEUROG1 PHOX2A PLXND1 REV3L
2 growth/size/body region MP:0005378 9.8 CDX2 FGF9 FOXL2 PHOX2A PLXND1 REV3L
3 homeostasis/metabolism MP:0005376 9.7 CDX2 FGF9 FOXL2 PHOX2A PLXND1 REV3L
4 mortality/aging MP:0010768 9.28 CDX2 FGF9 FOXL2 NEUROG1 PHOX2A PLXND1
5 limbs/digits/tail MP:0005371 9.26 CDX2 FGF9 PLXND1 STAC3

Drugs & Therapeutics for Moebius Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
2 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
3 Study on Moebius Syndrome and Congenital Facial Weakness Disorders Recruiting NCT02055248
4 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Moebius Syndrome

Cochrane evidence based reviews: mobius syndrome

Genetic Tests for Moebius Syndrome

Genetic tests related to Moebius Syndrome:

# Genetic test Affiliating Genes
1 Oromandibular-Limb Hypogenesis Spectrum 29

Anatomical Context for Moebius Syndrome

MalaCards organs/tissues related to Moebius Syndrome:

41
Eye, Tongue, Bone, Brain, Skeletal Muscle, Heart, Lung

Publications for Moebius Syndrome

Articles related to Moebius Syndrome:

(show top 50) (show all 164)
# Title Authors Year
1
Orthodontics and Moebius syndrome: an observational study. ( 29527867 )
2018
2
Brainstem dysgenesis: beyond Moebius syndrome. ( 29557550 )
2018
3
TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome. ( 29289389 )
2018
4
An interesting case of systemic lupus erythematosus in a patient with Moebius syndrome. ( 29356035 )
2018
5
Pathogenesis of cranial neuropathies in Moebius syndrome: Electrodiagnostic orofacial studies. ( 29424937 )
2018
6
Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia. ( 29774172 )
2018
7
Evaluation of Moebius syndrome with hand manifestations. ( 30457506 )
2018
8
Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features. ( 30556292 )
2018
9
Facial reanimation surgery in Möbius syndrome: Experience from 76 cases from a tertiary referral hospital in Latin America. ( 29153254 )
2018
10
Möbius syndrome with cardiac rhabdomyomas. ( 29336632 )
2018
11
Labial Incompetence in Mobius Syndrome: LeFort I Impaction Case Report and Review of Management Strategies. ( 29533695 )
2018
12
Long-Term Outcomes of Smile Reconstruction in Möbius Syndrome. ( 29579019 )
2018
13
Möbius syndrome: clinico-radiologic correlation. ( 30069750 )
2018
14
Regarding Maxillary Impaction for the Treatment of Labial Incompetence in Mobius Syndrome. ( 30213206 )
2018
15
"Rare place where I feel normal": Perceptions of a social support conference among parents of and people with Moebius syndrome. ( 28407536 )
2017
16
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. ( 28777491 )
2017
17
Three Cases of Exotropic Moebius Syndrome. ( 28196268 )
2017
18
Prosthodontic Management of a Patient with Moebius Syndrome: A Clinical Report. ( 29098745 )
2017
19
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. ( 28299356 )
2017
20
Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome. ( 28409036 )
2017
21
A proposal for new neurorehabilitative intervention on Moebius Syndrome patients after 'smile surgery'. Proof of concept based on mirror neuron system properties and hand-mouth synergistic activity. ( 28434583 )
2017
22
Morphological changes in support mechanism of superficial face layers in Moebius syndrome. ( 29250664 )
2017
23
Rare features associated with Mobius syndrome: Report of two cases. ( 28413599 )
2017
24
Mobius Syndrome: A 35-Year Single Institution Experience. ( 28538051 )
2017
25
A congenital cranial dysinnervation disorder: Möbius' syndrome. ( 29062251 )
2017
26
Bilateral Superior Rectus Transposition With Bilateral Medial Rectus Recession for Möbius Syndrome. ( 29156061 )
2017
27
Postobstructive Pulmonary Edema following Tonsillectomy/Adenoidectomy in a 2-Year-Old with Poland-Moebius Syndrome. ( 26942029 )
2016
28
Salivary parameters and oral health in the Moebius syndrome. ( 27061084 )
2016
29
MOEBIUS SYNDROME: CHALLENGES OF AIRWAY MANAGEMENT. ( 27276780 )
2016
30
Augmented superior rectus transposition surgery for vertical strabismus in moebius syndrome. ( 28478475 )
2016
31
Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome. ( 27729154 )
2016
32
Caries Experience in Individuals with Moebius Syndrome. ( 26892218 )
2016
33
Quality of life and adjustment in children and adolescents with Moebius syndrome: Evidence for specific impairments in social functioning. ( 26921525 )
2016
34
Managing the child with a diagnosis of Moebius syndrome: more than meets the eye. ( 26868039 )
2016
35
Moebius syndrome: clinical features, diagnosis, management and early intervention. ( 27260152 )
2016
36
Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study. ( 26977161 )
2016
37
Möbius syndrome. ( 27695248 )
2016
38
Unmasking Moebius syndrome. ( 25785409 )
2015
39
Examining the genetics of congenital facial paralysis-a closer look at Moebius syndrome. ( 25663568 )
2015
40
Atraumatic restorative technique: case report on dental management of a patient with Moebius syndrome. ( 25989267 )
2015
41
Möbius syndrome associated with neurofibromatosis Type 1: A rare co-occurrence. ( 26167228 )
2015
42
Möbius Syndrome: Comprehensive Assessment of Facial Palsy and Oculomotor Deficits With Magnetic Resonance Imaging. ( 26341672 )
2015
43
Training in Compensatory Strategies Enhances Rapport in Interactions Involving People with Möbius Syndrome. ( 26500605 )
2015
44
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. ( 24612975 )
2014
45
Moebius syndrome and narcolepsy: A case dissertation. ( 26483899 )
2014
46
Moebius syndrome with Taussig-Bing anomaly. ( 24584392 )
2014
47
"People are all about appearances": A focus group of teenagers with Moebius Syndrome. ( 24423573 )
2014
48
Mirror movements identified in patients with moebius syndrome. ( 25120946 )
2014
49
The etiology of möbius syndrome: a social problem? ( 25992096 )
2014
50
Möbius syndrome: misoprostol use and speech and language characteristics. ( 25992099 )
2014

Variations for Moebius Syndrome

ClinVar genetic disease variations for Moebius Syndrome:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPB7 NM_014424.4(HSPB7): c.442A> G (p.Thr148Ala) single nucleotide variant Likely benign rs530970423 GRCh37 Chromosome 1, 16342146: 16342146
2 HSPB7 NM_014424.4(HSPB7): c.442A> G (p.Thr148Ala) single nucleotide variant Likely benign rs530970423 GRCh38 Chromosome 1, 16015651: 16015651
3 FAM71A NM_153606.3(FAM71A): c.1465T> C (p.Ser489Pro) single nucleotide variant Likely benign rs767737768 GRCh37 Chromosome 1, 212799684: 212799684
4 FAM71A NM_153606.3(FAM71A): c.1465T> C (p.Ser489Pro) single nucleotide variant Likely benign rs767737768 GRCh38 Chromosome 1, 212626342: 212626342
5 FAM71A NM_153606.3(FAM71A): c.1475G> A (p.Gly492Asp) single nucleotide variant Likely benign rs886037883 GRCh38 Chromosome 1, 212626352: 212626352
6 FAM71A NM_153606.3(FAM71A): c.1475G> A (p.Gly492Asp) single nucleotide variant Likely benign rs886037883 GRCh37 Chromosome 1, 212799694: 212799694
7 PTCH2 NM_003738.4(PTCH2): c.2018G> T (p.Arg673Leu) single nucleotide variant Likely benign rs760548568 GRCh38 Chromosome 1, 44827883: 44827883
8 PTCH2 NM_003738.4(PTCH2): c.2018G> T (p.Arg673Leu) single nucleotide variant Likely benign rs760548568 GRCh37 Chromosome 1, 45293555: 45293555
9 PTCH2 NM_003738.4(PTCH2): c.1156A> T (p.Ile386Phe) single nucleotide variant Likely benign rs775127172 GRCh38 Chromosome 1, 44829461: 44829461
10 PTCH2 NM_003738.4(PTCH2): c.1156A> T (p.Ile386Phe) single nucleotide variant Likely benign rs775127172 GRCh37 Chromosome 1, 45295133: 45295133
11 HECW2 NM_020760.3(HECW2): c.3394G> A (p.Asp1132Asn) single nucleotide variant Likely benign rs552109642 GRCh37 Chromosome 2, 197122572: 197122572
12 HECW2 NM_020760.3(HECW2): c.3394G> A (p.Asp1132Asn) single nucleotide variant Likely benign rs552109642 GRCh38 Chromosome 2, 196257848: 196257848
13 HECW2 NM_020760.3(HECW2): c.2270_2272delAAG (p.Glu757del) deletion Likely benign rs757981529 GRCh37 Chromosome 2, 197183342: 197183344
14 HECW2 NM_020760.3(HECW2): c.2270_2272delAAG (p.Glu757del) deletion Likely benign rs757981529 GRCh38 Chromosome 2, 196318618: 196318620
15 HECW2 NM_020760.3(HECW2): c.1249_1251delAAT (p.Asn417del) deletion Likely benign rs774571391 GRCh37 Chromosome 2, 197184363: 197184365
16 HECW2 NM_020760.3(HECW2): c.1249_1251delAAT (p.Asn417del) deletion Likely benign rs774571391 GRCh38 Chromosome 2, 196319639: 196319641
17 BSN NM_003458.3(BSN): c.7366_7377delCAGCAGCTGCAG (p.Gln2463_Leu2466del) deletion Uncertain significance rs759806020 GRCh38 Chromosome 3, 49656922: 49656933
18 BSN NM_003458.3(BSN): c.7366_7377delCAGCAGCTGCAG (p.Gln2463_Leu2466del) deletion Uncertain significance rs759806020 GRCh37 Chromosome 3, 49694355: 49694366
19 SIM1 NM_005068.2(SIM1): c.2119G> C (p.Asp707His) single nucleotide variant Uncertain significance rs74726213 GRCh37 Chromosome 6, 100838419: 100838419
20 SIM1 NM_005068.2(SIM1): c.2119G> C (p.Asp707His) single nucleotide variant Uncertain significance rs74726213 GRCh38 Chromosome 6, 100390543: 100390543
21 SIM1 NM_005068.2(SIM1): c.1994G> A (p.Arg665His) single nucleotide variant Likely benign rs146866401 GRCh37 Chromosome 6, 100838544: 100838544
22 SIM1 NM_005068.2(SIM1): c.1994G> A (p.Arg665His) single nucleotide variant Likely benign rs146866401 GRCh38 Chromosome 6, 100390668: 100390668
23 ADAMTS8 NM_007037.5(ADAMTS8): c.2109C> A (p.Tyr703Ter) single nucleotide variant Uncertain significance rs199760382 GRCh37 Chromosome 11, 130276014: 130276014
24 ADAMTS8 NM_007037.5(ADAMTS8): c.2109C> A (p.Tyr703Ter) single nucleotide variant Uncertain significance rs199760382 GRCh38 Chromosome 11, 130406119: 130406119
25 BCDIN3D NM_181708.2(BCDIN3D): c.23A> G (p.Asp8Gly) single nucleotide variant Likely benign rs143608766 GRCh37 Chromosome 12, 50236848: 50236848
26 BCDIN3D NM_181708.2(BCDIN3D): c.23A> G (p.Asp8Gly) single nucleotide variant Likely benign rs143608766 GRCh38 Chromosome 12, 49843065: 49843065
27 KBTBD7 NM_032138.6(KBTBD7): c.1496C> G (p.Pro499Arg) single nucleotide variant Likely benign rs754048481 GRCh37 Chromosome 13, 41766898: 41766898
28 KBTBD7 NM_032138.6(KBTBD7): c.1496C> G (p.Pro499Arg) single nucleotide variant Likely benign rs754048481 GRCh38 Chromosome 13, 41192762: 41192762
29 KBTBD7 NM_032138.6(KBTBD7): c.1208A> C (p.Lys403Thr) single nucleotide variant Likely benign rs748092018 GRCh37 Chromosome 13, 41767186: 41767186
30 KBTBD7 NM_032138.6(KBTBD7): c.1208A> C (p.Lys403Thr) single nucleotide variant Likely benign rs748092018 GRCh38 Chromosome 13, 41193050: 41193050
31 PLCB2 NM_004573.2(PLCB2): c.2585C> A (p.Thr862Lys) single nucleotide variant Likely benign rs779256250 GRCh38 Chromosome 15, 40291866: 40291866
32 PLCB2 NM_004573.2(PLCB2): c.2585C> A (p.Thr862Lys) single nucleotide variant Likely benign rs779256250 GRCh37 Chromosome 15, 40584067: 40584067
33 PLCB2 NM_004573.2(PLCB2): c.1154A> G (p.Lys385Arg) single nucleotide variant Likely benign rs769251460 GRCh37 Chromosome 15, 40590425: 40590425
34 PLCB2 NM_004573.2(PLCB2): c.1154A> G (p.Lys385Arg) single nucleotide variant Likely benign rs769251460 GRCh38 Chromosome 15, 40298224: 40298224
35 NPIPA5 NM_001277325.1(NPIPA5): c.962C> T (p.Pro321Leu) single nucleotide variant Uncertain significance rs886037884 GRCh38 Chromosome 16, 15363750: 15363750
36 NPIPA5 NM_001277325.1(NPIPA5): c.962C> T (p.Pro321Leu) single nucleotide variant Uncertain significance rs886037884 GRCh37 Chromosome 16, 15457607: 15457607
37 MRPL28 NM_006428.4(MRPL28): c.610G> A (p.Val204Met) single nucleotide variant Likely benign rs181590179 GRCh38 Chromosome 16, 368381: 368381
38 MRPL28 NM_006428.4(MRPL28): c.610G> A (p.Val204Met) single nucleotide variant Likely benign rs181590179 GRCh37 Chromosome 16, 418381: 418381
39 MRPL28 NM_006428.4(MRPL28): c.176G> C (p.Arg59Pro) single nucleotide variant Likely benign rs149440376 GRCh38 Chromosome 16, 370043: 370043
40 MRPL28 NM_006428.4(MRPL28): c.176G> C (p.Arg59Pro) single nucleotide variant Likely benign rs149440376 GRCh37 Chromosome 16, 420043: 420043
41 CDH11 NM_001797.3(CDH11): c.1247C> T (p.Pro416Leu) single nucleotide variant Likely benign rs200234049 GRCh38 Chromosome 16, 64982054: 64982054
42 CDH11 NM_001797.3(CDH11): c.1247C> T (p.Pro416Leu) single nucleotide variant Likely benign rs200234049 GRCh37 Chromosome 16, 65015957: 65015957
43 CDH11 NM_001797.3(CDH11): c.95G> A (p.Arg32Gln) single nucleotide variant Likely benign rs757142171 GRCh38 Chromosome 16, 65004775: 65004775
44 CDH11 NM_001797.3(CDH11): c.95G> A (p.Arg32Gln) single nucleotide variant Likely benign rs757142171 GRCh37 Chromosome 16, 65038678: 65038678
45 KDM6B NM_001080424.2(KDM6B): c.763_768dupCCACCA (p.Pro264_Leu265insProPro) duplication Uncertain significance rs768799563 GRCh38 Chromosome 17, 7846870: 7846875
46 KDM6B NM_001080424.2(KDM6B): c.763_768dupCCACCA (p.Pro264_Leu265insProPro) duplication Uncertain significance rs768799563 GRCh37 Chromosome 17, 7750188: 7750193
47 AMH NM_000479.4(AMH): c.350G> A (p.Arg117Gln) single nucleotide variant Likely benign rs185020288 GRCh38 Chromosome 19, 2249682: 2249682
48 AMH NM_000479.4(AMH): c.350G> A (p.Arg117Gln) single nucleotide variant Likely benign rs185020288 GRCh37 Chromosome 19, 2249681: 2249681
49 ZNF787 NM_001002836.3(ZNF787): c.1086G> C (p.Glu362Asp) single nucleotide variant Uncertain significance rs202243737 GRCh38 Chromosome 19, 56088086: 56088086
50 ZNF787 NM_001002836.3(ZNF787): c.1086G> C (p.Glu362Asp) single nucleotide variant Uncertain significance rs202243737 GRCh37 Chromosome 19, 56599455: 56599455

Expression for Moebius Syndrome

Search GEO for disease gene expression data for Moebius Syndrome.

Pathways for Moebius Syndrome

GO Terms for Moebius Syndrome

Biological processes related to Moebius Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.26 CDX2 FGF9 FOXL2 NEUROG1
2 inner ear morphogenesis GO:0042472 8.62 FGF9 NEUROG1

Molecular functions related to Moebius Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 8.92 CDX2 FOXL2 NEUROG1 PHOX2A

Sources for Moebius Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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