AIC
MCID: ACR012
MIFTS: 42

Aicardi Syndrome (AIC)

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

Aliases & Classifications for Aicardi Syndrome

MalaCards integrated aliases for Aicardi Syndrome:

Name: Aicardi Syndrome 57 12 75 24 53 25 54 59 37 13 44 15
Aicardi's Syndrome 25 29 72
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 57 53
Agenesis of Corpus Callosum with Chorioretinal Abnormality 25 59
Aic 57 53
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 25
Callosal Agenesis and Ocular Abnormalities 25
Chorioretinal Anomalies with Acc 25

Characteristics:

Orphanet epidemiological data:

59
aicardi syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
x-linked dominant


HPO:

32
aicardi syndrome:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:8461
OMIM 57 304050
KEGG 37 H01776
MeSH 44 D058540
NCIt 50 C35256
SNOMED-CT 68 80651009
MESH via Orphanet 45 D058540
ICD10 via Orphanet 34 Q04.0
UMLS via Orphanet 73 C0175713
Orphanet 59 ORPHA50
MedGen 42 C0175713
UMLS 72 C0175713

Summaries for Aicardi Syndrome

NIH Rare Diseases : 53 Aicardi syndrome is a rare neurological disorder. The severity of the syndrome and the associated signs and symptoms vary from person to person. The three main features of Aicardi syndrome are: Complete or partial absence of the nerve tissue that allows the right and left sides of the brain to communicate (corpus callosum) Seizures beginning in infancy (infantile spasms), that may become hard to control (refractory epilepsy) Defects or holes in the light sensitive tissue at the back of the eye (retina) known as chorioretinal lacunae Other signs and symptoms may include: Developmental delay Intellectual disability that ranges from very mild to severe Characteristic facial features, such as a short distance between the nose and lips, a flat nose, large ears and thin eyebrows. Other brain malformations such as a very small head (microcephaly) Other eye defects, such as very small eyes (microphthalmia) or a defect of the nerve connecting the retina to the brain (optic nerve) known as coloboma. The cause of Aicardi syndrome is currently unknown. Because the syndrome almost only affects females, it is believed to be caused by a change (mutation) in a gene located on the X-chromosome and inherited in a dominant X-linked manner. However, most cases are de novo, which means the genetic change happened by mistake during the making of the egg or the sperm and there are no other cases of the syndrome in the family. While there is no known cure for Aicardi syndrome, there are treatments that can help control symptoms. Seizures may be treated with ketogenic diet and different types of anti-seizure medications. If medication does not control the seizures, a vagal nerve stimulator may be used or, in more severe cases, surgery may be considered. Other treatment may include physical therapy, speech therapy, and occupational therapy, as well as support for skeletal and muscle problems to prevent scoliosis related complication. Speech is usually very limited, while other abilities and disabilities vary greatly. In cases of severe epilepsy and/or if there are serious brain or eye defects, the intellectual disabilities tend to be more severe. The life span of girls with Aicardi syndrome usually averages between 8 and 18 years, but several women with milder symptoms have lived into their 30's and 40's. Very severe cases may not live beyond infancy.

MalaCards based summary : Aicardi Syndrome, also known as aicardi's syndrome, is related to west syndrome and corpus callosum, agenesis of, and has symptoms including seizures An important gene associated with Aicardi Syndrome is AIC (Aicardi Syndrome). Affiliated tissues include brain, eye and retina, and related phenotypes are abnormality of retinal pigmentation and intellectual disability, severe

Disease Ontology : 12 A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.

Genetics Home Reference : 25 Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina). People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the brain, brain folds and grooves that are small in size or reduced in number, cysts, and enlargement of the fluid-filled cavities (ventricles) near the center of the brain. Some have an unusually small head (microcephaly). Most affected individuals have moderate to severe developmental delay and intellectual disability, although some people with this disorder have milder disability. In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals. Some people with Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse eyebrows. Other features of this condition include small hands, hand malformations, and spinal and rib abnormalities leading to progressive abnormal curvature of the spine (scoliosis). They often have gastrointestinal problems such as constipation or diarrhea, gastroesophageal reflux, and difficulty feeding. The severity of Aicardi syndrome varies. Some people with this disorder have very severe epilepsy and may not survive past childhood. Less severely affected individuals may live into adulthood with milder signs and symptoms.

OMIM : 57 Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae ('holes'). Flexion spasms in the infant represent the usual mode of clinical presentation (Aicardi, 1999). (304050)

NINDS : 54 Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified, but it is thought to be caused by a dominant mutation that appears for the first time in a family in an x-linked gene that may be lethal in certain males.. Aicardi syndrome can be seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known. Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) infantile spasms (a type of seizure disorder), and 3)chorioretinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional feature such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, small hands, and an increased incidence of tumors. (Aicardi syndrome is distinct from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.)

KEGG : 37
Aicardi syndrome is a rare neurodevelopmental disorder. The main diagnostic features are agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms. Along with agenesis of corpus callosum, typical brain abnormalities include polymicrogyria, periventricular and subcortical heterotopia, intracranial cysts, cerebellar abnormalities, and enlarged cisterna magna. Neurological abnormalities include microcephaly, optic nerve coloboma, developmental delay, mental retardation, intractable epilepsy, hypotonia and limb hypertonia with spasticity. The etiology of Aicardi syndrome is still unknown. However, as the disorder is only observed in females and in males with chromosome 47, XXY, it is assumed to be caused by a de novo mutation on the X chromosome and inherited in a dominant manner with lethality in males.

Wikipedia : 75 Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete... more...

GeneReviews: NBK1381

Related Diseases for Aicardi Syndrome

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

(show top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 west syndrome 30.2 FLNA CDKL5
2 corpus callosum, agenesis of 11.6
3 aicardi-goutieres syndrome 1 11.6
4 polymicrogyria 11.5
5 hepatoblastoma 11.5
6 encephalopathy 11.5
7 pseudo-torch syndrome 1 11.3
8 aicardi-goutieres syndrome 11.3
9 peho syndrome 11.1
10 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 11.1
11 microphthalmia 10.4
12 seizure disorder 10.4
13 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.4
14 visual epilepsy 10.4
15 47, xxy 10.4
16 diabetes mellitus 10.3
17 coloboma of macula 10.3
18 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
19 scoliosis 10.3
20 squamous cell papilloma 10.3
21 papilloma 10.3
22 hemophilia 10.3
23 papilloma of choroid plexus 10.3
24 cleft lip 10.2
25 factor viii deficiency 10.2
26 autism 10.2
27 hemophilia a 10.2
28 glucose intolerance 10.2
29 47,xyy 10.2
30 cleft lip/palate 10.2
31 corpus callosum, partial agenesis of, x-linked 10.1
32 hydrocephalus 10.1
33 epilepsy 10.1
34 arachnoid cysts 10.1
35 congenital hydrocephalus 10.1
36 retinal detachment 10.1
37 angiosarcoma 10.1
38 persistent hyperplastic primary vitreous 10.1
39 hemangioma 10.1
40 holoprosencephaly 10.1
41 encephalocele 10.1
42 cerebral malformation 10.1
43 diabetes mellitus, noninsulin-dependent 10.0
44 myositis 10.0
45 cystic fibrosis 10.0
46 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
47 sickle cell anemia 10.0
48 microvascular complications of diabetes 1 10.0
49 diabetes mellitus, ketosis-prone 10.0
50 microvascular complications of diabetes 2 10.0

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



Diseases related to Aicardi Syndrome

Symptoms & Phenotypes for Aicardi Syndrome

Human phenotypes related to Aicardi Syndrome:

59 32 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
2 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
3 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
4 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
5 polymicrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002126
6 pachygyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001302
7 partial agenesis of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001338
8 moderate global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011343
9 infantile spasms 59 32 hallmark (90%) Very frequent (99-80%) HP:0012469
10 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
11 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
12 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
13 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
14 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
15 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
16 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
17 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
18 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
19 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
20 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
21 rib fusion 59 32 frequent (33%) Frequent (79-30%) HP:0000902
22 bifid ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000892
23 missing ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000921
24 block vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0003305
25 butterfly vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0003316
26 sparse lateral eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0005338
27 supernumerary ribs 59 32 frequent (33%) Frequent (79-30%) HP:0005815
28 prominence of the premaxilla 32 frequent (33%) HP:0010759
29 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
30 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
31 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
32 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
33 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
34 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
35 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
36 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
37 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
38 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
39 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
40 multiple lipomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001012
41 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
42 small hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0200055
43 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
44 cleft upper lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000204
45 intestinal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0200008
46 plagiocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001357
47 optic nerve coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000588
48 hiatus hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002036
49 hepatoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002884
50 cataract 32 HP:0000518

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataract
optic atrophy
microphthalmia
retinal detachment
more
Neurologic Central Nervous System:
seizures
dandy-walker malformation
pachygyria
infantile spasms
delayed myelination
more
Head And Neck Head:
microcephaly

Growth Other:
postnatal growth retardation

Respiratory Lung:
recurrent pneumonia

Neoplasia:
hepatoblastoma
metastatic angiosarcoma
benign teratoma
embryonal carcinoma

Head And Neck Nose:
upturned nasal tip
decreased angle of nasal bridge

Abdomen Gastrointestinal:
hiatal hernia

Endocrine Features:
precocious puberty

Skeletal Spine:
scoliosis
hemivertebrae
spina bifida
block vertebrae
butterfly vertebrae

Head And Neck Mouth:
cleft palate
cleft lip
prominent premaxilla

Head And Neck Face:
facial asymmetry

Chest Ribs Sternum Clavicles And Scapulae:
bifid ribs
fused ribs
extra ribs
absent ribs

Skin Nails Hair Skin:
skin tags
multiple nevi
scalp lipoma
hypopigmented macules
hemangiomas

Skeletal Hands:
proximally placed thumbs

Skin Nails Hair Hair:
sparse lateral eyebrows

Clinical features from OMIM:

304050

UMLS symptoms related to Aicardi Syndrome:


seizures

GenomeRNAi Phenotypes related to Aicardi Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.32 CDKL5 FLNA
2 Decreased viability GR00221-A-1 9.32 CDKL5
3 Decreased viability GR00221-A-2 9.32 CDKL5
4 Decreased viability GR00221-A-3 9.32 CDKL5
5 Decreased viability GR00221-A-4 9.32 CDKL5
6 Decreased viability GR00342-S-1 9.32 CDKL5
7 Decreased viability GR00342-S-3 9.32 CDKL5
8 Decreased viability GR00402-S-2 9.32 CDKL5 FLNA

Drugs & Therapeutics for Aicardi Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411
2 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305

Search NIH Clinical Center for Aicardi Syndrome

Cochrane evidence based reviews: aicardi syndrome

Genetic Tests for Aicardi Syndrome

Genetic tests related to Aicardi Syndrome:

# Genetic test Affiliating Genes
1 Aicardi's Syndrome 29

Anatomical Context for Aicardi Syndrome

MalaCards organs/tissues related to Aicardi Syndrome:

41
Brain, Eye, Retina, Skin, Cerebellum, Pineal, Cortex

Publications for Aicardi Syndrome

Articles related to Aicardi Syndrome:

(show top 50) (show all 319)
# Title Authors PMID Year
1
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. 38 4 8
19842196 2009
2
Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. 38 4 8
19610089 2009
3
Non-random X chromosome inactivation in Aicardi syndrome. 38 4 8
19116729 2009
4
Neuroimaging aspects of Aicardi syndrome. 38 4 8
18925666 2008
5
Facial and physical features of Aicardi syndrome: infants to teenagers. 38 4 8
16158440 2005
6
Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. 38 4 8
2773986 1989
7
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 38 8
19793311 2009
8
Aicardi syndrome. 38 8
9640202 1998
9
Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome. 38 8
9272173 1997
10
Monozygotic twins discordant for Aicardi syndrome. 38 8
9279766 1997
11
Aicardi syndrome with multiple tumors: a case report with literature review. 38 8
7503393 1995
12
Aicardi syndrome--the elusive mild case. 38 8
8060941 1994
13
Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma. 38 8
8456830 1993
14
Aicardi syndrome: early neuroradiological manifestations and results of DNA studies in one patient. 38 8
2012135 1991
15
Cleft lip and palate in Aicardi syndrome. 38 8
2260557 1990
16
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. 38 8
1971852 1990
17
Aicardi syndrome in two sisters. 38 8
2754559 1989
18
Aicardi syndrome with holoprosencephaly and cleft lip and palate. 38 8
3508052 1987
19
Aicardi syndrome. Report of 6 cases and a review of Japanese literature. 38 8
4061784 1985
20
Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. 38 8
6707796 1984
21
Aicardi's syndrome. A clinicopathologic study. 38 8
6696671 1984
22
X-linked dominant inherited diseases with lethality in hemizygous males. 38 8
6873941 1983
23
Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. 38 8
6818132 1982
24
Aicardi syndrome in a male infant. 38 8
7351599 1980
25
The Aicardi syndrome in a 47, XXY male. 38 8
546395 1979
26
The Aicardi syndrome: report of 4 cases and review of the literature. 38 8
111607 1979
27
Aicardi's syndrome; radiologic manifestations. 38 8
644071 1978
28
EEG recognition of Aicardi's syndrome. 38 8
407892 1977
29
The Aicardi syndrome. 38 8
4624502 1972
30
Aicardi syndrome and cognitive abilities: A report of five cases. 38 6
28641168 2017
31
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? 38 4
24657013 2014
32
A genome-wide screen for copy number alterations in Aicardi syndrome. 38 4
19760649 2009
33
Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly. 38 4
19155022 2009
34
A male phenotype with Aicardi syndrome. 38 4
19182158 2009
35
Aicardi syndrome in a male patient. 38 4
19639527 2009
36
Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. 38 4
19116813 2009
37
Aicardi syndrome in a genotypic male. 38 4
19005990 2008
38
New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. 38 4
18182643 2008
39
Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH. 38 4
17625997 2007
40
Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002. 38 4
18058626 2007
41
Aicardi syndrome with favorable outcome: case report and review. 38 4
17207597 2007
42
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. 38 4
17621479 2007
43
Aicardi syndrome: chorioretinal lacunae without corpus callosum agenesis. 38 4
17031307 2006
44
Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. 38 4
16967367 2006
45
Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy? 38 4
15934491 2005
46
Aicardi syndrome. 38 4
15737696 2005
47
Early treatment of Aicardi syndrome with vigabatrin can improve outcome. 38 4
15534281 2004
48
Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review. 38 4
15534766 2004
49
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. 38 4
15365465 2004
50
Aicardi syndrome with Pierre Robin sequence. 38 4
15088056 2004

Variations for Aicardi Syndrome

Copy number variations for Aicardi Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 257113 X 1 24900000 Copy number Aicardi syndrome

Expression for Aicardi Syndrome

Search GEO for disease gene expression data for Aicardi Syndrome.

Pathways for Aicardi Syndrome

GO Terms for Aicardi Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 Rac GTPase binding GO:0048365 8.62 FLNA CDKL5

Sources for Aicardi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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