ACC
MCID: CRP032
MIFTS: 49

Corpus Callosum, Agenesis of (ACC)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corpus Callosum, Agenesis of

MalaCards integrated aliases for Corpus Callosum, Agenesis of:

Name: Corpus Callosum, Agenesis of 56
Corpus Callosum Agenesis 74 52 29 54 6
Isolated Corpus Callosum Agenesis 52 58
Agenesis of the Corpus Callosum 52 53
Agenesis of Corpus Callosum 29 39
Non Rare in Europe: Isolated Corpus Callosum Agenesis 52
Acc 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
corpus callosum, agenesis of:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Corpus Callosum, Agenesis of

NINDS : 53 Agenesis of the corpus callosum (ACC) is one of several disorders of the corpus callosum, the structure that connects the two hemispheres (left and right) of the brain. In ACC the corpus callosum is partially or completely absent.  It is caused by a disruption of brain cell migration during fetal development. ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called Aicardi syndrome, which causes severe cognitive impairment and developmental delays, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Children with the most severe brain malformations may have intellectual impairment, seizures, hydrocephalus, and spasticity.  Other disorders of the corpus callosum include dysgenesis, in which the corpus callosum is developed in a malformed or incomplete way, and hypoplasia, in which the corpus callosum is thinner than usual.  Individuals with these disorders have a higher risk of hearing deficits and cardiac abnormalities than individuals with the normal structure. Impairments in social interaction and communication in individuals having a disorder of the corpus callosum may overlap with autism spectrum disorder behaviors.  It is estimated that at least one in 4,000 individuals has a disorder of the corpus callosum.

MalaCards based summary : Corpus Callosum, Agenesis of, also known as corpus callosum agenesis, is related to microcephaly and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Corpus Callosum, Agenesis of is ADNP (Activity Dependent Neuroprotector Homeobox). Affiliated tissues include brain, heart and eye, and related phenotypes are macrocephaly and agenesis of corpus callosum

NIH Rare Diseases : 52 Corpus callosum agenesis is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum ) is partially or completely absent. This birth defect can occur as an isolated condition or combined with other cerebral abnormalities, including Arnold-Chiari malformation , Dandy-Walker syndrome , schizencephaly (clefts or deep divisions in brain tissue ), and holoprosencephaly (failure of the forebrain to divide into lobes.) It may also occur as part of other diseases such as Aicardi syndrome , (which only affect girls, includes corpus callosum agenesis, and other problems) or Andermann syndrome or it can also be associated with malformations in other parts of the body, such as midline facial defects. Symptoms are vary from person to person. Many people with agenesis of the corpus callosum do not have any symptoms or the symptoms may range from subtle or mild to severe, depending on whether and which associated brain abnormalities are present. The exact cause is still unknown. Treatment usually involves management of symptoms and seizures if they occur.

OMIM : 56 The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis. (217990)

Wikipedia : 74 Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a... more...

Related Diseases for Corpus Callosum, Agenesis of

Diseases related to Corpus Callosum, Agenesis of via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 655, show less)
# Related Disease Score Top Affiliating Genes
1 microcephaly 29.0 MED12 FRMD4A BCL11A ARX ARID1B
2 alacrima, achalasia, and mental retardation syndrome 28.8 MED12 DHX16 ARX
3 autism 28.1 SETD2 ARX ARID1B ADNP
4 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum 12.8
5 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.7
6 agenesis of the corpus callosum and congenital lymphedema 12.7
7 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.7
8 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.7
9 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.7
10 corpus callosum, agenesis of, with abnormal genitalia 12.6
11 corpus callosum, agenesis of, with facial anomalies and robin sequence 12.5
12 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 12.5
13 corpus callosum agenesis of blepharophimosis robin type 12.5
14 bone dysplasia corpus callosum agenesis 12.5
15 diaphragmatic hernia exomphalos corpus callosum agenesis 12.5
16 facial clefting corpus callosum agenesis 12.5
17 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 12.5
18 syndrome with corpus callosum agenesis/dysgenesis as a major feature 12.5
19 genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature 12.5
20 obsolete: rare disease with corpus callosum agenesis associated with peripheral neuropathy 12.5
21 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.5
22 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 12.5
23 mirror movements 1 12.4
24 opitz-kaveggia syndrome 12.2
25 agenesis of the corpus callosum with peripheral neuropathy 12.2
26 masa syndrome 12.1
27 chudley-mccullough syndrome 12.1
28 aplasia cutis congenita, nonsyndromic 12.0
29 adrenal cortical carcinoma 12.0
30 kozlowski ouvrier syndrome 11.8
31 saal bulas syndrome 11.8
32 thrombocytopenia robin sequence 11.8
33 ben ari shuper mimouni syndrome 11.8
34 adenoid cystic carcinoma 11.8
35 microphthalmia, syndromic 11 11.8
36 temtamy syndrome 11.8
37 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.7
38 adrenal carcinoma 11.7
39 sakoda complex 11.7
40 band heterotopia 11.7
41 opitz-gbbb syndrome 11.7
42 aicardi syndrome 11.6
43 acrocallosal syndrome 11.6
44 curry-jones syndrome 11.6
45 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.5
46 calloso-genital dysplasia 11.5
47 duker weiss siber syndrome 11.5
48 spondylometaphyseal dysplasia, sedaghatian type 11.5
49 neu-laxova syndrome 1 11.5
50 linear skin defects with multiple congenital anomalies 1 11.5
51 fumarase deficiency 11.5
52 microphthalmia, syndromic 5 11.5
53 microcephaly, growth deficiency, seizures, and brain malformations 11.5
54 brain abnormalities, neurodegeneration, and dysosteosclerosis 11.5
55 8p inverted duplication/deletion syndrome 11.5
56 combined oxidative phosphorylation deficiency 2 11.5
57 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.5
58 donnai-barrow syndrome 11.5
59 lissencephaly, x-linked, 2 11.5
60 fibrosis of extraocular muscles, congenital, 1 11.4
61 linear skin defects with multiple congenital anomalies 3 11.4
62 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.4
63 desmosterolosis 11.4
64 acromelic frontonasal dysostosis 11.4
65 genitopatellar syndrome 11.4
66 orofaciodigital syndrome xiv 11.4
67 nevus comedonicus 11.4
68 1q44 microdeletion syndrome 11.4
69 orofaciodigital syndrome 12 11.4
70 acrofacial dysostosis syndrome of rodriguez 11.4
71 marden-walker syndrome 11.4
72 orofaciodigital syndrome xv 11.4
73 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 11.4
74 structural heart defects and renal anomalies syndrome 11.4
75 thakker-donnai syndrome 11.4
76 frontonasal dysplasia 1 11.3
77 oculocerebrocutaneous syndrome 11.3
78 microcephalic osteodysplastic primordial dwarfism, type i 11.3
79 craniofacial dyssynostosis with short stature 11.3
80 craniotelencephalic dysplasia 11.3
81 aicardi-goutieres syndrome 1 11.3
82 growth retardation, small and puffy hands and feet, and eczema 11.3
83 neu-laxova syndrome 2 11.3
84 microcephaly 17, primary, autosomal recessive 11.3
85 congenital disorder of glycosylation with defective fucosylation 2 11.3
86 neurodevelopmental disorder with microcephaly and structural brain anomalies 11.3
87 weiss-kruszka syndrome 11.3
88 chromosome 6q25 microdeletion syndrome 11.3
89 foxg1 syndrome 11.3
90 infantile spasms broad thumbs 11.3
91 neuronal migration disorders 11.3
92 aplasia cutis congenita with intestinal lymphangiectasia 11.3
93 epidermolysis bullosa junctionalis with pyloric atresia 11.2
94 acetyl-coa carboxylase deficiency 11.2
95 vici syndrome 11.1
96 adams-oliver syndrome 2 11.1
97 adams-oliver syndrome 11.1
98 ceruminous adenocarcinoma 11.1
99 x-linked lissencephaly with abnormal genitalia 11.1
100 acinar cell carcinoma of pancreas 11.1
101 heart valve disease 10.6
102 intermediate coronary syndrome 10.6
103 acute myocardial infarction 10.5
104 hyperlipoproteinemia, type iii 10.5
105 coronary artery anomaly 10.5
106 cardiac conduction defect 10.5
107 adrenocortical carcinoma, hereditary 10.5
108 adrenal cortical adenocarcinoma 10.5
109 pachygyria 10.4
110 ischemia 10.4
111 lipid metabolism disorder 10.4
112 hypotonia 10.4
113 arteries, anomalies of 10.4
114 syncope 10.4
115 peripheral vascular disease 10.4
116 peripheral artery disease 10.4
117 seizure disorder 10.3
118 alexithymia 10.3
119 gonadal dysgenesis 10.3
120 heart disease 10.3
121 vascular disease 10.3
122 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
123 myocardial infarction 10.3
124 atrial fibrillation 10.3
125 cardiogenic shock 10.3
126 arachnoid cysts, intracranial 10.3
127 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
128 west syndrome 10.3
129 visual epilepsy 10.3
130 polymicrogyria 10.3
131 shapiro syndrome 10.3
132 apert syndrome 10.3
133 coloboma of macula 10.3
134 septooptic dysplasia 10.3
135 down syndrome 10.3
136 chediak-higashi syndrome 10.3
137 holoprosencephaly 1 10.3
138 abnormal hair, joint laxity, and developmental delay 10.3
139 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
140 speech and communication disorders 10.3
141 sensorineural hearing loss 10.3
142 ventricular septal defect 10.3
143 corpus callosum lipoma 10.3
144 albinism 10.3
145 ring chromosome 10.3
146 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.3
147 congestive heart failure 10.3
148 hypercholesterolemia, familial, 1 10.2
149 chronic kidney disease 10.2
150 fatty liver disease 10.2
151 lipomatosis, multiple 10.2
152 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
153 periventricular nodular heterotopia 1 10.2
154 apraxia 10.2
155 porencephaly 10.2
156 pleomorphic lipoma 10.2
157 microphthalmia 10.2
158 epilepsy 10.2
159 cataract 10.2
160 cleft lip 10.2
161 cleft lip/palate 10.2
162 amyotrophic lateral sclerosis 1 10.2
163 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
164 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.2
165 neurofibromatosis, type iv, of riccardi 10.2
166 right atrial isomerism 10.2
167 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.2
168 3-methylglutaconic aciduria, type iii 10.2
169 peters-plus syndrome 10.2
170 mismatch repair cancer syndrome 10.2
171 body mass index quantitative trait locus 11 10.2
172 body mass index quantitative trait locus 9 10.2
173 branchiootic syndrome 1 10.2
174 body mass index quantitative trait locus 8 10.2
175 body mass index quantitative trait locus 4 10.2
176 body mass index quantitative trait locus 10 10.2
177 body mass index quantitative trait locus 7 10.2
178 body mass index quantitative trait locus 12 10.2
179 body mass index quantitative trait locus 14 10.2
180 body mass index quantitative trait locus 18 10.2
181 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
182 body mass index quantitative trait locus 19 10.2
183 body mass index quantitative trait locus 20 10.2
184 periventricular nodular heterotopia 10.2
185 brachydactyly 10.2
186 oculocutaneous albinism 10.2
187 aphasia 10.2
188 hypospadias 10.2
189 spastic quadriplegia 10.2
190 clubfoot 10.2
191 locked-in syndrome 10.2
192 quadriplegia 10.2
193 hypothyroidism 10.2
194 thrombocytopenia 10.2
195 ectodermal dysplasia 10.2
196 lateral sclerosis 10.2
197 craniosynostosis 10.2
198 early myoclonic encephalopathy 10.2
199 diabetes insipidus 10.2
200 lymphedema 10.2
201 greig cephalopolysyndactyly syndrome 10.2
202 strabismus 10.2
203 mechanical strabismus 10.2
204 hypertriglyceridemia, familial 10.2
205 fatty liver disease, nonalcoholic 1 10.2
206 mitral valve insufficiency 10.2
207 aortic valve insufficiency 10.2
208 chronic pain 10.2
209 saethre-chotzen syndrome 10.1
210 allergic hypersensitivity disease 10.1
211 familial hypercholesterolemia 10.1
212 hair whorl 10.1
213 li-fraumeni syndrome 10.1
214 ventricular fibrillation, paroxysmal familial, 1 10.1
215 li-fraumeni syndrome 2 10.1
216 mucositis 10.1
217 non-alcoholic fatty liver disease 10.1
218 thalassemia 10.1
219 acinar cell carcinoma 10.1
220 lynch syndrome 10.1
221 coronary stenosis 10.1
222 cerebrovascular disease 10.1
223 neuropathy 10.1
224 cytokine deficiency 10.1
225 multiple endocrine neoplasia 10.1
226 gastroesophageal reflux 10.0
227 basal cell nevus syndrome 10.0
228 cleft palate, isolated 10.0
229 coffin-siris syndrome 1 10.0
230 hirschsprung disease 1 10.0
231 hypertelorism 10.0
232 optic nerve hypoplasia, bilateral 10.0
233 neural tube defects 10.0
234 stormorken syndrome 10.0
235 telecanthus 10.0
236 joubert syndrome 1 10.0
237 corneal dystrophy, band-shaped 10.0
238 craniosynostosis with fibular aplasia 10.0
239 dandy-walker syndrome 10.0
240 mowat-wilson syndrome 10.0
241 hydrocephalus, congenital, 1 10.0
242 schizencephaly 10.0
243 coffin-lowry syndrome 10.0
244 focal dermal hypoplasia 10.0
245 orofaciodigital syndrome i 10.0
246 ataxia and polyneuropathy, adult-onset 10.0
247 fryns microphthalmia syndrome 10.0
248 microcephaly with simplified gyral pattern 10.0
249 patent ductus arteriosus 1 10.0
250 choanal atresia, posterior 10.0
251 tukel syndrome 10.0
252 cortical dysplasia, complex, with other brain malformations 7 10.0
253 mental retardation, autosomal dominant 22 10.0
254 lissencephaly 10.0
255 fetal alcohol syndrome 10.0
256 alcohol-related birth defect 10.0
257 autosomal recessive disease 10.0
258 cogan syndrome 10.0
259 scoliosis 10.0
260 myelomeningocele 10.0
261 lymphoblastic lymphoma 10.0
262 benign teratoma 10.0
263 meningocele 10.0
264 megacolon 10.0
265 conduct disorder 10.0
266 conversion disorder 10.0
267 status epilepticus 10.0
268 keratopathy 10.0
269 acromegaly 10.0
270 basal cell carcinoma 10.0
271 corneal dystrophy 10.0
272 cystic teratoma 10.0
273 epidermolysis bullosa 10.0
274 glioblastoma multiforme 10.0
275 cutis laxa 10.0
276 turner syndrome 10.0
277 mature teratoma 10.0
278 inherited metabolic disorder 10.0
279 delusional disorder 10.0
280 learning disability 10.0
281 hard palate cancer 10.0
282 dextrocardia 10.0
283 pathologic nystagmus 10.0
284 cerebellar agenesis 10.0
285 chromosome 1q deletion 10.0
286 chromosome 4q deletion 10.0
287 chromosome 8p duplication 10.0
288 congenital cytomegalovirus 10.0
289 congenital hydrocephalus 10.0
290 encephalocele 10.0
291 mosaic trisomy 8 10.0
292 precocious puberty 10.0
293 spastic paraparesis 10.0
294 isolated pierre robin sequence 10.0
295 cytomegalovirus infection 10.0
296 headache 10.0
297 obsolete: deletion 4q 10.0
298 orofacial clefting syndrome 10.0
299 supernumerary nostril 10.0
300 ciliopathy 10.0
301 syndromic macular dystrophy 10.0
302 oculomotor apraxia 10.0
303 coarctation of aorta 10.0
304 corneal dystrophy, posterior polymorphous, 1 10.0
305 duane retraction syndrome 1 10.0
306 ear malformation 10.0
307 beckwith-wiedemann syndrome 10.0
308 pilomatrixoma 10.0
309 fibromatosis, gingival, with progressive deafness 10.0
310 hemifacial atrophy, progressive 10.0
311 diaphragmatic hernia, congenital 10.0
312 opitz gbbb syndrome, type ii 10.0
313 nevus, epidermal 10.0
314 schimmelpenning-feuerstein-mims syndrome 10.0
315 pectus excavatum 10.0
316 pelger-huet anomaly 10.0
317 schizophrenia 10.0
318 split-hand/foot malformation 1 10.0
319 chromosome 2q35 duplication syndrome 10.0
320 tetralogy of fallot 10.0
321 thanatophoric dysplasia, type i 10.0
322 digeorge syndrome 10.0
323 velocardiofacial syndrome 10.0
324 c syndrome 10.0
325 cohen syndrome 10.0
326 craniosynostosis-mental retardation syndrome of lin and gettig 10.0
327 cryptorchidism, unilateral or bilateral 10.0
328 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.0
329 fryns syndrome 10.0
330 hallermann-streiff syndrome 10.0
331 hemihyperplasia, isolated 10.0
332 immune deficiency disease 10.0
333 macrocephaly/megalencephaly syndrome, autosomal recessive 10.0
334 meckel syndrome, type 1 10.0
335 mucolipidosis iv 10.0
336 epilepsy, myoclonic juvenile 10.0
337 schwartz-jampel syndrome, type 1 10.0
338 leigh syndrome 10.0
339 ocular motor apraxia 10.0
340 schinzel-giedion midface retraction syndrome 10.0
341 transcobalamin ii deficiency 10.0
342 lissencephaly, x-linked, 1 10.0
343 chromosome xp21 deletion syndrome 10.0
344 glycerol kinase deficiency 10.0
345 muscular dystrophy, duchenne type 10.0
346 retinitis pigmentosa 11 10.0
347 sacral defect with anterior meningocele 10.0
348 frontotemporal dementia 10.0
349 epilepsy, idiopathic generalized 10.0
350 charcot-marie-tooth disease, type 4c 10.0
351 polydactyly 10.0
352 camera-marugo-cohen syndrome 10.0
353 glycine encephalopathy 10.0
354 meningioma, radiation-induced 10.0
355 phace association 10.0
356 meningioma, familial 10.0
357 corneal dystrophy, posterior polymorphous, 3 10.0
358 intraocular pressure quantitative trait locus 10.0
359 chromosome 6q24-q25 deletion syndrome 10.0
360 pyruvate dehydrogenase e1-beta deficiency 10.0
361 roifman syndrome 10.0
362 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development 10.0
363 alkuraya-kucinskas syndrome 10.0
364 aspiration pneumonia 10.0
365 familial adenomatous polyposis 10.0
366 visceral heterotaxy 10.0
367 lennox-gastaut syndrome 10.0
368 ocular albinism 10.0
369 distal arthrogryposis 10.0
370 ptosis 10.0
371 umbilical hernia 10.0
372 hennekam syndrome 10.0
373 left ventricular noncompaction 10.0
374 mucolipidosis 10.0
375 hydronephrosis 10.0
376 respiratory failure 10.0
377 arteriovenous malformation 10.0
378 spinal meningioma 10.0
379 patau syndrome 10.0
380 gestational diabetes 10.0
381 synostosis 10.0
382 oligohydramnios 10.0
383 bronchopneumonia 10.0
384 tuberous sclerosis 10.0
385 osteopetrosis 10.0
386 orbital cyst 10.0
387 candidiasis 10.0
388 communicating hydrocephalus 10.0
389 facial hemiatrophy 10.0
390 hypogonadism 10.0
391 chronic mucocutaneous candidiasis 10.0
392 hemangioma 10.0
393 agammaglobulinemia 10.0
394 astrocytoma 10.0
395 grade iii astrocytoma 10.0
396 teratoma 10.0
397 syphilis 10.0
398 orofaciodigital syndrome 10.0
399 hypotrichosis 10.0
400 secretory meningioma 10.0
401 lymphoplasmacyte-rich meningioma 10.0
402 anterior horn cell disease 10.0
403 pituitary gland disease 10.0
404 paraplegia 10.0
405 bronchitis 10.0
406 combined t cell and b cell immunodeficiency 10.0
407 hepatoblastoma 10.0
408 thyroiditis 10.0
409 hypogonadotropism 10.0
410 situs inversus 10.0
411 polyhydramnios 10.0
412 narcolepsy 10.0
413 hypopituitarism 10.0
414 congenital syphilis 10.0
415 alopecia 10.0
416 muscular dystrophy 10.0
417 toxoplasmosis 10.0
418 fgfr-related craniosynostosis syndromes 10.0
419 47, xxy 10.0
420 adrenomyeloneuropathy 10.0
421 alien hand syndrome 10.0
422 bifid nose 10.0
423 childhood-onset schizophrenia 10.0
424 chromosome 6p duplication 10.0
425 congenital lymphedema 10.0
426 hemimegalencephaly 10.0
427 horseshoe kidney 10.0
428 meningoencephalocele 10.0
429 ring chromosome 22 10.0
430 lissencephaly with cerebellar hypoplasia 10.0
431 transcobalamin deficiency 10.0
432 angiomatosis 10.0
433 encephalopathy 10.0
434 infantile hypotonia 10.0
435 intracranial cysts 10.0
436 megalencephaly 10.0
437 swallowing disorders 10.0
438 tremor 10.0
439 facial cleft 10.0
440 isolated split hand-split foot malformation 10.0
441 microlissencephaly 10.0
442 cerebral visual impairment 10.0
443 congenital amyoplasia 10.0
444 renal dysplasia 10.0
445 central nervous system malformation 10.0
446 lobar holoprosencephaly 10.0
447 gilles de la tourette syndrome 10.0
448 laryngomalacia 10.0
449 moebius syndrome 10.0
450 noonan syndrome 1 10.0
451 wilms tumor 1 10.0
452 anus, imperforate 10.0
453 baller-gerold syndrome 10.0
454 pierre robin syndrome 10.0
455 retinitis pigmentosa 10.0
456 thrombocytopenia-absent radius syndrome 10.0
457 toe syndactyly, telecanthus, and anogenital and renal malformations 10.0
458 corpus callosum, partial agenesis of, x-linked 10.0
459 microcephaly 3, primary, autosomal recessive 10.0
460 lissencephaly 1 10.0
461 chromosome 16p13.3 deletion syndrome, proximal 10.0
462 chromosome 1q41-q42 deletion syndrome 10.0
463 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.0
464 combined d-2- and l-2-hydroxyglutaric aciduria 10.0
465 myasthenic syndrome, congenital, 23, presynaptic 10.0
466 primary microcephaly 10.0
467 neuroretinitis 10.0
468 neurogenic bladder 10.0
469 entropion 10.0
470 hypertrophic pyloric stenosis 10.0
471 pyloric stenosis 10.0
472 dementia 10.0
473 facial paralysis 10.0
474 leopard syndrome 10.0
475 psychotic disorder 10.0
476 retinitis 10.0
477 lactic acidosis 10.0
478 double outlet right ventricle 10.0
479 skin tag 10.0
480 mitochondrial metabolism disease 10.0
481 peritonitis 10.0
482 nervous system disease 10.0
483 rubella 10.0
484 meningitis 10.0
485 refractive error 10.0
486 fumarate hydratase deficiency 10.0
487 mitochondrial disorders 10.0
488 tubulinopathies 10.0
489 wdr26-related intellectual disability 10.0
490 aberrant subclavian artery 10.0
491 cerebellar hypoplasia 10.0
492 chromosome 11q duplication 10.0
493 colpocephaly 10.0
494 congenital hypopituitarism 10.0
495 pseudo-turner syndrome 10.0
496 ring chromosome 6 10.0
497 sirenomelia 10.0
498 febrile seizures 10.0
499 spasticity 10.0
500 progeroid syndrome 10.0
501 epignathus 10.0
502 early-onset schizophrenia 10.0
503 breast cancer 10.0
504 multiple endocrine neoplasia, type i 10.0
505 body mass index quantitative trait locus 1 10.0
506 coronary heart disease 1 10.0
507 anxiety 10.0
508 brugada syndrome 10.0
509 infective endocarditis 10.0
510 endocarditis 10.0
511 charcot-marie-tooth disease 10.0
512 heart septal defect 10.0
513 atrial heart septal defect 10.0
514 sensory peripheral neuropathy 10.0
515 benign mesothelioma 10.0
516 peripheral nervous system disease 10.0
517 adenoma 10.0
518 malignant pleural mesothelioma 10.0
519 osteoarthritis 10.0
520 rare tumor 10.0
521 atherosclerosis susceptibility 9.9
522 atrial standstill 1 9.9
523 colorectal cancer 9.9
524 cardiac arrhythmia 9.9
525 sarcoidosis 1 9.9
526 alpha-thalassemia 9.9
527 major depressive disorder 9.9
528 cyanosis, transient neonatal 9.9
529 beta-thalassemia 9.9
530 hypophosphatemia 9.9
531 atrioventricular block 9.9
532 salivary gland carcinoma 9.9
533 dextro-looped transposition of the great arteries 9.9
534 non-alcoholic steatohepatitis 9.9
535 borderline personality disorder 9.9
536 neutropenia 9.9
537 personality disorder 9.9
538 rheumatic disease 9.9
539 mental depression 9.9
540 enthesopathy 9.9
541 iron metabolism disease 9.9
542 adenocarcinoma 9.9
543 mood disorder 9.9
544 tricuspid valve insufficiency 9.9
545 liver disease 9.9
546 kidney disease 9.9
547 hypertrophic cardiomyopathy 9.9
548 congenitally corrected transposition of the great arteries 9.9
549 double discordia 9.9
550 depression 9.9
551 aneurysm 9.9
552 back pain 9.9
553 overuse syndrome 9.9
554 cerebral creatine deficiency syndrome 1 9.8 ARX ADNP
555 aortic aneurysm, familial abdominal, 1 9.8
556 acrocephalopolysyndactyly type iii 9.8
557 alcohol dependence 9.8
558 anal canal carcinoma 9.8
559 bladder cancer 9.8
560 carpal tunnel syndrome 9.8
561 coumarin resistance 9.8
562 hand skill, relative 9.8
563 attention deficit-hyperactivity disorder 9.8
564 systemic lupus erythematosus 9.8
565 mesothelioma, malignant 9.8
566 ovarian cancer 9.8
567 varicose veins 9.8
568 williams-beuren syndrome 9.8
569 lung cancer 9.8
570 hypoparathyroidism-retardation-dysmorphism syndrome 9.8
571 asplenia, isolated congenital 9.8
572 squamous cell carcinoma, head and neck 9.8
573 resting heart rate, variation in 9.8
574 slowed nerve conduction velocity, autosomal dominant 9.8
575 phobia, specific 9.8
576 major affective disorder 8 9.8
577 major affective disorder 9 9.8
578 hydrops, lactic acidosis, and sideroblastic anemia 9.8
579 helix syndrome 9.8
580 deficiency anemia 9.8
581 pulmonary hypertension 9.8
582 arrhythmogenic right ventricular cardiomyopathy 9.8
583 exanthem 9.8
584 sleep apnea 9.8
585 autism spectrum disorder 9.8
586 cardiac arrest 9.8
587 catecholaminergic polymorphic ventricular tachycardia 9.8
588 thrombosis 9.8
589 pre-eclampsia 9.8
590 glucose intolerance 9.8
591 premature menopause 9.8
592 hydrocephalus 9.8
593 polycystic ovary syndrome 9.8
594 iron deficiency anemia 9.8
595 graves' disease 9.8
596 hypochondriasis 9.8
597 cardiac sarcoidosis 9.8
598 eclampsia 9.8
599 polyneuropathy 9.8
600 generalized anxiety disorder 9.8
601 squamous cell carcinoma 9.8
602 melanoma 9.8
603 hyperuricemia 9.8
604 cerebral palsy 9.8
605 rectum cancer 9.8
606 hyperinsulinism 9.8
607 post-traumatic stress disorder 9.8
608 transient cerebral ischemia 9.8
609 hemoglobinopathy 9.8
610 vaccinia 9.8
611 bipolar disorder 9.8
612 aortic aneurysm 9.8
613 glucose metabolism disease 9.8
614 hyperglycemia 9.8
615 myopathy 9.8
616 pleomorphic adenoma 9.8
617 mucoepidermoid carcinoma 9.8
618 holoprosencephaly 9.8
619 tubular adenocarcinoma 9.8
620 subvalvular aortic stenosis 9.8
621 hemolytic anemia 9.8
622 agoraphobia 9.8
623 panic disorder 9.8
624 acute stress disorder 9.8
625 severe combined immunodeficiency 9.8
626 lung disease 9.8
627 lupus erythematosus 9.8
628 central sleep apnea 9.8
629 priapism 9.8
630 diastolic heart failure 9.8
631 irritable bowel syndrome 9.8
632 substance dependence 9.8
633 hypoglycemia 9.8
634 47,xyy 9.8
635 48,xyyy 9.8
636 chromosomal triplication 9.8
637 dwarfism 9.8
638 hypoparathyroidism-intellectual disability-dysmorphism syndrome 9.8
639 pure autonomic failure 9.8
640 stenotrophomonas maltophilia infection 9.8
641 tetraploidy 9.8
642 triploidy 9.8
643 anoxia 9.8
644 brain injury 9.8
645 dysphagia 9.8
646 fainting 9.8
647 multicystic dysplastic kidney 9.8
648 rapidly involuting congenital hemangioma 9.8
649 obsolete: sakati-nyhan syndrome 9.8
650 chronic enteropathy associated with slco2a1 gene 9.8
651 homozygous familial hypercholesterolemia 9.8
652 obsolete: squamous cell carcinoma of head and neck 9.8
653 argyria 9.8
654 non-syndromic intellectual disability 9.7 ARX ARID1B ADNP
655 blepharophimosis 9.6 MED12 ARID1B ADNP

Graphical network of the top 20 diseases related to Corpus Callosum, Agenesis of:



Diseases related to Corpus Callosum, Agenesis of

Symptoms & Phenotypes for Corpus Callosum, Agenesis of

Human phenotypes related to Corpus Callosum, Agenesis of:

31 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 agenesis of corpus callosum 31 HP:0001274
3 frontal bossing 31 HP:0002007
4 intellectual disability 31 HP:0001249
5 microcephaly 31 HP:0000252
6 prominent forehead 31 HP:0011220
7 growth delay 31 HP:0001510
8 preauricular skin tag 31 HP:0000384
9 camptodactyly 31 HP:0012385
10 joint contracture of the hand 31 HP:0009473

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
macrocephaly
microcephaly
prominent forehead
preauricular skin tag
mental retardation
more
Limbs:
camptodactyly

Misc:
recurrent bronchopneumonia
death under 3 years

Neuro:
agenesis of corpus callosum

Growth:
retardation

Clinical features from OMIM:

217990

GenomeRNAi Phenotypes related to Corpus Callosum, Agenesis of according to GeneCards Suite gene sharing:

26 (showing 4, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.23 SETD2
2 Increased Nanog expression GR00371-A-2 9.23 SETD2
3 Increased Nanog expression GR00371-A-4 9.23 BCL11A SETD2
4 Increased Nanog expression GR00371-A-5 9.23 ADNP BCL11A MED12 SETD2

MGI Mouse Phenotypes related to Corpus Callosum, Agenesis of:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.56 ADNP ARID1B ARX BCL11A DCC DHX16
2 nervous system MP:0003631 9.17 ADNP ARID1B ARX BCL11A DCC MED12

Drugs & Therapeutics for Corpus Callosum, Agenesis of

Interventional clinical trials:

(showing 11, show less)
# Name Status NCT ID Phase Drugs
1 Phase 1 Pilot Study of Bioengineered Penile Tissue Constructs in Subjects With Irreversibly Damaged Penile Corpora Not yet recruiting NCT03463239 Phase 1
2 BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal Unknown status NCT02826824
3 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
4 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
5 Corpus Callosum Agenesis and Intellectual Disability: Genetic and Phenotypic Characterization Completed NCT02167568
6 Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum Recruiting NCT03600792
7 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651
8 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305
9 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411
10 Genetic Analysis of Brain Disorders Recruiting NCT00645645
11 Outcome of Infants With Prenatal Corpus Callosum Agenesis Active, not recruiting NCT02267161

Search NIH Clinical Center for Corpus Callosum, Agenesis of

Genetic Tests for Corpus Callosum, Agenesis of

Genetic tests related to Corpus Callosum, Agenesis of:

# Genetic test Affiliating Genes
1 Corpus Callosum Agenesis 29
2 Agenesis of Corpus Callosum 29

Anatomical Context for Corpus Callosum, Agenesis of

MalaCards organs/tissues related to Corpus Callosum, Agenesis of:

40
Brain, Heart, Eye, Skin, Retina, Kidney, Liver

Publications for Corpus Callosum, Agenesis of

Articles related to Corpus Callosum, Agenesis of:

(showing 321, show less)
# Title Authors PMID Year
1
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. 56
26197979 2016
2
Identification of genomic loci contributing to agenesis of the corpus callosum. 56
20683985 2010
3
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. 56
18792984 2008
4
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 56
9863602 1998
5
Agenesis of corpus callosum in three sibs. 56
9560954 1997
6
Agenesis of the corpus callosum in a mother and son. 56
9056551 1997
7
Absence makes the search grow longer. 56
8554070 1996
8
Delineation of the da-Silva syndrome. 56
8209892 1994
9
Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. 56
3400727 1988
10
Agenesis of the corpus callosum and macrocephaly in siblings. 56
3905089 1985
11
Familial agenesis of the corpus callosum with hypothermia and apneic spells. 56
6738818 1984
12
Agenesis of the corpus callosum. 56
7387492 1980
13
Agenesis of the corpus callosum in two sisters. 56
4204338 1973
14
Agenesis of the corpus callosum; a report of two cases in siblings. 56
14397896 1955
15
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]. 54 61
18808783 2008
16
Genetic malformations of cortical development. 54 61
16724181 2006
17
Neuronal migration disorders, genetics, and epileptogenesis. 54 61
15921228 2005
18
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. 61
31843706 2020
19
Congenital meningocele associated with corpus callosum agenesis and midline superior labial cleft due to Tessier 0-14 facial fissure: A case report. 61
31706112 2020
20
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. 61
32022998 2020
21
De Novo ARID1B Mutations Cause Growth Delay Associated with Aberrant Wnt/β-Catenin Signaling. 61
31981384 2020
22
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation. 61
31821167 2020
23
Radiological Findings on Structural Magnetic Resonance Imaging in Fetal Alcohol Spectrum Disorders and Healthy Controls. 61
31840819 2019
24
Anterior and posterior commissures in agenesis of the corpus callosum: Alternative pathways for attention processes? 61
31731212 2019
25
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. 61
31793730 2019
26
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 61
31130048 2019
27
Cervicothoracic Spinal Dysraphism: Unravelling the Pandora's Box. 61
31908661 2019
28
Intracranial cystic lesions and polydactyly associated with acrocallosal syndrome: Sonographic findings in two cases. 61
31318057 2019
29
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. 61
31585109 2019
30
Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation. 61
31966034 2019
31
Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. 61
31273213 2019
32
Corpus callosum agenesis with interhemispheric cyst: a neuroimage to remember. 61
31345835 2019
33
Corpus Callosum Agenesis: Neuroanatomical Model of Autism Spectrum Disorder? 61
31142933 2019
34
Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies. 61
31035852 2019
35
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. 61
30894326 2019
36
Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study. 61
30792247 2019
37
Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. 61
31976095 2019
38
Corpus callosum agenesis and clinically isolated syndrome (CIS): A case report. 61
30472413 2019
39
FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections. 61
30392794 2018
40
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. 61
30244529 2018
41
Chronic Hyponatremia Due to the Syndrome of Inappropriate Antidiuresis (SIAD) in an Adult Woman with Corpus Callosum Agenesis (CCA). 61
30416193 2018
42
Congenital Hydrocephalus, Corpus Callosum Agenesis, and Prosencephalic Cyst with Supernumerary Nostril: A Neurocristopathy. 61
30459905 2018
43
Schizencephaly: A Review of 734 Patients. 61
30501885 2018
44
Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case. 61
30983739 2018
45
The third ventricle of the human fetal brain: Normative data and pathologic correlation. A 3D transvaginal neurosonography study. 61
29858521 2018
46
SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND. 61
31149275 2018
47
Early asymmetric inter-hemispheric transfer in the auditory network: insights from infants with corpus callosum agenesis. 61
29687282 2018
48
Anesthetic Management in Corpus Callosum Agenesis. 61
30283190 2018
49
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription. 61
29648665 2018
50
Is the presence of corpus callosum predictable in the first trimester? 61
29017365 2018
51
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses. 61
29193896 2018
52
Grip and slip of L1-CAM on adhesive substrates direct growth cone haptotaxis. 61
29483251 2018
53
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. 61
29356264 2018
54
How does pregnancy affect the patients with pituitary adenomas: a study on 113 pregnancies from Turkey. 61
28634705 2018
55
Cystic Cervical Dysraphism: Experience of 12 Cases. 61
29899770 2018
56
Central nervous system anomalies in craniofacial microsomia: a systematic review. 61
28736116 2018
57
Partial corpus callosal agenesis with ventriculomegaly and sulcal anomaly in a 10-year-old child. 61
29676349 2018
58
Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review. 61
29191162 2017
59
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. 61
29136349 2017
60
Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature. 61
28562508 2017
61
A newborn with monosomy X in association with corpus callosum agenesis. 61
28117231 2017
62
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. 61
28695822 2017
63
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. 61
27831545 2017
64
K+ Channel Kv3.4 Is Essential for Axon Growth by Limiting the Influx of Ca2+ into Growth Cones. 61
28320840 2017
65
Vedolizumab exposure in pregnancy: outcomes from clinical studies in inflammatory bowel disease. 61
28169436 2017
66
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation. 61
28168853 2017
67
Agenesis of retinal vessels in a newborn with central nervous system developmental abnormality. 61
27018276 2017
68
Delusional Disorder in a Patient with Corpus Callosum Agenesis. 61
28208982 2016
69
Neuroimaging findings of Zika virus infection: a review article. 61
27714487 2016
70
Fetal Neurosonogaphy: Ultrasound and Magnetic Resonance Imaging in Competition. 61
27978593 2016
71
Intracranial interhemispheric osteochondrolipoma: Diagnostic and surgical challenges in an extremely rare entity. 61
27195706 2016
72
Chiari type 1 malformation, corpus callosum agenesis and patent craniopharyngeal canal in an 11-year-old boy. 61
27329972 2016
73
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. 61
27346851 2016
74
Central nervous system and cervical spine abnormalities in Apert syndrome. 61
26861132 2016
75
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 61
26732629 2016
76
Detection of Fetal Corpus Callosum Abnormalities by Means of 3D Ultrasound. 61
26529353 2016
77
Hartsfield Syndrome 61
26937548 2016
78
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate. 61
25944382 2016
79
AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM. 61
30204965 2016
80
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay. 61
27486480 2016
81
Successful hemispherotomy for a patient with intractable epilepsy secondary to bilateral congenital brain malformation with lateralized pyramidal tract of diffusion tensor image tractography. 61
27453818 2016
82
Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly. 61
26701010 2015
83
Morning glory disc anomaly in childhood - a population-based study. 61
26173377 2015
84
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation. 61
26126960 2015
85
Choroid plexus separation in fetuses without ventriculomegaly: Natural course and postnatal outcome. 61
25944024 2015
86
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 61
26168268 2015
87
Agenesis of the Corpus Callosum and Generalized Epilepsy. 61
24997010 2015
88
Disrupted developmental organization of the structural connectome in fetuses with corpus callosum agenesis. 61
25725467 2015
89
[Analysis of clinical outcome and impact factors of twin-to-twin transfusion syndrome with anterior placenta treated by fetoscopic laser photocoagulation]. 61
26311450 2015
90
See-through Brains and Diffusion Tensor MRI Clarified Fiber Connections: A Preliminary Microstructural Study in a Mouse with Callosal Agenesis. 61
25833270 2015
91
CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33. 61
26852509 2015
92
New human-specific brain landmark: the depth asymmetry of superior temporal sulcus. 61
25583500 2015
93
[Pediatric neurofunctional intervention in agenesis of the corpus callosum: a case report]. 61
25479858 2014
94
Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. 61
24594427 2014
95
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? 61
24657013 2014
96
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 61
25059107 2014
97
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. 61
24193349 2014
98
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 61
24860126 2014
99
Transient and permanent neuroimaging abnormalities due to partial status epilepticus in a patient with corpus callosum agenesis. 61
24728336 2014
100
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. 61
24664088 2014
101
Nasal septal lipoma in a child: Pai syndrome or not? 61
24560239 2014
102
C5orf42 is the major gene responsible for OFD syndrome type VI. 61
24178751 2014
103
Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter. 61
24393711 2014
104
Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility. 61
24284070 2014
105
[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma]. 61
25188659 2014
106
Vertex cephaloceles: a review. 61
23989428 2014
107
Bart's Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia. 61
25657775 2014
108
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities. 61
24027040 2013
109
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases. 61
23820807 2013
110
Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children. 61
24379556 2013
111
Interfrontal encephalocele: a rare feature of forehead in hydrocephalic myelomeningocele patients. Clinical feature, probable mechanisms, and management. 61
23864232 2013
112
[Ultrasonography and magnetic resonance imaging for diagnosis of neonatal agenesis of the corpus callosum: a comparative study]. 61
23996778 2013
113
Serial fetal MRI for the diagnosis of Aicardi syndrome. 61
24007726 2013
114
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. 61
23317684 2013
115
[The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis]. 61
24257358 2013
116
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. 61
23466526 2013
117
Shapiro syndrome. 61
24640213 2013
118
Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate? 61
23355017 2013
119
Assessment of pericallosal arteries by color Doppler ultrasonography at 11-14 weeks: an early marker of fetal corpus callosum development in normal fetuses and agenesis in cases with chromosomal anomalies. 61
23774062 2013
120
Diffuse malformations of cortical development. 61
23622213 2013
121
Disorders of pyruvate metabolism. 61
23622387 2013
122
Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics. 61
23724134 2013
123
Anatomical and electrophysiological manifestations in a patient with congenital corpus callosum agenesis. 61
22914988 2013
124
Diagnosis, treatment, and long-term outcomes of fetal hydrocephalus. 61
23089488 2012
125
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. 61
23125460 2012
126
Imaging of pediatric pituitary endocrinopathies. 61
23087850 2012
127
Hypothermia and corpus callosum agenesis in Shapiro syndrome: too cold, even for a Viking. 61
22927684 2012
128
[Congenital cytomegaly in one twin - a case report]. 61
23378403 2012
129
Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum. 61
22414029 2012
130
A case of periodic fever with corpus callosum agenesis: reverse Shapiro's syndrome. 61
23248704 2012
131
Role of foetal MRI in the evaluation of ischaemic-haemorrhagic lesions of the foetal brain. 61
22752774 2012
132
Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report. 61
21834622 2012
133
Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?). 61
22430728 2012
134
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome. 61
22462673 2012
135
Preserved interhemispheric functional connectivity in a case of corpus callosum agenesis. 61
21553342 2012
136
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. 61
22095910 2012
137
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. 61
23243526 2012
138
Complete corpus callosum agenesis: can it be mild? 61
22973527 2012
139
Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction. 61
22212331 2011
140
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. 61
21882292 2011
141
Prevalence and timing of pregnancy termination for brain malformations. 61
21252198 2011
142
[Aicardi syndrome associated with severe congenital ptosis]. 61
21820292 2011
143
[Mowat-Wilson syndrome: a report of three Danish cases]. 61
21893004 2011
144
Morphological evaluation of lateral ventricles of fetuses with ventriculomegaly by three-dimensional ultrasonography and magnetic resonance imaging: correlation with etiology. 61
20830480 2011
145
Prenatal MR diffusion tractography in a fetus with complete corpus callosum agenesis. 61
21739404 2011
146
Cerebellum enlargement and corpus callosum agenesis: a longitudinal case report. 61
21610173 2011
147
Atypical case of congenital maxillomandibular fusion with duplication of the craniofacial midline. 61
22655122 2011
148
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. 61
21416597 2011
149
Spontaneous periodic hypothermia and hyperhidrosis: a possibly novel cerebral neurotransmitter disorder. 61
21166673 2011
150
Magnetic resonance imaging of intracranial malformations in dogs and cats. 61
21392155 2011
151
A case of an epignathus with intracranial extension appearing as a persistently open mouth at 16 weeks and subsequently diagnosed at 20 weeks of gestation. 61
21387329 2011
152
Episodic hyperhydrosis with corpus callosum agenesis: a rare case of Shapiro syndrome. 61
21339684 2011
153
An unusual association of corpus callosum agenesis in a patient with acromegaly. 61
22802364 2010
154
A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis. 61
20880309 2010
155
Corpus callosum agenesis and rehabilitative treatment. 61
20849621 2010
156
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. 61
20624500 2010
157
Brain abnormalities on MR imaging in patients with retinoblastoma. 61
20413604 2010
158
Ocular findings in pediatric patients with partial agenesis of corpus callosum. 61
19791713 2010
159
Mutations affecting GABAergic signaling in seizures and epilepsy. 61
20352446 2010
160
[Language disorders in children with morphologic abnormalities of the hippocampus]. 61
20409697 2010
161
Assessment of sulcation of the fetal brain in cases of isolated agenesis of the corpus callosum using in utero MR imaging. 61
20093312 2010
162
Agenesis of the corpus callosum in fetuses with mild ventriculomegaly: role of MR imaging. 61
20017009 2010
163
[Impact of prenatal corpus callosum agenesis diagnosis on pregnancy outcome. Evaluation of 155 cases between 2000 and 2006]. 61
20117919 2010
164
Human genetic disorders of axon guidance. 61
20300212 2010
165
dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome. 61
19763090 2010
166
Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. 61
20420025 2010
167
Prenatal diagnosis of partial monosomy 1q (1q42.3-qter) associated with hydrocephalus and corpus callosum agenesis. 61
21290974 2010
168
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. 61
19842196 2009
169
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 61
19770472 2009
170
Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis. 61
19610112 2009
171
A case of corpus callosum agenesis presenting with recurrent brief depression. 61
21938102 2009
172
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. 61
19363806 2009
173
Disorders of prosencephalic development. 61
19184971 2009
174
Pattern of childhood neuronal migrational disorders in Oman. 61
21048602 2009
175
Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 61
19170718 2009
176
Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. 61
19116813 2009
177
Spontaneous periodic hypothermia and hyperhidrosis. 61
19027594 2008
178
Commissural malformations: beyond the corpus callosum. 61
18692242 2008
179
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 61
18627055 2008
180
Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation. 61
18555175 2008
181
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 61
18178631 2008
182
Inherited 18q23 duplication in a fetus with multiple congenital anomalies. 61
18282818 2008
183
Oculocerebrocutaneous syndrome. 61
18524200 2008
184
Myelolipomatous change in an interhemispheric lipoma associated with corpus callosum agenesis: case report. 61
18425000 2008
185
Persistently raised thyroid stimulating hormone in adequately treated congenital hypothyroidism on long-term follow-up. 61
18540252 2008
186
Rhizomelia with anal atresia and anophthalmia: a new syndrome? 61
18049082 2008
187
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis. 61
18053786 2008
188
A Female Child with Corpus Callosum agenesis and infantile spasm. 61
22567214 2008
189
Prenatal and postnatal follow-up of a fetal interhemispheric arachnoid cyst with partial corpus callosum agenesis, asymmetric ventriculomegaly and localized polymicrogyria. Case report. 61
18957852 2008
190
In utero exposure to mycophenolate mofetil: a characteristic phenotype? 61
18074358 2008
191
An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. 61
18618999 2008
192
Aicardi syndrome with favorable outcome: case report and review. 61
17207597 2007
193
Bilateral temporal arachnoid cysts associated with tuberous sclerosis complex. 61
17641270 2007
194
Congenital cytomegalovirus infection associated with corpus callosum agenesis. 61
17437918 2007
195
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. 61
17353897 2007
196
Hamartoma on the hard palate associated with corpus callosum agenesis, microphthalmia, and skin malformation. 61
17307607 2007
197
MR demonstration of complete cerebellar and corpus callosum agenesis. 61
17190985 2007
198
Gene expression analysis of nuclear factor I-A deficient mice indicates delayed brain maturation. 61
17475010 2007
199
Pattern of childhood epilepsies with neuronal migrational disorders in Oman. 61
17092459 2006
200
Aicardi syndrome: chorioretinal lacunae without corpus callosum agenesis. 61
17031307 2006
201
Callosal agenesis and Open lip Schizencephaly. 61
17006047 2006
202
Neuroendoscopic management of interhemispheric cysts in children. 61
16970232 2006
203
[Focus on Dandy-Walker malformation]. 61
17088715 2006
204
Anterior encephaloceles: a series of 103 cases over 32 years. 61
16679016 2006
205
Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8. 61
16773506 2006
206
Is interhemispheric arachnoid cyst with corpus callosum agenesis related to cavum vergae cyst? 61
17425161 2006
207
First characterization of a large deletion of the PDHA 1 gene. 61
16256390 2005
208
[Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis]. 61
16319772 2005
209
A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies. 61
16138255 2005
210
Subtotal corpus callosum agenesis with recurrent hyperhidrosis-hypothermia (Shapiro syndrome). 61
16009897 2005
211
Idiom comprehension deficits in relation to corpus callosum agenesis and hypoplasia in children with spina bifida meningomyelocele. 61
15862859 2005
212
Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. 61
15849798 2005
213
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. 61
16053913 2005
214
Spectrum of corpus callosum agenesis. 61
15664768 2005
215
Peripersonal spatial attention in children with spina bifida: associations between horizontal and vertical line bisection and congenital malformations of the corpus callosum, midbrain, and posterior cortex. 61
15893777 2005
216
[Partial corpus callosum agenesis]. 61
15602414 2004
217
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. 61
15365465 2004
218
Anatomical functional changes in a patient presenting a complex malformation of cortical development. 61
15358963 2004
219
Major brain lesions detected on sonographic screening of apparently normal term neonates. 61
15103432 2004
220
[Isolated familial corpus callosum agenesis prognosis]. 61
15135425 2004
221
L1 Syndrome 61
20301657 2004
222
[Unilateral open lip schizencephaly between central sulcus and third ventricle]. 61
15054697 2004
223
Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. 61
14679590 2004
224
Report of two Turkish infants with Norman-Roberts syndrome. 61
15083694 2004
225
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). 61
14681759 2003
226
Toriello-Carey syndrome: delineation and review. 61
14556252 2003
227
[Neurosurgical Embryology. Part 3: Molecular control of corpus callosum development]. 61
14526255 2003
228
Dandy-Walker malformation: prenatal diagnosis and prognosis. 61
12879343 2003
229
[Corpus callosum agenesis]. 61
12717644 2003
230
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. 61
12444108 2002
231
Defects of pyruvate metabolism and the Krebs cycle. 61
12597053 2002
232
Adult atretic parietal cephalocele. 61
12391465 2002
233
The effect of corpus callosum agenesis on neocortical thickness and neuronal density of BALB/cCF mice. 61
12183019 2002
234
Clinical, neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis. 61
12131936 2002
235
The neural cell adhesion molecule L1 potentiates integrin-dependent cell migration to extracellular matrix proteins. 61
12077189 2002
236
[Value of fetal cerebral magnetic resonance imaging for the prenatal diagnosis and prognosis of corpus callosum agenesis]. 61
12016416 2002
237
Joubert syndrome with associated corpus callosum agenesis. 61
11993957 2002
238
Lethal X-linked microcephaly with dysmorphic features, bilateral optic pathway aplasia and normal eyes. 61
11603816 2001
239
Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)]. 61
11471169 2001
240
Congenital hereditary endothelial dystrophy and band keratopathy in an infant with corpus callosum agenesis. 61
11413417 2001
241
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. 61
11438951 2001
242
Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature. 61
11392528 2001
243
[Fetal magnetic resonance]. 61
11321983 2001
244
[Corpus callosum agenesis]. 61
11462533 2001
245
Corpus callosum agenesis. 61
24185229 2001
246
Corpus callosum agenesis. 61
11255605 2001
247
Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report. 61
11124640 2000
248
Hippocampal malrotation with normal corpus callosum: a new entity? 61
10872153 2000
249
Role of cholesterol in embryonic development. 61
10799401 2000
250
Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus. 61
10805190 2000
251
Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? 61
10936989 2000
252
Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. 61
10521839 1999
253
Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice. 61
10366625 1999
254
Agenesis of corpus callosum - a rare case. 61
10734328 1999
255
[Corpus callosum agenesis and epileptic seizures]. 61
10778480 1999
256
[Agenesis of the corpus callosum. An example of prognosis uncertainty in fetal medicine]. 61
10021992 1998
257
Paradoxically greater interhemispheric transfer deficits in partial than complete callosal agenesis. 61
9845048 1998
258
[Prenatal MRI of corpus callosum agenesis. Study of 20 cases with neuropathological correlations]. 61
9757293 1998
259
[Obstetrical management of agenesis of the corpus callosum]. 61
9757328 1998
260
[Histogenesis of the corpus callosum]. 61
9757325 1998
261
[Prenatal diagnosis of anomalies of the corpus callosum with ultrasound: the echographist's point of view]. 61
9757327 1998
262
[Prognosis of isolated agenesis of the corpus callosum]. 61
9757329 1998
263
[Agenesis of the corpus callosum. Neuropathologic study and physiopathologic hypotheses]. 61
9757326 1998
264
[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family]. 61
9759159 1998
265
Deletion of chromosome 3q proximal region gives rise to a variable phenotype. 61
9630079 1998
266
Prenatal diagnosis of fetal corpus callosum agenesis by ultrasonography and magnetic resonance imaging. 61
9556041 1998
267
The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu. 61
9479034 1998
268
Interhemispheric lipoma associated with subcutaneous lipoma. 61
9569337 1998
269
[Prenatal MRI of the brain. Retrospective study apropos of 34 tests]. 61
9296030 1997
270
[Neuroimagings in neuronal migration disorders]. 61
9071189 1997
271
Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association? 61
9150845 1997
272
Proton magnetic resonance spectroscopy of a gray matter heterotopia. 61
8960748 1996
273
[Neurofibromatosis type I (NF1): peculiarities and complications]. 61
8755343 1996
274
Agenesis of the corpus callosum: female monozygotic triplets. Case report. 61
8683266 1996
275
[Aicardi syndrome and choroid plexus papilloma: a rare association. Case report]. 61
8984993 1996
276
[Corpus callosum agenesis and parasagittal interhemispheric cyst]. 61
8763667 1996
277
Antenatal ultrasonographic findings differentiating complete from partial agenesis of the corpus callosum. 61
8633659 1996
278
Diagnostic strategies in pediatric imaging. 61
8950615 1996
279
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. 61
7645588 1995
280
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. 61
8556302 1995
281
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. 61
7894733 1994
282
Formation and lateralization of internal representations underlying motor commands during precision grip. 61
8084414 1994
283
Corpus callosum agenesis and epilepsy: PET findings. 61
8060424 1994
284
Corpus callosum agenesis in Coffin-Lowry syndrome. 61
8031540 1994
285
Magnetic resonance imaging of the fetus: a study of 20 cases performed without curarization. 61
8278309 1993
286
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. 61
8352855 1993
287
Aicardi syndrome: a variant example with new clinical findings. 61
8110415 1993
288
Tactile naming disorder of the left hand in two cases with corpus callosum agenesis. 61
8449381 1993
289
Corpus callosum agenesis in two male infants of a heterozygotic triplet pregnancy. 61
7505592 1993
290
The Wolf-Hirschhorn syndrome in fetuses. 61
1493641 1992
291
Spectrum of neural-tube defects in 34 infants prenatally exposed to antiepileptic drugs. 61
1574164 1992
292
Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). 61
1733166 1992
293
Agenesis of the corpus callosum and epilepsy in two brothers. Neurophysiological and MRI features. 61
1604874 1992
294
Corpus callosum agenesis and psychosis in Andermann syndrome. 61
1668979 1991
295
Unusual presentation of gastroesophageal reflux with corpus callosum agenesis, cleft palate and mental retardation. 61
1808058 1991
296
[Corpus callosum agenesis. Interhemispheric integration of semantic information]. 61
1749453 1991
297
Complex sensory cross integration deficits in a case of corpus callosum agenesis with bilateral language representation: positron-emission-tomography and neuropsychological findings. 61
1365050 1991
298
Corpus callosum agenesis and uncinate seizures. 61
2387825 1990
299
Prenatal echographic diagnosis of corpus callosum agenesis. The Nancy experience 1982-1989. 61
2080996 1990
300
Corpus callosum agenesis, spastic quadriparesis and irregular lining of the lateral ventricles on CT-scan. A distinct X-linked mental retardation syndrome? 61
2081003 1990
301
[Ultrasonic diagnosis of agenesis of the corpus callosum]. 61
2664642 1989
302
[Corpus callosum agenesis and associated malformations]. 61
2642710 1989
303
Psychosis in a case of corpus callosum agenesis. 61
3239532 1988
304
Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome? 61
3223497 1988
305
Ocular malformations and lissencephaly. 61
3119342 1987
306
Benomyl-induced craniocerebral anomalies in fetuses of adequately nourished and protein-deprived rats. 61
2888215 1987
307
[Cerebral ultrasound diagnosis in brain abnormalities]. 61
3796635 1986
308
A Golgi study of the polymicrogyric cortex in Aicardi syndrome. 61
3799920 1986
309
[Congenital oculomotor apraxia with corpus callosum agenesis and subtentorial atrophy]. 61
3726390 1986
310
[Corpus callosum agenesis and epilepsy in 2 brothers]. 61
6418513 1983
311
[Fronto-nasal dysplasia (apropos of 4 cases)]. 61
6674411 1983
312
["Essential hypernatremia" as a result of on increased osmoreceptor threshold in a boy with Pierre-Robin disease and corpus callosum agenesis]. 61
6856320 1983
313
Computed tomographic evaluation of corpus callosum agenesis and associated malformations. 61
6984379 1982
314
Abnormal dynamic brain scan in corpus callosum agenesis. 61
6970108 1981
315
Familial corpus callosum agenesis. 61
757840 1978
316
Impaired sensory and motor differentiation with corpus callosum agenesis: a lack of callosal inhibition during ontogeny? 61
995239 1976
317
Structural organization of 'callosal' OBg in human corpus callosum agenesis. 61
1174969 1975
318
[The vascular picture in corpus callosum agenesis in connection with additional brain abnormalities]. 61
5733144 1968
319
[Agenesis of the corpus callosum. Report on clinical findings, pathomorphology and pathophysiology of the previously published and 33 own cases of corpus callosum agenesis and their differential diagnosis]. 61
5305850 1968
320
[EEG abnormalities as leading symptom in corpus callosum agenesis with psychosomatic development in accordance to age]. 61
5304259 1967
321
[Corpus callosum agenesis in bilateral Bonnevie-Ullrich syndrome; a contribution on effects and disorders of organizers]. 61
13387996 1956

Variations for Corpus Callosum, Agenesis of

ClinVar genetic disease variations for Corpus Callosum, Agenesis of:

6 (showing 31, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B):c.1612C>T (p.Gln538Ter)SNV Pathogenic 374179 rs1057518951 6:157150430-157150430 6:156829296-156829296
2 DCC NM_005215.4(DCC):c.925del (p.Thr309fs)deletion Pathogenic 375281 rs1057519053 18:50451680-50451680 18:52925310-52925310
3 DCC NM_005215.4(DCC):c.1790G>C (p.Arg597Pro)SNV Pathogenic 375284 rs1057519056 18:50734116-50734116 18:53207746-53207746
4 DCC NM_005215.4(DCC):c.2227A>T (p.Met743Leu)SNV Pathogenic 375285 rs199651452 18:50866145-50866145 18:53339775-53339775
5 DCC NM_005215.4(DCC):c.2260G>A (p.Val754Met)SNV Pathogenic 375286 rs775565634 18:50866178-50866178 18:53339808-53339808
6 DCC NM_005215.4(DCC):c.2378T>G (p.Val793Gly)SNV Pathogenic 375282 rs1057519054 18:50912431-50912431 18:53386061-53386061
7 DCC NM_005215.4(DCC):c.2414G>A (p.Gly805Glu)SNV Pathogenic 375283 rs1057519055 18:50912467-50912467 18:53386097-53386097
8 DCC NM_005215.4(DCC):c.2677G>A (p.Ala893Thr)SNV Pathogenic 375287 rs1057519057 18:50918246-50918246 18:53391876-53391876
9 DCC NM_005215.4(DCC):c.823C>T (p.Arg275Ter)SNV Pathogenic 187796 rs754914260 18:50450202-50450202 18:52923832-52923832
10 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)SNV Pathogenic 11520 rs80338758 X:70347217-70347217 X:71127367-71127367
11 ADNP NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)SNV Pathogenic 279598 rs886041116 20:49509063-49509063 20:50892526-50892526
12 BCL11A NM_022893.4(BCL11A):c.295del (p.Val99fs)deletion Pathogenic 632586 rs1558519119 2:60773196-60773196 2:60546061-60546061
13 DHX16 NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile)SNV Pathogenic/Likely pathogenic 691931 6:30627820-30627820 6:30660043-30660043
14 SETD2 NM_014159.6(SETD2):c.5218C>T (p.Arg1740Trp)SNV Pathogenic/Likely pathogenic 388568 rs1057523157 3:47129662-47129662 3:47088172-47088172
15 TUBA1A NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)SNV Likely pathogenic 372561 rs1057517858 12:49579497-49579497 12:49185714-49185714
16 BORCS5 NM_058169.6(BORCS5):c.203-1G>TSNV Likely pathogenic 242898 rs1555155556 12:12588561-12588561 12:12435627-12435627
17 AUTS2 NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)SNV Likely pathogenic 632598 rs1563183469 7:70231231-70231231 7:70766245-70766245
18 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs)duplication Likely pathogenic 632606 rs1563406024 8:28413316-28413317 8:28555799-28555800
19 TUBA1A NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn)SNV Likely pathogenic 632599 rs1565627707 12:49580440-49580440 12:49186657-49186657
20 TMLHE NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)SNV Likely pathogenic 632605 rs782785654 X:154754198-154754198 X:155524537-155524537
21 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)SNV Likely pathogenic 632604 rs1569234334 X:69549270-69549270 X:70329420-70329420
22 SLC12A6 NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)duplication Likely pathogenic 523557 rs1555380716 15:34547586-34547587 15:34255385-34255386
23 EP300 NM_001429.4(EP300):c.2027G>C (p.Gly676Ala)SNV Uncertain significance 523442 rs1555908795 22:41537200-41537200 22:41141196-41141196
24 MID1 NM_033290.4(MID1):c.1765A>G (p.Asn589Asp)SNV Uncertain significance 523364 rs1556001939 X:10417647-10417647 X:10449607-10449607
25 BCOR NM_001123383.1(BCOR):c.4591A>G (p.Thr1531Ala)SNV Uncertain significance 523408 rs1289349820 X:39914669-39914669 X:40055416-40055416
26 C2CD3 NM_001286577.1(C2CD3):c.917T>C (p.Leu306Pro)SNV Uncertain significance 598992 rs762278054 11:73849803-73849803 11:74138758-74138758
27 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862
28 PIK3CA NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser)SNV Uncertain significance 523491 rs1553820694 3:178919257-178919257 3:179201469-179201469
29 DYNC1H1 NM_001376.5(DYNC1H1):c.13047_13049GGA[1] (p.Glu4350del)short repeat Uncertain significance 523438 rs1555412533 14:102514194-102514196 14:102047857-102047859
30 DCC NM_005215.4(DCC):c.3649A>G (p.Met1217Val)SNV no interpretation for the single variant 375320 rs1057519058 18:50994293-50994293 18:53467923-53467923
31 DCC NM_005215.4(DCC):c.3748G>A (p.Ala1250Thr)SNV no interpretation for the single variant 375319 rs748112308 18:51013178-51013178 18:53486808-53486808

Expression for Corpus Callosum, Agenesis of

Search GEO for disease gene expression data for Corpus Callosum, Agenesis of.

Pathways for Corpus Callosum, Agenesis of

GO Terms for Corpus Callosum, Agenesis of

Biological processes related to Corpus Callosum, Agenesis of according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 neural tube closure GO:0001843 9.26 SETD2 MED12
2 forebrain development GO:0030900 9.16 SETD2 ARX
3 embryonic organ development GO:0048568 8.96 SETD2 MED12
4 negative regulation of dendrite development GO:2000171 8.62 DCC BCL11A

Molecular functions related to Corpus Callosum, Agenesis of according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.8 MED12 ARX ADNP

Sources for Corpus Callosum, Agenesis of

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