Aplasia/Hypoplasia of the corpus callosum

Symptom Information:

Symptom ID: HPO:0007370
Synonyms:
Absent/hypoplastic corpus callosum [HPO:0007370]
Agenesis/hypoplasic corpus collosum [HPO:0007370]
Hypoplasia or absence of the corpus callosum [HPO:0007370]
Hypoplastic or absent corpus callosum [HPO:0007370]
Corpus callosum agenesis [Orphanet:42630]
Agenesis of corpus callosum (disorder) [Orphanet:42630]
Agenesis of corpus callosum [Orphanet:42630]
Absent/Hypoplastic corpus callosum [OMIM:Absent/Hypoplastic corpus callosum]
Agenesis/hypoplasic corpus collosum [OMIM:Agenesis/hypoplasic corpus collosum]
Hypoplasia or absence of the corpus callosum [OMIM:Hypoplasia or absence of the corpus callosum]
Hypoplastic or absent corpus callosum [OMIM:Hypoplastic or absent corpus callosum]
Corpus callosum/septum pellucidum total/partial agenesis [Orphanet:42630]
Congenital central nervous system anomaly [MedDRA:10010411]
Anomaly congenital central nervous system [MedDRA:10010411]
Anomaly congenital central nervous system (NOS) [MedDRA:10010411]
Central nervous system malformation in fetus affecting management of mother [MedDRA:10010411]
Central nervous system malformation in fetus, antepartum [MedDRA:10010411]
Central nervous system malformation in fetus, unspecified as to episode of care in pregnancy [MedDRA:10010411]
Central nervous system malformation in fetus, with delivery [MedDRA:10010411]
CNS congenital anomaly [MedDRA:10010411]
Congenital brain anomaly NOS [MedDRA:10010411]
Congenital CNS anomaly NOS [MedDRA:10010411]
Congenital reduction deformities of brain [MedDRA:10010411]
Exencephaly [MedDRA:10010411]
Other congenital anomalies of nervous system [MedDRA:10010411]
Other specified congenital anomalies of brain [MedDRA:10010411]
Other specified congenital anomalies of nervous system [MedDRA:10010411]
Unspecified congenital anomaly of brain, spinal cord, and nervous system [MedDRA:10010411]
Congenital cerebral anomaly NOS [MedDRA:10010411]
Corpus callosum agenesis [MedDRA:10010411]
Agenesis corpus callosum [OMIM:Agenesis corpus callosum]
Agenesis of corpus callosum (in some patients) [OMIM:Agenesis of corpus callosum (in some patients)]
Corpus callosum, agenesis of (in some patients) [OMIM:Corpus callosum, agenesis of (in some patients)]
Exencephaly [MedDRA:10015633]
Exencephaly (disorder) [Orphanet:42090]
Exencephaly [Orphanet:42090]
Encephalocele/exencephaly [Orphanet:42090]
Quality:
Cross references:
HPO:0001274 "Agenesis of corpus callosum" [Orphanet:42630]
HPO:0002079 "Hypoplasia of the corpus callosum" [Orphanet:42630]
Orphanet:42630 "Corpus callosum/septum pellucidum total/partial agenesis" [Orphanet:42630]
Orphanet:42090 "Encephalocele/exencephaly" [Orphanet:42090]
OMIM: "Absent/Hypoplastic corpus callosum" [OMIM:Absent/Hypoplastic corpus callosum]
OMIM: "Agenesis/hypoplasic corpus collosum" [OMIM:Agenesis/hypoplasic corpus collosum]
OMIM: "Hypoplasia or absence of the corpus callosum" [OMIM:Hypoplasia or absence of the corpus callosum]
OMIM: "Hypoplastic or absent corpus callosum" [OMIM:Hypoplastic or absent corpus callosum]
OMIM: "Agenesis corpus callosum" [OMIM:Agenesis corpus callosum]
OMIM: "Agenesis of corpus callosum (in some patients)" [OMIM:Agenesis of corpus callosum (in some patients)]
OMIM: "Corpus callosum, agenesis of (in some patients)" [OMIM:Corpus callosum, agenesis of (in some patients)]
UMLS:C0175754 "Agenesis of corpus callosum" [Orphanet:42630]
UMLS:C0266453 "Exencephaly" [Orphanet:42090]
Is a (Direct Parents):
MedDRA Congenital and hereditary central nervous system disorders NEC
Orphanet Spinal dysraphism
HPO         Aplasia/Hypoplasia of the cerebrum
Orphanet Structural anomalies of the nervous system
HPO         Abnormality of the corpus callosum
Orphanet Agenesis of corpus callosum
Is a (Whole tree): HPO:
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Congenital and peripartum neurological conditions(MedDRA:10010335)
       Congenital and hereditary central nervous system disorders NEC(MedDRA:10010332)
          Aplasia/Hypoplasia of the corpus callosum(HPO:0007370)
Database Frequency: 180 / 7739
Resource:

All diseases associated with this symptom:

14q12 microdeletion syndrome (Orphanet:261144)
14q22q23 microdeletion syndrome (Orphanet:264200)
16p13.11 microdeletion syndrome (Orphanet:261236)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p11.2 microduplication syndrome (Orphanet:1713)
17p13.3 microduplication syndrome (Orphanet:217385)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q44 microdeletion syndrome (Orphanet:238769)
3-hydroxyisobutyric aciduria (Orphanet:939)
3q13 microdeletion syndrome (Orphanet:1621)
49,XXXXY syndrome (Orphanet:96264)
4q21 microdeletion syndrome (Orphanet:238750)
5q14.3 microdeletion syndrome (Orphanet:228384)
6q25 microdeletion syndrome (Orphanet:251056)
8q21.11 microdeletion syndrome (Orphanet:284160)
Acrocallosal syndrome (Orphanet:36)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Aicardi syndrome (Orphanet:50)
Alexander disease (Orphanet:58)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Amish lethal microcephaly (Orphanet:99742)
Aniridia (Orphanet:77)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Apert syndrome (Orphanet:87)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Autosomal recessive cutis laxa type 2 (Orphanet:90350)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
Bohring-Opitz syndrome (Orphanet:97297)
C syndrome (Orphanet:1308)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CEDNIK syndrome (Orphanet:66631)
CHARGE syndrome (Orphanet:138)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carpenter syndrome (Orphanet:65759)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Christianson syndrome (Orphanet:85278)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Corpus callosum agenesis - double urinary collecting system (Orphanet:1492)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Crane-Heise syndrome (Orphanet:1512)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniotelencephalic dysplasia (Orphanet:1528)
Curry-Jones syndrome (Orphanet:1553)
De Barsy syndrome (Orphanet:2962)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Desmosterolosis (Orphanet:35107)
Diabetic embryopathy (Orphanet:1926)
Distal monosomy 13q (Orphanet:1590)
Distal monosomy 3p (Orphanet:1620)
Distal trisomy 14q (Orphanet:1705)
Donnai-Barrow syndrome (Orphanet:2143)
Dubowitz syndrome (Orphanet:235)
Dysmorphism - multiple structural anomalies (Orphanet:1780)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
Femoral-facial syndrome (Orphanet:1988)
Fine-Lubinsky syndrome (Orphanet:1272)
Frontal encephalocele (Orphanet:1931)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Frontonasal dysplasia (Orphanet:250)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Fryns syndrome (Orphanet:2059)
Genitopatellar syndrome (Orphanet:85201)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Goldenhar syndrome (Orphanet:374)
Gorlin syndrome (Orphanet:377)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holzgreve-Wagner-Rehder syndrome (Orphanet:2167)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hydrolethalus (Orphanet:2189)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Infantile spasms - broad thumbs (Orphanet:3173)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Isolated Dandy-Walker malformation (Orphanet:217)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome (Orphanet:475)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with renal defect (Orphanet:220497)
Jung-Wolff-Back-Stahl syndrome (Orphanet:2321)
Kapur-Toriello syndrome (Orphanet:2328)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Koolen-De Vries syndrome (Orphanet:96169)
Laurin-Sandrow syndrome (Orphanet:2378)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Linear nevus sebaceus syndrome (Orphanet:2612)
Linear verrucous nevus syndrome (Orphanet:2611)
Lowry-MacLean syndrome (Orphanet:2409)
Lowry-Wood syndrome (Orphanet:1824)
MASA syndrome (Orphanet:2466)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
Marden-Walker syndrome (Orphanet:2461)
Meckel syndrome (Orphanet:564)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephaly - seizures - intellectual deficit - heart disease (Orphanet:2519)
Microgastria - limb reduction defect (Orphanet:2538)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microphthalmia, Lenz type (Orphanet:568)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 13q14 (Orphanet:1587)
Monosomy 22q13 (Orphanet:48652)
Monosomy 9p (Orphanet:261112)
Monosomy 9q22.3 (Orphanet:77301)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mosaic trisomy 8 (Orphanet:96061)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
Mycophenolate mofetil embryopathy (Orphanet:268249)
Neu-Laxova syndrome (Orphanet:2671)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculocutaneous albinism type 1A (Orphanet:79431)
Okamoto syndrome (Orphanet:2729)
Orofaciodigital syndrome type 1 (Orphanet:2750)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PHACE syndrome (Orphanet:42775)
Pai syndrome (Orphanet:1993)
Pallister-Hall syndrome (Orphanet:672)
Peters-plus syndrome (Orphanet:709)
Premature chromosome condensation with microcephaly and intellectual deficit (Orphanet:52183)
Primary cutis verticis gyrata (Orphanet:671)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Schizencephaly (Orphanet:799)
Septo-optic dysplasia (Orphanet:3157)
Short rib-polydactyly syndrome (Orphanet:1505)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Sotos syndrome (Orphanet:821)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Spontaneous periodic hypothermia (Orphanet:29822)
Syndromic microphthalmia type 5 (Orphanet:178364)
Temtamy syndrome (Orphanet:1777)
Tetraamelia - multiple malformations (Orphanet:3301)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Toriello-Carey syndrome (Orphanet:3338)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Townes-Brocks syndrome (Orphanet:857)
Triploidy (Orphanet:3376)
Trisomy 18 (Orphanet:3380)
Trisomy 1q (Orphanet:261344)
Tuberous sclerosis (Orphanet:805)
Vici syndrome (Orphanet:1493)
Von Voss-Cherstvoy syndrome (Orphanet:3439)
Walker-Warburg syndrome (Orphanet:899)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked intellectual deficit - corpus callosum agenesis - spastic quadriparesis (Orphanet:85330)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
X-linked neurodegenerative syndrome, Bertini type (Orphanet:85334)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)