Aplasia/Hypoplasia of the corpus callosum

Symptom Information:

Symptom ID: HPO:0007370
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]
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):
Orphanet Spinal dysraphism
HPO         Aplasia/Hypoplasia of the cerebrum
MedDRA Congenital and hereditary central nervous system disorders NEC
HPO         Abnormality of the corpus callosum
Orphanet Structural anomalies of the nervous system
Orphanet Agenesis of corpus callosum
Is a (Whole tree): HPO:
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

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)
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)
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)
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)