Agenesis of corpus callosum

Symptom Information:

Symptom ID: HPO:0001274
Synonyms:
Absence of corpus callosum [HPO:0001274]
Absent corpus callosum [HPO:0001274]
Agenesis of the corpus callosum [HPO:0001274]
Callosal agenesis [HPO:0001274]
Corpus callosum agenesis [HPO:0001274]
Dysplastic or absent corpus callosum [HPO:0001274]
Corpus callosum agenesis [Orphanet:42630]
Agenesis of corpus callosum (disorder) [Orphanet:42630]
Agenesis of corpus callosum [Orphanet:42630]
Absence of corpus callosum [OMIM:Absence of corpus callosum]
Absent corpus callosum [OMIM:Absent corpus callosum]
Agenesis of corpus callosum [OMIM:Agenesis of corpus callosum]
Agenesis of the corpus callosum [OMIM:Agenesis of the corpus callosum]
Callosal agenesis [OMIM:Callosal agenesis]
Corpus callosum agenesis [OMIM:Corpus callosum agenesis]
Dysplastic or absent corpus callosum [OMIM:Dysplastic 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]
Absent corpus callosum (variable) [OMIM:Absent corpus callosum (variable)]
Agenesis corpus callosum [OMIM:Agenesis corpus callosum]
Agenesis of corpus callosum (in some patients) [OMIM:Agenesis of corpus callosum (in some patients)]
Agenesis of the corpus callosum (1 patient) [OMIM:Agenesis of the corpus callosum (1 patient)]
Agenesis of the corpus callosum (in 1 of 2 patients) [OMIM:Agenesis of the corpus callosum (in 1 of 2 patients)]
Agenesis of the corpus callosum (in 2 patients) [OMIM:Agenesis of the corpus callosum (in 2 patients)]
Agenesis of the corpus callosum (in some patients) [OMIM:Agenesis of the corpus callosum (in some patients)]
Agenesis of the corpus callosum (less common) [OMIM:Agenesis of the corpus callosum (less common)]
Agenesis of the corpus callosum (rare) [OMIM:Agenesis of the corpus callosum (rare)]
Agenesis of the corpus callosum (variable) [OMIM:Agenesis of the corpus callosum (variable)]
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:0007370 "Aplasia/Hypoplasia of the 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: "Absence of corpus callosum" [OMIM:Absence of corpus callosum]
OMIM: "Absent corpus callosum" [OMIM:Absent corpus callosum]
OMIM: "Agenesis of corpus callosum" [OMIM:Agenesis of corpus callosum]
OMIM: "Agenesis of the corpus callosum" [OMIM:Agenesis of the corpus callosum]
OMIM: "Callosal agenesis" [OMIM:Callosal agenesis]
OMIM: "Corpus callosum agenesis" [OMIM:Corpus callosum agenesis]
OMIM: "Dysplastic or absent corpus callosum" [OMIM:Dysplastic or absent corpus callosum]
OMIM: "Absent corpus callosum (variable)" [OMIM:Absent corpus callosum (variable)]
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: "Agenesis of the corpus callosum (1 patient)" [OMIM:Agenesis of the corpus callosum (1 patient)]
OMIM: "Agenesis of the corpus callosum (in 1 of 2 patients)" [OMIM:Agenesis of the corpus callosum (in 1 of 2 patients)]
OMIM: "Agenesis of the corpus callosum (in 2 patients)" [OMIM:Agenesis of the corpus callosum (in 2 patients)]
OMIM: "Agenesis of the corpus callosum (in some patients)" [OMIM:Agenesis of the corpus callosum (in some patients)]
OMIM: "Agenesis of the corpus callosum (less common)" [OMIM:Agenesis of the corpus callosum (less common)]
OMIM: "Agenesis of the corpus callosum (rare)" [OMIM:Agenesis of the corpus callosum (rare)]
OMIM: "Agenesis of the corpus callosum (variable)" [OMIM:Agenesis of the corpus callosum (variable)]
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 Structural anomalies of the nervous system
HPO         Aplasia/Hypoplasia of the corpus callosum
Orphanet Spinal dysraphism
HPO         Dysplastic corpus callosum
MedDRA Congenital and hereditary central nervous system disorders NEC
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)
          Agenesis of corpus callosum(HPO:0001274)
Database Frequency: 142 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
3q13 microdeletion syndrome (Orphanet:1621)
5p13 microduplication syndrome (Orphanet:329802)
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA (OMIM:613623)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
Acrocallosal syndrome (Orphanet:36)
Acromelic frontonasal dysplasia (Orphanet:1827)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Apert syndrome (Orphanet:87)
Arnold-Chiari malformation type II (Orphanet:1136)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS (OMIM:211200)
Baller-Gerold syndrome (Orphanet:1225)
Baraitser-Winter syndrome (Orphanet:2995)
Bilateral frontal polymicrogyria (Orphanet:208444)
Bohring-Opitz syndrome (Orphanet:97297)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
COFS syndrome (Orphanet:1466)
CORPUS CALLOSUM, AGENESIS OF (OMIM:217990)
CORTICOTROPIN-RELEASING HORMONE (OMIM:122560)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Cardiomyopathy-renal anomalies (Orphanet:90022)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Combined oxidative phosphorylation defect type 2 (Orphanet:254920)
Constitutional mismatch repair deficiency syndrome (Orphanet:252202)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet:300570)
Craniofacial dyssynostosis (Orphanet:1516)
Craniotelencephalic dysplasia (Orphanet:1528)
Curry-Jones syndrome (Orphanet:1553)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Distal monosomy 1q (Orphanet:36367)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts (OMIM:225740)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FETAL AKINESIA SYNDROME, X-LINKED (OMIM:300073)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT (OMIM:600638)
Focal dermal hypoplasia (Orphanet:2092)
Fowler syndrome (Orphanet:221126)
Frontonasal dysplasia (Orphanet:250)
Fryns syndrome (Orphanet:2059)
Fumaric aciduria (Orphanet:24)
Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066)
Genitopatellar syndrome (Orphanet:85201)
Glycine encephalopathy (Orphanet:407)
Goldenhar syndrome (Orphanet:374)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
HOLOPROSENCEPHALY 11 (OMIM:614226)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 7 (OMIM:610828)
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS (OMIM:610680)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Histiocytoid cardiomyopathy (Orphanet:137675)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hydrolethalus (Orphanet:2189)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Kroes type (Orphanet:163961)
Ivemark syndrome (Orphanet:97548)
Kallmann syndrome (Orphanet:478)
L1 syndrome (Orphanet:275543)
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
Lissencephaly type 3 - metacarpal bone dysplasia (Orphanet:86822)
MASA syndrome (Orphanet:2466)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MICROHYDRANENCEPHALY (OMIM:605013)
MICROPHTHALMIA, SYNDROMIC 11 (OMIM:614402)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
Marden-Walker syndrome (Orphanet:2461)
Marshall-Smith syndrome (Orphanet:561)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 12 (OMIM:616258)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microgastria - limb reduction defect (Orphanet:2538)
Microlissencephaly (Orphanet:1083)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
Muscle-eye-brain disease (Orphanet:588)
Nephronophthisis 9 (OMIM:613824)
Neu-Laxova syndrome (Orphanet:2671)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Non-polyposis Turcot syndrome (Orphanet:99817)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,HYDROCEPHALUS, AND HYPERTENSION (OMIM:166990)
OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY (OMIM:600329)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 5 (Orphanet:2919)
Perlman syndrome (Orphanet:2849)
Peters-plus syndrome (Orphanet:709)
Polymicrogyria due to TUBB2B mutation (Orphanet:300573)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E1-beta deficiency (Orphanet:255138)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB (OMIM:615087)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
Septo-optic dysplasia (Orphanet:3157)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Spinocerebellar ataxia type 23 (Orphanet:101108)
Syndromic microphthalmia type 5 (Orphanet:178364)
Temtamy syndrome (Orphanet:1777)
Toriello-Carey syndrome (Orphanet:3338)
Vici syndrome (Orphanet:1493)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked complicated corpus callosum dysgenesis (Orphanet:1497)
X-linked complicated spastic paraplegia type 1 (Orphanet:306617)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
Yunis-Varon syndrome (Orphanet:3472)