Agenesis of corpus callosum
Symptom Information:
Symptom ID: | HPO:0001274 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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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) |
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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) |