Hypoplasia of the corpus callosum

Symptom Information:

Symptom ID: HPO:0002079
Synonyms:
Corpus callosum hypoplasia [HPO:0002079]
Hypoplasia of corpus callosum [HPO:0002079]
Hypoplastic corpus callosum [HPO:0002079]
Small corpus callosum [HPO:0002079]
Thin corpus callosum [HPO:0002079]
Thinning of the corpus callosum [HPO:0002079]
Corpus callosum agenesis [Orphanet:42630]
Agenesis of corpus callosum (disorder) [Orphanet:42630]
Agenesis of corpus callosum [Orphanet:42630]
Corpus callosum hypoplasia [OMIM:Corpus callosum hypoplasia]
Hypoplasia of corpus callosum [OMIM:Hypoplasia of corpus callosum]
Hypoplasia of the corpus callosum [OMIM:Hypoplasia of the corpus callosum]
Hypoplastic corpus callosum [OMIM:Hypoplastic corpus callosum]
Small corpus callosum [OMIM:Small corpus callosum]
Thin corpus callosum [OMIM:Thin corpus callosum]
Thinning of the corpus callosum [OMIM:Thinning of the 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)]
Corpus callosum, thin (rare) [OMIM:Corpus callosum, thin (rare)]
Hypoplasia of the corpus callosum (2 patients) [OMIM:Hypoplasia of the corpus callosum (2 patients)]
Hypoplastic corpus callosum (1 patient) [OMIM:Hypoplastic corpus callosum (1 patient)]
Hypoplastic corpus callosum (in some) [OMIM:Hypoplastic corpus callosum (in some)]
Thin corpus callosum (1 family) [OMIM:Thin corpus callosum (1 family)]
Thin corpus callosum (1 patient) [OMIM:Thin corpus callosum (1 patient)]
Thin corpus callosum (1/4 patients) [OMIM:Thin corpus callosum (1/4 patients)]
Thin corpus callosum (in some patients) [OMIM:Thin corpus callosum (in some patients)]
Thin corpus callosum (rare) [OMIM:Thin corpus callosum (rare)]
Thinning of the corpus callosum (in 1 family) [OMIM:Thinning of the corpus callosum (in 1 family)]
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:0007370 "Aplasia/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: "Corpus callosum hypoplasia" [OMIM:Corpus callosum hypoplasia]
OMIM: "Hypoplasia of corpus callosum" [OMIM:Hypoplasia of corpus callosum]
OMIM: "Hypoplasia of the corpus callosum" [OMIM:Hypoplasia of the corpus callosum]
OMIM: "Hypoplastic corpus callosum" [OMIM:Hypoplastic corpus callosum]
OMIM: "Small corpus callosum" [OMIM:Small corpus callosum]
OMIM: "Thin corpus callosum" [OMIM:Thin corpus callosum]
OMIM: "Thinning of the corpus callosum" [OMIM:Thinning of the 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)]
OMIM: "Corpus callosum, thin (rare)" [OMIM:Corpus callosum, thin (rare)]
OMIM: "Hypoplasia of the corpus callosum (2 patients)" [OMIM:Hypoplasia of the corpus callosum (2 patients)]
OMIM: "Hypoplastic corpus callosum (1 patient)" [OMIM:Hypoplastic corpus callosum (1 patient)]
OMIM: "Hypoplastic corpus callosum (in some)" [OMIM:Hypoplastic corpus callosum (in some)]
OMIM: "Thin corpus callosum (1 family)" [OMIM:Thin corpus callosum (1 family)]
OMIM: "Thin corpus callosum (1 patient)" [OMIM:Thin corpus callosum (1 patient)]
OMIM: "Thin corpus callosum (1/4 patients)" [OMIM:Thin corpus callosum (1/4 patients)]
OMIM: "Thin corpus callosum (in some patients)" [OMIM:Thin corpus callosum (in some patients)]
OMIM: "Thin corpus callosum (rare)" [OMIM:Thin corpus callosum (rare)]
OMIM: "Thinning of the corpus callosum (in 1 family)" [OMIM:Thinning of the corpus callosum (in 1 family)]
UMLS:C0175754 "Agenesis of corpus callosum" [Orphanet:42630]
UMLS:C0266453 "Exencephaly" [Orphanet:42090]
Is a (Direct Parents):
Orphanet Agenesis of corpus callosum
Orphanet Structural anomalies of the nervous system
Orphanet Spinal dysraphism
HPO         Aplasia/Hypoplasia of the 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)
          Hypoplasia of the corpus callosum(HPO:0002079)
Database Frequency: 161 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
17p11.2 microduplication syndrome (Orphanet:1713)
17q12 microduplication syndrome (Orphanet:261272)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microduplication syndrome (Orphanet:250994)
3C syndrome (Orphanet:7)
3q13 microdeletion syndrome (Orphanet:1621)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Acromelic frontonasal dysplasia (Orphanet:1827)
Adams-Oliver syndrome (Orphanet:974)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Autosomal dominant spastic paraplegia type 3 (Orphanet:100984)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 15 (Orphanet:100996)
Autosomal recessive spastic paraplegia type 18 (Orphanet:209951)
Autosomal recessive spastic paraplegia type 32 (Orphanet:171622)
Autosomal recessive spastic paraplegia type 35 (Orphanet:171629)
Autosomal recessive spastic paraplegia type 44 (Orphanet:320401)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
Autosomal recessive spastic paraplegia type 54 (Orphanet:320380)
Autosomal recessive spastic paraplegia type 55 (Orphanet:320375)
Autosomal recessive spastic paraplegia type 56 (Orphanet:320411)
BRESEK syndrome (Orphanet:85284)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral frontal polymicrogyria (Orphanet:208444)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Bohring-Opitz syndrome (Orphanet:97297)
CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CODAS syndrome (Orphanet:1458)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COG4-CDG (Orphanet:263501)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Chudley-McCullough syndrome (Orphanet:314597)
Coffin-Siris syndrome (Orphanet:1465)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet:300570)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofrontonasal dysplasia (Orphanet:1520)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 (OMIM:615473)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 (OMIM:612164)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
Emanuel syndrome (Orphanet:96170)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Encephalopathy due to prosaposin deficiency (Orphanet:139406)
Fine-Lubinsky syndrome (Orphanet:1272)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
GCS1-CDG (Orphanet:79330)
Galloway-Mowat syndrome (Orphanet:2065)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (Orphanet:363412)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Joubert syndrome 21 (OMIM:615636)
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY (OMIM:606369)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 (OMIM:615075)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
MERRF (Orphanet:551)
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS (OMIM:604317)
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE (OMIM:601420)
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY (OMIM:615760)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
Meckel syndrome, type 4 (OMIM:611134)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Micro syndrome (Orphanet:2510)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - seizures - developmental delay (Orphanet:228418)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 13q14 (Orphanet:1587)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Muscle-eye-brain disease (Orphanet:588)
Nasu-Hakola disease (Orphanet:2770)
OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculofaciocardiodental syndrome (Orphanet:2712)
Odontoleukodystrophy (Orphanet:77295)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Pitt-Hopkins syndrome (Orphanet:2896)
Polymicrogyria due to TUBB2B mutation (Orphanet:300573)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Pontocerebellar hypoplasia type 7 (Orphanet:284339)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Progressive myoclonic epilepsy type 3 (Orphanet:263516)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
SENER SYNDROME (OMIM:606156)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
SLC35A2-CDG (Orphanet:356961)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
STEVENSON-CAREY SYNDROME (OMIM:611961)
Schinzel-Giedion syndrome (Orphanet:798)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spastic paraplegia 63, autosomal recessive (OMIM:615686)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
Syndromic microphthalmia type 5 (Orphanet:178364)
TERATOCARCINOMA-DERIVED GROWTH FACTOR 1 (OMIM:187395)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
WEBB-DATTANI SYNDROME (OMIM:615926)
Wolfram syndrome 1 (OMIM:222300)
X-linked creatine transporter deficiency (Orphanet:52503)
XIA-GIBBS SYNDROME (OMIM:615829)