Hypoplasia of the corpus callosum
Symptom Information:
Symptom ID: | HPO:0002079 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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) Hypoplasia of the corpus callosum(HPO:0002079) |
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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) |