Term ID: 7074
Name: Thick corpus callosum
Synonym: Abnormal size of corpus callosum; Large corpus callosum
Definition: Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.
Comments:
Reference: HP:0007074
Genes and Diseases: Child Nodes: Sister Nodes: ..Abnormal length of corpus callosum (HP:0200011) ..Aplasia/Hypoplasia of the corpus callosum (HP:0007370) ..Corpus callosum atrophy (HP:0007371) ..Dysplastic corpus callosum (HP:0006989) ..Pericallosal lipoma (HP:0006931) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0007074 HP:0007074 Thick corpus callosum 0 ATP1A2 CL E G H 477 800 OMIM:619605 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 239 HP:0007074 HP:0007074 Thick corpus callosum 0 ATP1A3 CL E G H 478 801 OMIM:619606 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 150 HP:0007074 HP:0007074 Thick corpus callosum 0 CAMK2A CL E G H 815 1460 OMIM:617798 Mental retardation, autosomal dominant 53 1 HP:0007074 HP:0007074 Thick corpus callosum 0 CNOT3 CL E G H 4849 7879 OMIM:618672 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF HP:0007074 HP:0007074 Thick corpus callosum 0 HERC1 CL E G H 8925 4867 OMIM:617011 Macrocephaly, dysmorphic facies, and psychomotor retardation HP:0040283 - Occasional 16 HP:0007074 HP:0007074 Thick corpus callosum 0 HERC1 CL E G H 8925 4867 ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0040283 - Occasional 16 HP:0007074 HP:0007074 Thick corpus callosum 0 KDM3B CL E G H 51780 1337 OMIM:618846 DIETS-JONGMANS SYNDROME; DIJOS HP:0007074 HP:0007074 Thick corpus callosum 0 NONO CL E G H 4841 7871 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 10 HP:0007074 HP:0007074 Thick corpus callosum 0 ODC1 CL E G H 4953 8109 ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0040283 - Occasional 1 HP:0007074 HP:0007074 Thick corpus callosum 0 PIK3R2 CL E G H 5296 8980 OMIM:603387 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome . 12 HP:0007074 HP:0007074 Thick corpus callosum 0 PRMT7 CL E G H 54496 25557 ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0040283 - Occasional 6 HP:0007074 HP:0007074 Thick corpus callosum 0 SZT2 CL E G H 23334 29040 OMIM:615476 Epileptic encephalopathy, early infantile, 18 . 123 HP:0007074 HP:0007074 Thick corpus callosum 0 TUBG1 CL E G H 7283 12417 OMIM:615412 Cortical dysplasia, complex, with other brain malformations 4 14 HP:0007074 HP:0007074 Thick corpus callosum 0 VPS13B CL E G H 157680 2183 OMIM:216550 Cohen syndrome . 546
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
