Cortical dysplasia

Symptom Information:

Symptom ID: HPO:0002539
Synonyms:
Neocortical dysplasia [HPO:0002539]
Cortical dysplasia [OMIM:Cortical dysplasia]
Cortical dysplasia (2 patients) [OMIM:Cortical dysplasia (2 patients)]
Neocortical dysplasia (27%) [OMIM:Neocortical dysplasia (27%)]
Cortical dysplasia [MedDRA:10070666]
Quality:
Cross references:
OMIM: "Cortical dysplasia" [OMIM:Cortical dysplasia]
OMIM: "Cortical dysplasia (2 patients)" [OMIM:Cortical dysplasia (2 patients)]
OMIM: "Neocortical dysplasia (27%)" [OMIM:Neocortical dysplasia (27%)]
Is a (Direct Parents):
MedDRA Congenital and peripartum cerebral disorders
HPO         Abnormality of the cerebral cortex
Is a (Whole tree): HPO:
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Congenital and peripartum neurological conditions(MedDRA:10010335)
       Congenital and peripartum cerebral disorders(MedDRA:10010334)
          Cortical dysplasia(HPO:0002539)
Database Frequency: 19 / 7739
Resource:

All diseases associated with this symptom:

2p15p16.1 microdeletion syndrome (Orphanet:261349)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Adams-Oliver syndrome (Orphanet:974)
Bifunctional enzyme deficiency (Orphanet:300)
CEDNIK syndrome (Orphanet:66631)
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 4 (OMIM:615412)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Congenital muscular dystrophy type 1A (Orphanet:258)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet:300570)
Cortical dysplasia - focal epilepsy syndrome (Orphanet:163681)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY (OMIM:608278)
Isolated focal cortical dysplasia type II (Orphanet:268994)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)