Pachygyria

Symptom Information:

Symptom ID: HPO:0001302
Synonyms:
Cerebral pachygyria [HPO:0001302]
Macrogyria (disorder) [Orphanet:42600]
Macrogyria [HPO:0001302]
Pachygyria [Orphanet:42600]
Cerebral pachygyria [OMIM:Cerebral pachygyria]
Pachygyria [OMIM:Pachygyria]
Agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect [Orphanet:42600]
Pachygyria [MedDRA:10048910]
Macrogyria [MedDRA:10048910]
Pachygyria (1 patient) [OMIM:Pachygyria (1 patient)]
Pachygyria (less common) [OMIM:Pachygyria (less common)]
Pachygyria (posterior-to-anterior gradient) [OMIM:Pachygyria (posterior-to-anterior gradient)]
Pachygyria (rare) [OMIM:Pachygyria (rare)]
Quality:
Cross references:
Orphanet:42600 "Agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect" [Orphanet:42600]
OMIM: "Cerebral pachygyria" [OMIM:Cerebral pachygyria]
OMIM: "Pachygyria" [OMIM:Pachygyria]
OMIM: "Pachygyria (1 patient)" [OMIM:Pachygyria (1 patient)]
OMIM: "Pachygyria (less common)" [OMIM:Pachygyria (less common)]
OMIM: "Pachygyria (posterior-to-anterior gradient)" [OMIM:Pachygyria (posterior-to-anterior gradient)]
OMIM: "Pachygyria (rare)" [OMIM:Pachygyria (rare)]
UMLS:C0266483 "Macrogyria" [HPO:0001302]
UMLS:C0266483 "Pachygyria" [Orphanet:42600]
Is a (Direct Parents):
MedDRA Cerebral disorders congenital
HPO         Abnormal cortical gyration
Orphanet Structural anomalies of the nervous system
Is a (Whole tree): HPO:
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Neurological disorders congenital(MedDRA:10029299)
       Cerebral disorders congenital(MedDRA:10052634)
          Pachygyria(HPO:0001302)
Database Frequency: 60 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Adams-Oliver syndrome (Orphanet:974)
Aicardi syndrome (Orphanet:50)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Baraitser-Winter syndrome (Orphanet:2995)
Bilateral frontal polymicrogyria (Orphanet:208444)
CEDNIK syndrome (Orphanet:66631)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CK syndrome (Orphanet:251383)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
Cerebro-facio-articular syndrome (Orphanet:314679)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital muscular dystrophy with cerebellar involvement (Orphanet:370959)
Dysequilibrium syndrome (Orphanet:1766)
Galloway-Mowat syndrome (Orphanet:2065)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Hennekam syndrome (Orphanet:2136)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
Kapur-Toriello syndrome (Orphanet:2328)
LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Lissencephaly due to LIS1 mutation (Orphanet:95232)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS (OMIM:604317)
MICROHYDRANENCEPHALY (OMIM:605013)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
Malonic aciduria (Orphanet:943)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Miller-Dieker syndrome (Orphanet:531)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Muscle-eye-brain disease (Orphanet:588)
PACHYGYRIA, FRONTOTEMPORAL (OMIM:610279)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Pachygyria - intellectual deficit - epilepsy (Orphanet:2798)
Polymicrogyria due to TUBB2B mutation (Orphanet:300573)
RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
SECKEL SYNDROME 1 (OMIM:210600)
Seckel syndrome (Orphanet:808)
Short rib-polydactyly syndrome, Majewski type (Orphanet:93269)
Short-rib thoracic dysplasia 6 with or without polydactyly (OMIM:263520)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Wolcott-Rallison syndrome (Orphanet:1667)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
Yunis-Varon syndrome (Orphanet:3472)