Pachygyria
Symptom Information:
Symptom ID: | HPO:0001302 | |||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |