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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Intellectual Disability (D008607)
Parent Node: Malformations of Cortical Development (D054220)
..Starting node ..Perisylvian syndrome (C536658)
Child Nodes:
Sister Nodes:
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..CK SYNDROME (OMIM:300831)
..Cortical Dysplasia of Taylor without Balloon Cells (C564583)
..Cortical Dysplasia-Focal Epilepsy Syndrome (C566482)
..Curatolo Cilio Pessagno syndrome (C536701)
..Familial schizencephaly (C538514)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Malformations of Cortical Development, Group I (D065703) 172
..Malformations of Cortical Development, Group II (D054081) 35
..Malformations of Cortical Development, Group III (D065704) 4
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Muller Barth Menger syndrome (C537370)
..Non-lissencephalic cortical dysplasia (C536243)
..Perisylvian syndrome (C536658)
..Pitt-Hopkins-Like Syndrome 1 (C567657)
..Polymicrogyria With Optic Nerve Hypoplasia (C567715)
..Polymicrogyria, Asymmetric (C567658)
..Polymicrogyria, Bilateral Frontoparietal (C564652)
..Polymicrogyria, Bilateral Occipital (C567201)
..POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8823

Name:

Perisylvian syndrome

Definition:

Alternative IDs:

OMIM:300388

ParentIDs:

MESH:D000015|MESH:D008607|MESH:D054220

TreeNumbers:

C10.500.507/C536658 |C10.597.606.643/C536658 |C16.131.077/C536658 |C16.131.666.507/C536658 |C23.888.592.604.646/C536658 |F03.550.600/C536658

Synonyms:

Slim Mappings:

Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536658
MeSH: C536658
OMIM: 300388;

Genes: AF8T;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0007270	Atypical absence seizure
3	HP:0002069	Bilateral tonic-clonic seizure
4	HP:0100543	Cognitive impairment
5	HP:0000750	Delayed speech and language development
6	HP:0010522	Dyslexia
7	HP:0002126	Polymicrogyria
8	HP:0007024	Pseudobulbar paralysis

Disease Causing ClinVar Variants