MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: syndrome with a symptomatic strabismus (MONDO:0020253)
..Starting node ..severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome ()
Child Nodes:
Sister Nodes:
..cat-eye syndrome ()
..congenital fibrosis of extraocular muscles ()
..Cornelia de Lange syndrome ()
..craniostenosis associated with a strabismus ()
..Cri-du-chat syndrome ()
..Duane retraction syndrome ()
..Duane-radial ray syndrome ()
..fragile X syndrome ()
..horizontal gaze palsy with progressive scoliosis ()
..intellectual disability-strabismus syndrome ()
..Joubert syndrome with ocular defect ()
..Kearns-Sayre syndrome () L: 00143;
..Leigh disease ()
..maternally-inherited progressive external ophthalmoplegia ()
..Mobius syndrome ()
..oculorenocerebellar syndrome ()
..severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ()
..severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome ()
..Treacher-Collins syndrome ()
..trisomy 13 ()
..Waardenburg syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18572
Name:	severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal