MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7111
Name:LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
Definition:
Alternative IDs:
ParentIDs:MESH:C562568|MESH:D054082
TreeNumbers:C10.500.507.450.499/616342 |C10.500/C562568/616342 |C16.131.666.507.450.499/616342 |C16.131.666/C562568/616342 |F03.625.421/C562568/616342
Synonyms:LIS7
Slim Mappings:Congenital abnormality|Mental disorder|Nervous system disease
Reference: MedGen: 616342
MeSH: 616342
OMIM: 616342;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0001274Agenesis of corpus callosum
4 HP:0001284Areflexia
5 HP:0002804Arthrogryposis multiplex congenita
6 HP:0001321Cerebellar hypoplasia
7 HP:0000293Full cheeks
8 HP:0001263Global developmental delay
NAMDC:  Mental retardation
9 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
10 HP:0001188Hand clenching
11 HP:0001007Hirsutism
12 HP:0001339Lissencephaly
13 HP:0001004Lymphedema
14 HP:0000252Microcephaly
15 HP:0000347Micrognathia
16 HP:0000470Short neck
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004935.3(CDK5):c.580+1G>A1020CDK5Pathogenic786205164RCV000170351; NMedGen:C4225359,OMIM:6163427150752363150752363OMIM Allelic Variant:123831.0001C4225359 616342 Lissencephaly 7 with cerebellar hypoplasia;
MSeqDR Portal