Disease #05362 (LIS (lissencephaly))

Official abbreviation LIS
Name lissencephaly
OMIM ID -
Inheritance -
Individuals reported having this disease 35
Phenotype entries for this disease 35
Associated with 1 gene MACF1
Associated tissues -
Disease features -
Remarks -
Date created 2017-12-29 12:16:43 +01:00 (CET)
Date last edited 2023-11-27 09:41:55 +01:00 (CET)


Individuals

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00146778 ? PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - FKRP FKRP 1 1 Johan den Dunnen
00146780 ? PubMed: Bouchet 2007 aborted fetus - no (France) - <0y - - - LIS - FKRP FKRP 1 1 Johan den Dunnen
00146781 ? PubMed: Bouchet 2007 aborted fetus - no (France) - <0y - - - LIS - FKRP FKRP 1 1 Johan den Dunnen
00146782 A PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - FKRP FKRP 1 1 Johan den Dunnen
00151486 ? PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - FKTN FKTN 1 1 Johan den Dunnen
00152186 17559086-Fam14 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152187 17559086-Fam15 PubMed: Bouchet 2007 2 aborted fetuses - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 2 2 Johan den Dunnen
00152188 17559086-Fam16 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 3 1 Johan den Dunnen
00152189 17559086-Fam17 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152190 17559086-Fam18 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152191 17559086-Fam19 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152350 - PubMed: Bouchet 2007 aborted fetus - - France - <0y - - - LIS - POMT1 POMT1 1 1 Johan den Dunnen
00152351 - PubMed: Bouchet 2007 - - - France - - - - - LIS - POMT1 POMT1 1 1 Johan den Dunnen
00152352 - PubMed: Bouchet 2007 - - - France - - - - - LIS - POMT1 POMT1 1 5 Johan den Dunnen
00152354 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 1 1 Johan den Dunnen
00152355 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152356 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152357 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152358 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152359 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 1 1 Johan den Dunnen
00152360 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152361 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152367 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152368 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152369 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152480 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 1 1 Johan den Dunnen
00152481 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 1 1 Johan den Dunnen
00152482 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 2 1 Johan den Dunnen
00152483 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 2 1 Johan den Dunnen
00152484 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 2 1 Johan den Dunnen
00152575 21727005-Fet1/2 PubMed: Vuillaumier-Barrot 2011 2-generation family, 1 affected, unaffected parents - - - - - - - - LIS see paper; ... LARGE - - 1 Johan den Dunnen
00152636 - PubMed: Vuillaumier-Barrot 2011 - - no - - - - - - LIS 22w pregnancy termination because of reoccurrence severe quadriventricular hydrocephalus/cerebellar hypoplasia (like fetus F1); fetus dysmorphic features, horizontal narrow palpebral slit, bulging eyes, hypertrichosis cheeks/shoulders LARGE LARGE 2 1 Johan den Dunnen
00152637 - PubMed: Vuillaumier-Barrot 2011 - - no - - - - - - LIS fetus triventricular hydrocephalus, no encephalocele, no retinal dysplasia, no other visceral abnormalities LARGE LARGE 2 1 Johan den Dunnen
00320066 170677 - - M - - - - - - - LIS (+) Abnormal nervous system morphology,(+) Abnormal myelination,(+) Abnormal CNS myelination,(+) Leukodystrophy,(+) Abnormal involuntary eye movements,(+) Nystagmus,(+) Spasticity,(+) Abnormality of movement,(+) Hypogonadism,(+) Male hypogonadism,(+) CNS hypomyelination,(+) Peripheral hypomyelination,(+) Hypoplasia of the corpus callosum MACF1, TIAM1 - - 1 Andreas Laner
00458543 - - - M - - (not applicable) white - - - - LIS HP:0000276, HP:0001250, HP:0001339, HP:0010864, HP:0002187, HP:0003202, HP:0004322, HP:0009055, HP:0100807 - CEP85L 1 1 Marketa Wayhelova
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.