Disease #05243 (LLS (Luscan-Lumish syndrome (LLS)), OMIM:616831)

Official abbreviation LLS
Name Luscan-Lumish syndrome (LLS)
OMIM ID 616831
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 2
Associated with 1 gene SETD2
Associated tissues -
Disease features macrocephaly, intellectual disability, speech delay, low sociability,behavioral problems; more variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, seizures
Remarks -
Date created 2017-03-21 17:03:44 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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     
00435242 260488 - - M ? ? (unknown) - - - - - LLS Autism, Absent speech, Multiple cafe-au-lait spots, Spotty hypopigmentation, Vitiligo, Caries SETD2 SETD2 1 1 Andreas Laner
00436146 266625 - - M no Germany - - - - - LLS Intellectual disability, EEG abnormality, Delayed speech and language development, Neurodevelopmental delay SETD2 SETD2 1 1 Andreas Laner
00441136 R_4600 - - F ? Poland - - - - - LLS - - SETD2 1 1 Rafał Płoski
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.