Disease #00196 (CGL2 (lipodystrophy, congenital generalized, type 2 (CGL-2)), OMIM:269700)

Official abbreviation CGL2
Name lipodystrophy, congenital generalized, type 2 (CGL-2)
OMIM ID 269700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 97
Phenotype entries for this disease 97
Associated with 1 gene BSCL2
Associated tissues -
Disease features -
Remarks -


Individuals

97 entries on 1 page. Showing entries 1 - 97.
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     
00002709 - PubMed: Magre 2001 8generation family, 20 affecteds - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 20 María-Jesús Sobrido
00002711 - PubMed: Magre 2001 6generation family, 4 affecteds - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 4 María-Jesús Sobrido
00002713 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002715 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002717 - PubMed: Magre 2001 4generation family, 1 affected - yes Lebanon - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002719 - PubMed: Magre 2001 5generation family, 2 affecteds - yes Norway - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002721 - PubMed: Magre 2001 5generation family, 1 affected M no Norway - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002723 - PubMed: Magre 2001 5generation family, 2 affecteds - no Norway - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002725 - PubMed: Magre 2001 6generation family, 1 affected M yes Norway - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002727 - PubMed: Magre 2001 3generation family, 1 affected M no Norway - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002729 - PubMed: Magre 2001 6generation family, 1 affected M yes Italy - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002731 - PubMed: Magre 2001 2generation family, 2 affecteds - no United Kingdom (Great Britain) - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002733 - PubMed: Magre 2001 5generation family, 1 affected F yes India - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002734 - PubMed: Magre 2001 5generation family, unaffected carrier parent F yes India - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002735 - PubMed: Magre 2001 4generation family, 1 affected M yes Turkey - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002737 - PubMed: Magre 2001 5generation family, 1 affected F yes Brazil - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002739 - PubMed: Magre 2001 4generation family, affected twins - yes France Portugeuse - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002741 - PubMed: Magre 2001 4generation family, 2 affecteds - yes France Portugeuse - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002743 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Portugal - - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002744 - PubMed: Magre 2001 4generation family, 1 affected F yes South Africa Portugeuse - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002746 - PubMed: Magre 2001 2generation family, 1 affected F no South Africa Portugeuse - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002748 - PubMed: Magre 2001 - - no France - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002749 - PubMed: Magre 2001 - - yes France Turkish - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002750 - PubMed: Magre 2001 - - yes Portugal - - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL) BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002751 - PubMed: Agarwal 2003 4generation family, affected sister F yes Pakistan Pakistani - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002752 - PubMed: Agarwal 2003 4generation family, affected sister F yes Pakistan Pakistani - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002754 - PubMed: Agarwal 2003 2generation family, affected brother M yes Turkey Turkish - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002756 - PubMed: Agarwal 2003 2generation family, affected brother M yes Turkey Turkish - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002757 - PubMed: Agarwal 2003 2generation family, 1 affected F no United States Chinese - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002759 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States white; native Indian - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002761 - PubMed: Agarwal 2003 2generation family, affected brother M no United States Chinese - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR; cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002762 - PubMed: Agarwal 2003 2generation family, affected sister F no United States Chinese - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002764 - PubMed: Agarwal 2003 2generation family, affected sister F no United Kingdom (Great Britain) white - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002765 - PubMed: Agarwal 2003 2generation family, affected brother M no United Kingdom (Great Britain) white - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002767 - PubMed: Agarwal 2003 3generation family, 1 affected F no Portugal white - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002768 - PubMed: Agarwal 2003 2generation family, 1 affected M yes United States Lebanese - - - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002769 - PubMed: Agarwal 2003 4generation family, 3 affected M yes United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002770 - PubMed: Agarwal 2003 4generation family, 3 affected F yes United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002771 - PubMed: Agarwal 2003 4generation family, 3 affected M yes United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002772 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; no cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002773 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States Lebanese - 0 - - CGL2 BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; cardiomyopathy BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002790 - PubMed: Ebihara 2004 4generation family, 1 affected M yes Japan - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002792 - PubMed: Ebihara 2004 4generation family, 1 affected F yes Japan - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002794 - PubMed: Ebihara 2004 5generation family, 1 affected F yes Japan - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002798 - PubMed: Mandal 2006 affected twin pair ? no India - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital BSCL2 BSCL2 1 2 María-Jesús Sobrido
00002799 - PubMed: Mandal 2006 1 affected M yes India - - 0 - - CGL2 BerardinelliSeip lipodystrophy, congenital BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002815 - - 2generation family, 1 affected M yes China - - 0 - - CGL2 lipodystrophy, congenital generalized; early-onset diabetes mellitus BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002817 - - 1 affected F no India - - 0 - - CGL2 lipodystrophy, congenital generalized; normal intellectual development; 13y-diabetes mellitus BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002818 - - 2generation family, 1 affected F yes Brazil - - 0 - - CGL2 BerardinelliSeip syndrome BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002820 - - 2generation family, 1 affected M yes Brazil - - 0 - - CGL2 BerardinelliSeip syndrome BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002822 - - 2generation family, 2 affecteds - yes Brazil - - - - - CGL2 BerardinelliSeip syndrome BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002824 - - 3generation family, 2 affecteds (grandfather/child) - yes Brazil - - 0 - - CGL2 BerardinelliSeip syndrome BSCL2 BSCL2 2 2 María-Jesús Sobrido
00002826 - - 2generation family, 1 affected M yes Brazil - - 0 - - CGL2 BerardinelliSeip syndrome BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002828 - - 2generation family, 1 affected F no Brazil - - 0 - - CGL2 BerardinelliSeip syndrome BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002831 - - 1 affected M yes Japan - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002854 - - - - - - - - - - - CGL2 - - - 0 1 María-Jesús Sobrido
00002857 - PubMed: Bhayana et al., Clin. Genet. 2002 2 generation family , 1 affected F no Portugal white - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002868 - PubMed: Ebihara 2004 4 generation family, 1 affected - yes Japan - - - - - CGL2 - - - 0 1 María-Jesús Sobrido
00002869 - PubMed: Friguls et al., Eur. J. Med. Genet. 2009 2 generation family, 1 affected M no China - - 0 - - CGL2 - BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002870 - PubMed: Gomes 2004 2 generation family M no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002871 - PubMed: Gomes 2004 2 generation family, 3 affected M no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002872 - PubMed: Gomes 2004 2 generation family, 3 affected F no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002873 - PubMed: Gomes 2004 2 generation family, 3 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002874 - PubMed: Gomes 2004 4 generation family, 2 affected M no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002875 - PubMed: Gomes 2004 4 generation family, 2 affected M no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002876 - PubMed: Gomes 2004 4 generation family, 3 affected M yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002877 - PubMed: Gomes 2004 4 generation family, 3 affected M yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002878 - PubMed: Gomes 2004 4 generation family, 3 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002879 - PubMed: Gomes 2004 2 generation family, 1 affected M no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002880 - PubMed: Gomes 2004 2 generation family, 1 affected F no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002881 - PubMed: Gomes 2004 2 generation family, 1 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002882 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002883 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002884 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002885 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002886 - PubMed: Gomes 2004 2 generation family, 1 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002887 - PubMed: Gomes 2004 2 generation family, 1 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002888 - PubMed: Gomes 2004 2 generation family, 1 affected F no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002889 - PubMed: Gomes 2004 2 generation family, 1 affected F yes Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002890 - PubMed: Gomes 2004 2 generation family, 1 affected M no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002891 - PubMed: Gomes 2004 2 generation family, 1 affected M no Brazil - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002892 - PubMed: Huang et al., Kaohsiung J. Med. Sci. 2010 2 generation family, 1 affected M no Taiwan - - 0 - - CGL2 - BSCL2 BSCL2 2 1 María-Jesús Sobrido
00002893 - PubMed: Boutet et al., Biochimie 2009 1 affected M ? Norway - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002894 - PubMed: Boutet et al., Biochimie 2009 2 affected - ? Portugal - - - - - CGL2 - BSCL2 BSCL2, HNRNPUL2-BSCL2 1 2 María-Jesús Sobrido
00002895 - PubMed: Boutet et al., Biochimie 2009 8 affected - ? Lebanon - - - - - CGL2 - BSCL2 BSCL2 1 8 María-Jesús Sobrido
00002896 - PubMed: Boutet et al., Biochimie 2009 1 affected - ? Turkey - - - - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002897 - PubMed: Magre et al., Nat. Genet. 2001 4 generation family, 2 affected - yes France - - - - - CGL2 - - - 0 2 María-Jesús Sobrido
00002900 - PubMed: Nishiyama et al., Pediatr. Int. 2009 1 affected M yes Japan - - 0 - - CGL2 - BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002902 - PubMed: Raygada et al., Clin. Genet. 2005 2 affected - yes Lebanon - - - - - CGL2 - BSCL2 BSCL2 1 2 María-Jesús Sobrido
00002905 - PubMed: Wu et al., J. Neurol. Neurosurg. Psychiatry 2009 1 affected M no Taiwan - - 0 - - CGL2 dystonia BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002906 - PubMed: Wu et al., J. Neurol. Neurosurg. Psychiatry 2009 1 affected M ? Taiwan - - 0 - - CGL2 dystonia BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002909 - PubMed: GuillenNavarro 2013 5generation family, 1 affected F no Spain - 8y - - - CGL2 BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); neurodegeneration; 19m-walk; 21m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, spasticity, ataxic gait, sleep disturbances, no acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy; first months of life lipodystrophy, muscular hypertrophy, hyper-triglyceridemia, hepatomegaly; 3y-neurological involution; 4y-seizures; 8y-died of aspirative pneumonia BSCL2 BSCL2 2 1 Johan den Dunnen
00002911 - PubMed: GuillenNavarro 2013 3generation family, 1 affected M no Spain - 8y - - - CGL2 BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); neurodegeneration; 12m-walk; 18m-psychomotor delay; max. language acquisition simple sentences, hyperactive/irritable, spasticity, ataxic gait, no sleep disturbances, lipodystrophy, muscular hypertrophy, acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-seizures; 4y-neurological involution; 8y-died of respiratory failure in status epileptics BSCL2 BSCL2 2 1 Johan den Dunnen
00002914 - PubMed: GuillenNavarro 2013 4generation family, 1 affected F yes Spain - - - - - CGL2 BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); 16m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, no spasticity, ataxic gait, sleep disturbances, no lipodystrophy, no muscular hypertrophy, no acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy, unknown hyper-triglyceridemia, no hepatomegaly; 19m-walk; 4y-seizures, neurological involution; 6y-deceased BSCL2 BSCL2, HNRNPUL2-BSCL2 2 1 Johan den Dunnen
00002971 - PubMed: Guillen-Navarro 2013 4-generation family, affected male patient 3 M no Spain - 7y - - - CGL2 walk 13m; 24m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, spasticity, ataxic gait, sleep disturbances, lipodystrophy, muscular hypertrophy, no acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, no hyper-triglyceridemia, no hepatomegaly; 2.5y-seizures; 4y-neurological involution; 7y-died of respiratory infection; lipodystrophy (HP:0009125) BSCL2 BSCL2 2 1 Johan den Dunnen
00002972 - PubMed: Guillen-Navarro 2013 4-generation family, affected male patient 4 M no Spain - 7y - - - CGL2 7m-psychomotor delay; walk 15m; max. language acquisition few words, hyperactive/irritable, no spasticity, ataxic gait, no sleep disturbances, lipodystrophy, no muscular hypertrophy, acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-seizures; 4y-neurological involution; 7y-died of respiratory infection; lipodystrophy (HP:0009125) BSCL2 BSCL2 2 1 Johan den Dunnen
00002973 - PubMed: Guillen-Navarro 2013 4-generation family, affected female patient 5 F no Spain - >4y - - - CGL2 walk 16m; 18m-psychomotor delay; max. language acquisition simple sentences, hyperactive/irritable, no spasticity, no ataxic gait, no sleep disturbances, lipodystrophy, no muscular hypertrophy, acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-no seizures, no neurological involution; lipodystrophy (HP:0009125) BSCL2 BSCL2, HNRNPUL2-BSCL2 2 1 Johan den Dunnen
Legend   How to query