Disease #01764

Official abbreviation -
Name Ectopia lentis, isolated autosomal recessive
OMIM ID 225100
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 16
Phenotype entries for this disease 12
Associated with 1 gene ADAMTSL4
Associated tissues -
Disease features -
Remarks -


Individuals

16 entries on 1 page. Showing entries 1 - 16.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00088068 - - - M no Germany - - 0 - - Ectopia lentis, isolated autosomal recessive Suspected marfan syndrome,ectopia lentis, parents show no symptoms, ADAMTSL4 ADAMTSL4 1 2 Andreas Laner
00088069 - - 4 families, 5 Patients / father and mother heterozygous carriers M ? Germany - - 0 - - Ectopia lentis, isolated autosomal recessive Ectopia lentis ADAMTSL4 ADAMTSL4 1 4 Andreas Laner
00088070 - - 4 families, 5 Patients / parents are heterozygous carriers of mutation F ? Germany - - 0 - - Ectopia lentis, isolated autosomal recessive Ectopia lentis ADAMTSL4 ADAMTSL4 1 4 Andreas Laner
00088071 - - 4 families, 5 Patients / no other signs of marfan-syndrome F ? Germany - - 0 - - Ectopia lentis, isolated autosomal recessive Ectopia lentis at age 3y ADAMTSL4 ADAMTSL4 1 5 Andreas Laner
00088072 - - Two sisters and two nephews diagnosed with Ectopia lentis, the family is consanguine M yes Turkey - - 0 - - Ectopia lentis, isolated autosomal recessive Ectopia lentis congenita ADAMTSL4 ADAMTSL4 5 1 Andreas Laner
00088073 - - 1 family, 2 affected children (brother also affected) F ? Turkey - - 0 - - Ectopia lentis, isolated autosomal recessive Ectopia lentis on both eyes ADAMTSL4 ADAMTSL4 5 1 Andreas Laner
00088074 - - 1 family, 1 affected child M ? ? (unknown) - - 0 - - Ectopia lentis, isolated autosomal recessive Bilateral dislocated lenses ADAMTSL4 ADAMTSL4 2 1 Andreas Laner
00088075 - - 1 family, 1 affected child M no Germany - - 0 - - Ectopia lentis, isolated autosomal recessive Ectopia lentis bilateral ADAMTSL4 ADAMTSL4 3 1 Andreas Laner
00088076 - - - M ? Germany - - 0 - - Ectopia lentis, isolated autosomal recessive Ectopia lentis- / craniosynostisis syndrome ADAMTSL4 ADAMTSL4 5 1 Andreas Laner
00088077 - - Consanguine parents - yes Turkey - - 0 - - Ectopia lentis, isolated autosomal recessive Ectopia lentis ADAMTSL4 ADAMTSL4 5 1 Andreas Laner
00088078 - - - F ? Germany - - 0 - - Ectopia lentis, isolated autosomal recessive Ectopia lentis left side, macrosomia but no marfanoid habitus ADAMTSL4 ADAMTSL4 5 1 Andreas Laner
00088084 - - - F ? Germany german - 0 - - Ectopia lentis, isolated autosomal recessive ectopia lentis, cerebral aneurysm ADAMTSL4 ADAMTSL4 2 1 Andreas Laner
00104714 P1 - - M no Netherlands - - 0 - - Ectopia lentis, isolated autosomal recessive - ADAMTSL4 ADAMTSL4 1 1 Alessandra Maugeri
00104717 P4 - - M no Netherlands - - 0 - - Ectopia lentis, isolated autosomal recessive - ADAMTSL4 ADAMTSL4 1 1 Alessandra Maugeri
00104720 P7 - - M no Netherlands - - 0 - - Ectopia lentis, isolated autosomal recessive - ADAMTSL4 ADAMTSL4 1 1 Alessandra Maugeri
00104721 P8 - - M yes Turkey - - 0 - - Ectopia lentis, isolated autosomal recessive - ADAMTSL4 ADAMTSL4 1 1 Alessandra Maugeri
Legend