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Aarskog-Scott syndrome
FGD1
Aarskog-Scott syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lipodystrophy (2 genes)
AGPAT2
,
BSCL2
Lipodystrophy (2 genes) - IPG
Congenital generalized lipodystrophy
,
Severe neurodegenerative syndrome with lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 1
AGPAT2
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Ectopia lentis
LTBP2
,
ADAMTSL4
,
FBN1
Isolated ectopia lentis
Centrum Medische Genetica - UZ Gent
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type
LTBP2
Weill-Marchesani syndrome
,
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Centrum Medische Genetica - UZ Gent
Thrombophilia due to protein C deficiency (PROC gene)
PROC
Severe hereditary thrombophilia due to congenital protein C deficiency
Centrum Medische Genetica - UZ Brussel VUB
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