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Myoadenylate deaminase deficiency (AMPD1 gene hot spot mutation - p.Gln12*)
AMPD1
Adenosine monophosphate deaminase deficiency
Centrum Medische Genetica - UZ Brussel VUB
Cholelithiasis, Low Phospholipid associated (LPAC syndrome)
ABCB4
Low phospholipid-associated cholelithiasis
Centre de Génétique Médicale UCL
Synpolydactyly / Brachydactyly
HOXD13
Brachydactyly-syndactyly, Zhao type
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Macular dystrophy
PRPH2
Butterfly-shaped pigment dystrophy
Centrum Medische Genetica - UZ Gent
Microphthalmia, syndromic 5; Retinal dystrophy, early-onset, and pituitary dysfunction
OTX2
Syndromic microphthalmia type 5
,
Combined pituitary hormone deficiencies, genetic forms
,
Butterfly-shaped pigment dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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