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Costello Syndrome- Schimmelpenning syndrome
HRAS
Costello syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
Carnitine Palmitoyltransferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, myopathic form
,
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
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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