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Congenital contractural arachnodactyly (Arthrogryposis Distal Type 9 / Beals-Hecht syndrome)
FBN2
Congenital contractural arachnodactyly
Centrum Medische Genetica - UZ Gent
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
Albright hereditary osteodystrophy
GNAS
Pseudopseudohypoparathyroidism
,
Pseudohypoparathyroidism type 1A
,
Pseudohypoparathyroidism type 1C
Centre de Génétique Humaine - Erasme ULB
Mental retardation, X-linked, syndromic, Borck type
EIF2S3
MEHMO syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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