Migrasjonsforstyrrelser og pontocerebellær hypoplasi

Melnick-Needles syndrome OMIM Congenital short bowel syndrome OMIM Intestinal pseudoobstruction, neuronal OMIM Heterotopia, periventricular OMIM. Otopalatodigital syndrome, type

COL9A2 2218 NM_001852.4 1-32 ?Stickler syndrome, type V OMIM Epiphyseal dysplasia, multiple, 2 OMIM COL9A3 2219 NM_001853.3 1-32 Epiphyseal dysplasia, multiple, 3, with. or

FHL1 3702 NM_001449.4 99% Hemophagocytic lymphohistiocytosis, familial, 1 OMIM Emery-Dreifuss muscular dystrophy 6, X-linked OMIM Myopathy, X-linked, with postural muscle atrophy

FHL1 3702 NM_001449.4 99% Hemophagocytic lymphohistiocytosis, familial, 1 OMIM Emery-Dreifuss muscular dystrophy 6, X-linked OMIM Myopathy, X-linked, with postural muscle atrophy

FHL1 3702 NM_001449.4 99% Hemophagocytic lymphohistiocytosis, familial, 1 OMIM Emery-Dreifuss muscular dystrophy 6, X-linked OMIM Myopathy, X-linked, with postural muscle atrophy

FTL NM_000146.3 100% L-ferritin deficiency, dominant and recessive OMIM Neurodegeneration with brain iron accumulation 3 OMIM FTO NM_001080432.2 95% Growth retardation,

FKTN NM_001079802.1 100% Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 OMIM. Muscular dystrophy-dystroglycanopathy (congenital with brain

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