Kraniofaciale malformasjoner

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

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,

Combined cellular and humoral immune defects with granulomas OMIM. Omenn

POLG 9179 NM_002693.2 2-23 Mitochondrial DNA depletion syndrome 4A (Alpers type) OMIM Mitochondrial DNA depletion syndrome 4B (MNGIE type) OMIM Mitochondrial recessive

Pfeiffer syndrome OMIM Jackson-Weiss syndrome OMIM FGFR2 NM_000141.4 100% Crouzon syndrome OMIM. Saethre-Chotzen

Dermatopathia pigmentosa reticularis OMIM Naegeli-Franceschetti-Jadassohn syndrome OMIM KRT5 6442 NM_000424.3 100% Epidermolysis bullosa simplex, Dowling-Meara