Epidermolysis bullosa (EB)

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

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM. Split-hand/foot malformation 4 OMIM ADULT

Crouzon syndrome with acanthosis nigricans OMIM FREM1 23399 NM_144966.5 100% Trigonocephaly 2 OMIM. GLI3 4319 NM_000168.5 100% Greig cephalopolysyndactyly