Kraniofaciale malformasjoner

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

ELOVL4 14415 NM_022726.3 1-6 Very long-chain fatty acid elongase 4 deficiency, neurologic phenotype OMIM Pseudo-Sjogren-Larsson syndrome (recessive); spinocerebellar ataxia type

ELOVL4 14415 NM_022726.3 1-6 Very long-chain fatty acid elongase 4 deficiency, neurologic phenotype OMIM Pseudo-Sjogren-Larsson syndrome (recessive); spinocerebellar ataxia type

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

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

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