Genpanel for arvelige nevropatier

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

Combined cellular and humoral immune defects with granulomas OMIM. Omenn

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

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

Leukemia, acute myeloid OMIM Noonan syndrome 3 OMIM RAS-associated autoimmune leukoproliferative disorder OMIM Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic OMIM..