Ektodermal dysplasi og hypodonti

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

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

We observed that smoking exposures, as defined with measured cotinine levels during mid-pregnancy, were associ- ated with increased risks of cleft lip with or without cleft palate

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